Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

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Reema Sharma Dhar

2014-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

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Dhar, Reema Sharma; Bora, Amitava

2014-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

Ectoderm-targeted overexpression of the glucocorticoid receptor induces hypohidrotic ectodermal dysplasia.

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Cascallana, Jose Luis; Bravo, Ana; Donet, Eva; Leis, Hugo; Lara, Maria Fernanda; Paramio, Jesús M; Jorcano, José L; Pérez, Paloma

2005-06-01

Hypohidrotic ectodermal dysplasia is a human syndrome defined by maldevelopment of one or more ectodermal-derived tissues, including the epidermis and cutaneous appendices, teeth, and exocrine glands. The molecular bases of this pathology converge in a dysfunction of the transcription factor nuclear factor of the kappa-enhancer in B cells (NF-kappaB), which is essential to epithelial homeostasis and development. A number of mouse models bearing disruptions in NF-kappaB signaling have been reported to manifest defects in ectodermal derivatives. In ectoderm-targeted transgenic mice overexpressing the glucocorticoid receptor (GR) [keratin 5 (K5)-GR mice], the NF-kappaB activity is greatly decreased due to functional antagonism between GR and NF-kappaB. Here, we report that K5-GR mice exhibit multiple epithelial defects in hair follicle, tooth, and palate development. Additionally, these mice lack Meibomian glands and display underdeveloped sweat and preputial glands. These phenotypic features appear to be mediated specifically by ligand-activated GR because the synthetic analog dexamethasone induced similar defects in epithelial morphogenesis, including odontogenesis, in wild-type mice. We have focused on tooth development in K5-GR mice and found that an inhibitor of steroid synthesis partially reversed the abnormal phenotype. Immunostaining revealed reduced expression of the inhibitor of kappaB kinase subunits, IKKalpha and IKKgamma, and diminished p65 protein levels in K5-GR embryonic tooth, resulting in a significantly reduced kappaB-binding activity. Remarkably, altered NF-kappaB activity elicited by GR overexpression correlated with a dramatic decrease in the protein levels of DeltaNp63 in tooth epithelia without affecting Akt, BMP4, or Foxo3a. Given that many of the 170 clinically distinct ectodermal dysplasia syndromes still remain without cognate genes, deciphering the molecular mechanisms of this mouse model with epithelial NF-kappaB and p63 dysfunction may

Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

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Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

2014-04-01

This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

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Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Remember the periroot sheet in orthodontic treatment of ectodermal dysplasia patients

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Izabella Vest Hansen

2014-01-01

Full Text Available Introduction: Root resorption has various etiologies. Recent studies have demonstrated a periroot sheet covering the root. The outermost layer of this sheet is the Malassez′ epithelial layer. Tooth malformations are seen in ectodermal dysplasia and it is believed that the ectodermal layer in the periroot sheet differs in cases of ectodermal dysplasia. Case reports: Three cases of unexpected severe root resorption are demonstrated. Two cases were diagnosed with ectodermal dysplasia and the third appeared with thin, curly hair and absence of eyebrows but no ectodermal diagnosis. In the ectodermal cases, there were severe orthodontically provoked resorptions on the teeth that appeared to be permanent but were possibly primary. In the third case, there was heavy resorption on permanent teeth due to orthodontic treatment. Discussion: The orthodontist should be aware that aggressive resorption can occur in cases not diagnosed with ectodermal dysplasia but with signs of ectodermal deviations, and that tooth morphology, hair, and skin are important to observe before proceeding with treatment.

Death due to complications of anhidrotic ectodermal dysplasia.

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Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

2014-11-01

Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.

Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

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Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

2014-11-01

This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

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Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

2015-01-01

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

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Shamseldin, Hanan E.

2016-11-12

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. The recapitulation of the phenotype we observe in this family by the Kdf1−/− mouse suggests a causal role played by the KDF1 variant.

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

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Shamseldin, Hanan E; Khalifa, Ola; Binamer, Yousef M; Almutawa, Abdulmonem; Arold, Stefan T; Zaidan, Hamad; Alkuraya, Fowzan S

2017-01-01

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans. We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. The recapitulation of the phenotype we observe in this family by the Kdf1-/- mouse suggests a causal role played by the KDF1 variant.

Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

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Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

2013-05-01

Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.

Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

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Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

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Mohita Marwaha

2012-01-01

Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

Prosthodontic management of anhidrotic ectodermal dysplasia

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Shilpy Gupta

2011-01-01

Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

The role of partial denture in management of hypohidrotic ectodermal dysplasia

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Tania Saskianti

2008-06-01

Full Text Available Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestation can be defects in ectodermal structures. The case of a 11-year-old child with hypohidrotic ectodermal dysplasia and partial anodontia is presented. Affected children require extensive dental treatment to restore appearance and help the development of a positive self image. Partial denture was provided to encourage a normal psychological development and to improve the function of the stomatognatic system. It is important for the patient and the dentist to understand that continued monitoring for dental problems is necessary. This paper had an objective to relate and discuss a case of hypohidrotic ectodermal dysplasia, with the approach of the influence of an esthetic rehabilitation and functional alternative in the improvement of the quality of life.

Ectodermal dysplasia in identical twins

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Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

2013-01-01

Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facia...

Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

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Somayeh Hekmatfar

2012-06-01

Full Text Available Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most common oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This report presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic.

Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

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Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

2017-06-01

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

p63 in skin development and ectodermal dysplasias

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Koster, Maranke I.

2010-01-01

The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

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Akhyani Maryam

2007-01-01

Full Text Available The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

FOXI2: a possible gene contributing to ectodermal dysplasia.

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Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

2017-12-01

Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report

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Emilija Bajraktarova Valjakova

2015-09-01

Full Text Available Introduction: Ectodermal dysplasia (ED is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin. Hypodontia or anodontia of the primary and permanent dentition, poorly developed alveolar ridges and improper maxillo – mandibular relations, are the most common oral manifestations. Management of patients with ectodermal dysplasia requires a multidisciplinary team approach. Case presentation: A 6.5 year-old boy with hypohidrotic ectodermal dysplasia (HED presented in this article, had typical features of HED: hypohidrosis, hypotrichosis, severe hypodontia, atrophic alveolar ridges, old-looking facial expression. According to the patient’s age and clinical findings, removable complete over-denture prosthesis in both arches was the treatment of choice. Conclusion: In patients with ED, it is important to establish correct maxillo – mandibular relations and normal function of the dento-facial system (chewing, swallowing, and speaking. Prosthodontic treatment has a major impact on aesthetics and functions,facilitates psychological development and improves emotional condition and social life of the patient.

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

KAUST Repository

Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

2016-01-01

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia

Keratoprosthesis in Ectodermal Dysplasia.

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Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

2016-07-01

To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

Ectodermal dysplasia in identical twins

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Gurkar Haraswarupa Puttaraju

2013-01-01

Full Text Available Hereditary hypohidrotic ectodermal dysplasia (HED is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease.

Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

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M. Klinger

2009-01-01

Full Text Available Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology.

Andhidrotic ectodermal dysplasia-autosomal recessive form

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Inamadar Arun

1994-01-01

Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

Hereditary ectodermal dysplasia: Report of 11 patients from a family

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Seema Vaidya

2013-01-01

Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

Ectodermal Dysplasia with Anodontia: A Report of Two Cases

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Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

2010-01-01

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

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Halai, Tina; Stevens, Claire

2015-10-01

The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients.

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

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Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

2014-09-01

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report.

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Pae, Ahran; Kim, Kyu; Kim, Hyeong-Seob; Kwon, Kung-Rock

2011-03-01

Ectodermal dysplasia is a hereditary disorder of ectodermal origin. A 12-year-old boy was referred for management of the oral manifestations of his ectodermal dysplasia. An overdenture retained by natural teeth for the maxilla and a double-crown-retained denture for the mandible were made. Double-crown-retained dentures may be modified into complete dentures if the abutment teeth are lost. The patient was instructed to maintain oral hygiene and return periodically for follow-up visits. This report describes a potential routine approach to restoring the appearance, function, and psyche of a growing boy with ectodermal dysplasia.

Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

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Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W; Schneider, Holm

2017-04-01

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty

Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

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Sangita Ghosh

2014-01-01

Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

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Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco

2015-12-01

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

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Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Ceramide profile in hypohidrotic ectodermal dysplasia

DEFF Research Database (Denmark)

Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

2012-01-01

Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...

Anhidrotic Ectodermal Dysplasia with Palmo-plantar Keratoderma

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Kamlesh Kumar

1982-01-01

Full Text Available A patient with anhidrotic ectodermal dysplasia and palmo-plantar keratoderma is presented. Palmo-planta keratoderma is an unusual association with this disease. Atopic dermatitis was another associated condition in this patient.

Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia.

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Mello, Bianca Zeponi Fernandes; Silva, Thiago Cruvinel; Rios, Daniela; Machado, Maria Aparecida Andrade Moreira; Valarelli, Fabrício Pinelli; Oliveira, Thais Marchini

2015-01-01

Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.

Conventional Complete Denture in Patients with Ectodermal Dysplasia

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Larissa Soares Reis Vilanova

2015-01-01

Full Text Available Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

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P K Shivaprakash

2012-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

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Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

2011-02-01

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

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Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

2013-03-01

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

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Kowalczyk-Quintas, Christine; Willen, Laure; Dang, Anh Thu; Sarrasin, Heidi; Tardivel, Aubry; Hermes, Katharina; Schneider, Holm; Gaide, Olivier; Donzé, Olivier; Kirby, Neil; Headon, Denis J; Schneider, Pascal

2014-02-14

Development of ectodermal appendages, such as hair, teeth, sweat glands, sebaceous glands, and mammary glands, requires the action of the TNF family ligand ectodysplasin A (EDA). Mutations of the X-linked EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle. We have generated blocking antibodies, raised in Eda-deficient mice, against the conserved, receptor-binding domain of EDA. These antibodies recognize epitopes overlapping the receptor-binding site and prevent EDA from binding and activating EDAR at close to stoichiometric ratios in in vitro binding and activity assays. The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. Moreover, administration of EDA blocking antibodies to pregnant wild type mice induced in developing wild type fetuses a marked and permanent ectodermal dysplasia. These function-blocking anti-EDA antibodies with wide cross-species reactivity will enable study of the developmental and postdevelopmental roles of EDA in a variety of organisms and open the route to therapeutic intervention in conditions in which EDA may be implicated.

Generation and Characterization of Function-blocking Anti-ectodysplasin A (EDA) Monoclonal Antibodies That Induce Ectodermal Dysplasia*

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Kowalczyk-Quintas, Christine; Willen, Laure; Dang, Anh Thu; Sarrasin, Heidi; Tardivel, Aubry; Hermes, Katharina; Schneider, Holm; Gaide, Olivier; Donzé, Olivier; Kirby, Neil; Headon, Denis J.; Schneider, Pascal

2014-01-01

Development of ectodermal appendages, such as hair, teeth, sweat glands, sebaceous glands, and mammary glands, requires the action of the TNF family ligand ectodysplasin A (EDA). Mutations of the X-linked EDA gene cause reduction or absence of many ectodermal appendages and have been identified as a cause of ectodermal dysplasia in humans, mice, dogs, and cattle. We have generated blocking antibodies, raised in Eda-deficient mice, against the conserved, receptor-binding domain of EDA. These antibodies recognize epitopes overlapping the receptor-binding site and prevent EDA from binding and activating EDAR at close to stoichiometric ratios in in vitro binding and activity assays. The antibodies block EDA1 and EDA2 of both mammalian and avian origin and, in vivo, suppress the ability of recombinant Fc-EDA1 to rescue ectodermal dysplasia in Eda-deficient Tabby mice. Moreover, administration of EDA blocking antibodies to pregnant wild type mice induced in developing wild type fetuses a marked and permanent ectodermal dysplasia. These function-blocking anti-EDA antibodies with wide cross-species reactivity will enable study of the developmental and postdevelopmental roles of EDA in a variety of organisms and open the route to therapeutic intervention in conditions in which EDA may be implicated. PMID:24391090

Ophthalmic manifestations in patients with ectodermal dysplasia syndromes.

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Keklikci, Ugur; Yavuz, Izzet; Tunik, Selcuk; Ulku, Zelal Baskan; Akdeniz, Sedat

2014-01-01

Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances.

Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

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Elif Oral Ahiskalioglu

2015-11-01

Full Text Available Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

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Elif Oral Ahiskalioglu

2015-12-01

Full Text Available ABSTRACT Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.

Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

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Joseph, Suja; Cherackal, George J; Jacob, Jose; Varghese, Alex K

2015-01-01

Key Clinical Message Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist. PMID:25984305

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.

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Issa, Yasmin A; Kamal, Lara; Rayyan, Amal Abu; Dweik, Dima; Pierce, Sarah; Lee, Ming K; King, Mary-Claire; Walsh, Tom; Kanaan, Moien

2016-10-01

Tooth development is controlled by the same processes that regulate formation of other ectodermal structures. Mutations in the genes underlying these processes may cause ectodermal dysplasia, including severe absence of primary or permanent teeth. Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing followed by genotyping of 56 informative relatives in the 4 families suggests that the phenotype is due to homozygosity for KREMEN1 p.F209S (c.626 T>C) on chromosome 22 at g.29,521,399 (hg19). The variant occurs in the highly conserved extracellular WSC domain of KREMEN1, which is known to be a high affinity receptor of Dickkopf-1, a component of the Dickkopf-Kremen-LRP6 complex, and a potent regulator of Wnt signaling. The Wnt signaling pathway is critical to development of ectodermal structures. Mutations in WNT10A, LRP6, EDA, and other genes in this pathway lead to tooth agenesis with or without other ectodermal anomalies. Our results implicate KREMEN1 for the first time in a human disorder and provide additional details on the role of the Wnt signaling in ectodermal and dental development.

Hypohidrotic ectodermal dysplasia with anodontia: A rare case-rehabilitation by prosthetic management

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M Naveen Kumar

2012-01-01

Full Text Available Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat. This case of 12-year-old boy with hypohidrotic ectodermal dysplasia and complete anodontia of both primary and permanent dentition is presented. Owing to the need for treatment at an early age for anodontia and due to the ill-formed maxillary and mandibular residual ridges, the prosthetic management can be difficult. Complete dentures with soft liners and hollow maxillary denture were provided to encourage normal psychological development and to improve the function of the stomatognathic system.

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?

NARCIS (Netherlands)

Zankl, A.; Scheffer, H.; Schinzel, A.

2004-01-01

The ectodermal dysplasias (ED) are a large and complex group of diseases characterized by anomalies of the ectoderm and its derivates, often associated with malformations in other organs. We report a patient with an ectodermal dysplasia affecting hair, teeth, and nails and malformations of all four

Molecular basis of hypohidrotic ectodermal dysplasia: an update.

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Trzeciak, Wieslaw H; Koczorowski, Ryszard

2016-02-01

Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

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Metwalley Kalil Kotb

2012-01-01

Full Text Available Abstract Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900 is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate. Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome. Case presentation An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth; the pregnancy and perinatal history were uneventful. On examination, her growth parameters were below the third centile, she had bilateral ectrodactyly of both hands and feet, dry rough skin, sparse hair of the scalp and operated right cleft lip and cleft palate. Computerized tomography of her brain revealed holoprosencephaly. Conclusion The importance of the early diagnosis of this syndrome should be emphasized in order to implement a multidisciplinary approach for proper management of such cases.

Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery.

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Ahiskalioglu, Elif Oral; Ahiskalioglu, Ali; Firinci, Binali; Dostbil, Aysenur; Aksoy, Mehmet

2015-01-01

Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives. Copyright © 2013 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

Penatalaksanaan Oligodontia pada Anak 14 Tahun dengan Sindrom Ectodermal Dysplasia: Laporan Kasus

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Anie Apriani

2015-12-01

Full Text Available Ectodermal dysplasia is a hereditary disorder that is rarely seen with approximately 7000 cases in the world. In this disorder, Ectodermal dysplasia occurs as a developmental disorder of organ structures derived from the ectodermal layer such as hair, teeth, nails, and sweat glands. This is a case report of ectodermal dysplasia in a 14-year-old girl with clinical manifestations of oligodontia (tooth loss, more than 6 teeth on the upper and lower jaw, thin and curly hair, abnormal toenail shape, and impaired excretion of sweat. The purpose of the treatment was to make the patient regains her esthetic and masticatory functions, which were disrupted by the absence of permanent tooth buds, as well as to maintain the normal growth of the developing jaws. Treatment for the patient’s with oligodontia included the use of removable denture in lower jaw and application of acrylic crowns on all upper and lower anterior teeth resulting in improved esthetics and masticatory function. It is concluded that the treatment has been able to improve the esthetics and to return the masticatory function of the patient while maintaining the normal growth of the jaws.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

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Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-02-01

Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.

LENUS (Irish Health Repository)

Irvine, Alan D

2012-02-01

The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

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Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

2014-09-01

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.

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Mohammad, Alshami

2015-01-15

Ectodermal dysplasias (EDs) are a group of genodermatoses characterized by malformations of tissues derived from the ectoderm, including the skin, its appendages (hair, nails, sweat glands), teeth, and the breasts. Ectodermal dysplasia syndactyly syndrome (EDSS) is a rare, newly described type of ED involving syndactyly. We report 2 Yemeni siblings with typical EDSS manifestations, including bilateral, partial cutaneous syndactyly of the fingers and toes; sparse, coarse, brittle scalp hair, eyebrows, and eyelashes; and conical, widely spaced teeth with enamel notches. In addition, the siblings presented with other features hitherto not described for this syndrome, such as adermatoglyphia, onychogryphosis, hypoplastic widely spaced nipples, hypoplastic thumbs, and red scalp hair.

Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

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Bildik, Tezan; Ozbaran, Burcu; Kose, Sezen; Koturoglu, Guldane; Gokce, Bulent; Gunaydin, Asli; Altintas, Inci

2012-01-01

Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

Science.gov (United States)

Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-01-01

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.

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Wünsche, S; Jüngert, J; Faschingbauer, F; Mommsen, H; Goecke, T; Schwanitz, K; Stepan, H; Schneider, H

2015-08-01

Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions. © Georg Thieme Verlag KG Stuttgart · New York.

Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.

NARCIS (Netherlands)

Rostagno, P.; Wolchinsky, Z.; Vigano, A.M.; Shivtiel, S.; Zhou, Huiqing; Bokhoven, J.H.L.M. van; Ferone, G.; Missero, C.; Mantovani, R.; Aberdam, D.; Virolle, T.

2010-01-01

Heterozygous mutations in the TP63 transcription factor underlie the molecular basis of several similar autosomal dominant ectodermal dysplasia (ED) syndromes. Here we provide a novel cellular model derived from embryonic stem (ES) cells that recapitulates in vitro the main steps of embryonic skin

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

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Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

2016-03-10

Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

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Schneider, Holm; Faschingbauer, Florian; Schuepbach-Mallepell, Sonia; Körber, Iris; Wohlfart, Sigrun; Dick, Angela; Wahlbuhl, Mandy; Kowalczyk-Quintas, Christine; Vigolo, Michele; Kirby, Neil; Tannert, Corinna; Rompel, Oliver; Rascher, Wolfgang; Beckmann, Matthias W; Schneider, Pascal

2018-04-26

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).

Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

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Rossi, A; Miraglia, E; Fortuna, M C; Calvieri, S; Giustini, S

2017-02-01

Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. We describe three girls with congenital hypotrichosis (9, 5 and 6 years old) caused by ectodermal dysplasia treated with topical cetirizine solution (2 mL. once daily) and oral vitamin D supplementation (1000 IU daily). After 6 months of treatment, the density of hair on the scalp increased in all patients. The vellus hair was replaced by terminal hair. Hair regrowth was evaluated both from the clinical and trichoscopic point of view. We propose a combination of topical cetirizine and oral vitamin D as a rational treatment of choice in congenital hypotrichosis caused by ectodermal dysplasia. © 2016 European Academy of Dermatology and Venereology.

Multidisciplinary approach in the management of ectodermal dysplasia: A case report

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Brahmananda Dutta

2016-01-01

Full Text Available Ectodermal dysplasias are rare hereditary disorders characterized by abnormal development of certain tissues and structures of ectodermal origin. The condition is of importance to dentists as it affects the teeth resulting in hypodontia or anodontia, and a dentist plays an important role in the rehabilitation of the patient. Apart from having difficulties in eating and speaking, young affected individuals can also feel that they look different from their contemporaries resulting in low self-esteem. Well-fitting and functioning prosthesis could be a great help during their schooling years, as it will improve appearance and thus boost their self-confidence. We report a case of hypohidrotic ectodermal dysplasia in a 12-year-old girl who exhibited partial anodontia, and a multidisciplinary approach comprising restorative, orthodontic, surgical, and prosthetic treatment was planned to rehabilitate the girl.The aim of the treatment was to improve psychological development apart from promoting better functioning of the stomatognathic system.

Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.

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Kennedy, David P; Chandler, John W; McCulley, James P

2015-06-01

To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications. Copyright © 2015 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

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van Straten, Cornelia; Butow, Kurt-W

2013-01-01

An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence

Multidisciplinary approach of ectodermal dysplasia with implant retained fixed prosthesis

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Vishnu Priya

2013-01-01

Full Text Available Ectodermal dysplasia represents a group of rare inherited conditions in which two or more ectodermally derived anatomical structures fail to develop. Early dental intervention can improve patient′s appearance, thereby minimizing associated emotional and psychological problems in these patients. Treatment requires a teamwork by medical personnel along with dental professionals of various specialties. Here, a rare case of a young female patient is presented with prosthetic management with implant supported fixed partial denture.

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

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Goyal, Manisha; Pradhan, Gaurav; Gupta, Sunita; Kapoor, Seema

2015-01-01

The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate. PMID:25684924

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

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Manisha Goyal

2015-01-01

Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype.

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Waluk, Dominik P; Zur, Gila; Kaufmann, Ronnie; Welle, Monika M; Jagannathan, Vidhya; Drögemüller, Cord; Müller, Eliane J; Leeb, Tosso; Galichet, Arnaud

2016-09-08

X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked hypotrichosis and multifocal complete alopecia, almost complete absence of sweat and sebaceous glands, and altered dentition with missing and abnormally shaped teeth. Analysis of SNP chip genotypes and whole genome sequence data from the three affected dogs revealed that the affected dogs shared the same haplotype on a large segment of the X-chromosome, including the EDA gene. Unexpectedly, the whole genome sequence data did not reveal any nonsynonymous EDA variant in the affected dogs. We therefore performed an RNA-seq experiment on skin biopsies to search for changes in the transcriptome. This analysis revealed that the EDA transcript in the affected dogs lacked 103 nucleotides encoded by exon 2. We speculate that this exon skipping is caused by a genetic variant located in one of the large introns flanking this exon, which was missed by whole genome sequencing with the illumina short read technology. The altered EDA transcript splicing most likely causes the observed ectodermal dysplasia in the affected dogs. These dogs thus offer an excellent opportunity to gain insights into the complex splicing processes required for expression of the EDA gene, and other genes with large introns. Copyright © 2016 Waluk et al.

Prosthodontic rehabilitation in patient with ectodermal dysplasia combining preprosthetic techniques: a case report.

Science.gov (United States)

Pombo Castro, María; Luaces Rey, Ramón; Arenaz Búa, Jorge; Santana-Mora, Urbano; López-Cedrún Cembranos, José Luís

2013-10-01

Oral manifestations in ectodermal dysplasia include oligodontia, alveolar ridges hypoplasia, and others. Due to the special conditions in terms of unhealthy teeth and lack of bone, implant-supported rehabilitation seems to offer the most satisfactory outcome. A 27-year-old male diagnosed with ectodermal dysplasia was referred to our department for oral rehabilitation. Oral manifestations included oligodontia, maxillary and mandibular atrophy, mandibular alveolar ridge with knife-edge morphology, and conical teeth. Treatment planning consisted of a Le Fort I osteotomy with interpositional grafts, bilateral sinus lift, and placement of maxillary and mandibular inlay and onlay corticocancellous grafts, using autologous iliac crest bone. In the second surgery, all remaining teeth were removed and 11 endosteal implants were placed. Six months after implant placement, a bimaxillary fixed implant-supported prosthesis was delivered, maintaining a satisfactory esthetic and functional result after a 2-year follow-up. The use of combined preprosthetic techniques allows the placement of endosteal implants and a fixed implant-supported prosthesis in patients with oligodontia and ectodermal dysplasia, providing an esthetic and functional oral rehabilitation.

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

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Callea, Michele; Teggi, Roberto; Yavuz, Izzet; Tadini, Gianluca; Priolo, Manuela; Crovella, Sergio; Clarich, Gabriella; Grasso, Domenico Leonardo

2013-11-01

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Evaluation of Ectodermal Dysplasia

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Zelal Baskan

2006-04-01

Full Text Available This case series report outlines possible cranio-maxillofacial deformation consequences associated with ectodermal dysplasia (ED and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5-45 years underwent clinical examination before assessment and treatment. Lateral cephalometric radiography, Steiner's analysis, and respiratory capacity tests were performed. Most of the patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion, and a relative mandible protrusion. Depending on age and orthopedic abnormalities, patients were treated with prosthodontic and orthodontic approaches or implant treatment. Therapists should take a comprehensive and multidisciplinary approach with these patients to improve their dental, masticatory, growth, and orthognathic conditions, as well as esthetic appearance.

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

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Guazzarotti, L; Tadini, G; Mancini, G E; Giglio, S; Willoughby, C E; Callea, M; Sani, I; Nannini, P; Mameli, C; Tenconi, A A; Mauri, S; Bottero, A; Caimi, A; Morelli, M; Zuccotti, G V

2015-04-01

Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Use of mini dental implants in ectodermal dysplasia children: follow-up of three cases.

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Sfeir, E; Nassif, N; Moukarzel, C

2014-07-01

Ectodermal dysplasia is a hereditary genodermatosis characterised by a congenital defect of ectodermal structures, causing tooth malformations and anomalies. Implantology has become accepted in these subjects. However cases are often complicated by a reduction in the size of the alveolar process, making the insertion of conventional implants difficult without bone grafting. The reduced diameter of mini-implants and their ease of insertion provide an interesting solution in supporting removable or fixed prosthesis. The purpose of this paper is to report the follow-up of three cases of children (11-12 year- old) with ectodermal dysplasia in which mini-implants were used to support the prostheses. In the first case, two mini-implants were inserted into the anterior part of the mandible for stabilising a removable denture (2 years follow-up). In the other two cases, mini- implants were inserted in the maxilla and mandible to replace missing front teeth with fixed prostheses. Patients were called for follow- up every 6 months: in the sencod case follow-up lasted 4 years in the mandible and 2 years in the maxilla; in the third case, 2 years in the maxilla and 1 year in the mandible. The use of mini-implants in children with ectodermal dysplasia can enhance aesthetics, and functional and psychosocial development.

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

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Renuka Ammanagi

2010-01-01

Full Text Available Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births. It affects men more frequently and severely, while women being the carriers and heterozygote usually show minor defects. There are more than 150 different variants of ectodermal dysplasia (ED reported in the literature. Most commonly encountered among them is hypohidrotic ED which frequently exhibits the most severe dental anomalies like hypodontia or anodontia along with hypohidrosis and hypotrichosis. Here we make an attempt to collectively report and discuss eleven South Indian patients who reported to our department during the year 1998 to 2004. An added emphasis is laid on family history of consanguineous marriage among the parents of these patients.

Prosthodontic Rehabilitation of Hereditary Ectodermal Dysplasia in an 11-Year-Old Patient with Flexible Denture: A Case Report

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Neha Jain

2012-01-01

Full Text Available Hereditary ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin such as hair, nails, teeth, and skin. The dental characteristics of this syndrome include anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment of the alveolar ridges. The options for a definitive treatment plan include fixed, removable or implant-supported prostheses, singly or in combination. This clinical report describes the prosthetic rehabilitation of an 11-year-old boy with hereditary ectodermal dysplasia. Maxillary flexible removable partial denture and mandibular conventional complete denture were fabricated to establish an acceptable masticatory function, speech, and esthetics for the patient.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

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Adi Rachmiel, DMD, PhD

2018-02-01

Conclusions:. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Hypohidrotic ectodermal dysplasia: A unique approach to esthetic and prosthetic management: A case report

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Shigli A

2005-03-01

Full Text Available Hypohidrotic ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. The condition is usually transmitted as an x-linked recessive trait, in which gene is carried by the females and manifested in males. Manifestations of the disease differ in severity and involve teeth, skin, hair, nails and sweat and sebaceous gland. Ectodermal dysplasia is usually a difficult condition to manage. Prosthodontically, because of the typical oral deficiencies, and afflicted individuals are quite young to receive extensive prosthodontic treatment, which restores their appearance and helps them, for the development of positive self-image. This case report describes the management of upper jaw with over denture with copings on existing teeth i.e. two permanent peg shaped centrals as well as lateral incisors. However with adequate of retainer lower denture was provided with a new treatment modality.

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

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Buket Uysal Aladag

2013-06-01

Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

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Karlskov-Mortensen, Peter; Cirera Salicio, Susanna; Nielsen, Ole Lerberg

2011-01-01

A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been rep...

Ectodermal dysplasia-skin fragility syndrome

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Vijay S Adhe

2011-01-01

Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET

NARCIS (Netherlands)

Shalom-Feuerstein, R.; Serror, L.; Aberdam, E.; Muller, F.J.; Bokhoven, H. van; Wiman, K.G.; Zhou, Huiqing; Aberdam, D.; Petit, I.

2013-01-01

Ectodermal dysplasia is a group of congenital syndromes affecting a variety of ectodermal derivatives. Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis.

Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia

Science.gov (United States)

Tyagi, Pallavi; Tyagi, Vipin; Hashim, Adnan A

2011-01-01

Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of this case report is to create awareness in ophthalmic community of its diagnosis and clinical manifestations. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evaluation of affected individuals and carriers and genetic counselling. PMID:22700604

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases.

Science.gov (United States)

Doğan, Mehmet-Sinan; Callea, Michele; Yavuz, Ìzzet; Aksoy, Orhan; Clarich, Gabriella; Günay, Ayse; Günay, Ahmet; Güven, Sedat; Maglione, Michele; Akkuş, Zeki

2015-05-01

This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. The clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study. Ectodermal dysplasia cases have a particular place in dentistry and require a professional, multi-disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved.

Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome

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Sener, R.N. (Dept. of Radiology, Ege Univ. Hospital, Izmir (Turkey))

1994-04-01

This paper presents a unique case of true polycystic brain in which multiple cysts of curvilinear, round, oval, or layered configuration occurred. These apparently represented extremely dilated Virchow-Robin spaces: the perivascular spaces lined by ependymal/leptomeningeal cells. Irregular retinal pigment epithelium was also evident. In addition, the patient showed ectodermal dysplasia manifesting as thin hair, dystrophic nails, and dental abnormalities. A common ectodermal origin for the brain cysts and the ectodermal changes is proposed, as it is known that the central nervous system (including the ependymal/leptomeningeal cells and the retinal cells), the epidermis (including hair and nails), and the enamel of the teeth have the same origin - the embryonic ectoderm. This association appears to be a new, distinct neurocutaneous syndrome. (orig.)

Polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia: a new neurocutaneous syndrome

International Nuclear Information System (INIS)

Sener, R.N.

1994-01-01

This paper presents a unique case of true polycystic brain in which multiple cysts of curvilinear, round, oval, or layered configuration occurred. These apparently represented extremely dilated Virchow-Robin spaces: the perivascular spaces lined by ependymal/leptomeningeal cells. Irregular retinal pigment epithelium was also evident. In addition, the patient showed ectodermal dysplasia manifesting as thin hair, dystrophic nails, and dental abnormalities. A common ectodermal origin for the brain cysts and the ectodermal changes is proposed, as it is known that the central nervous system (including the ependymal/leptomeningeal cells and the retinal cells), the epidermis (including hair and nails), and the enamel of the teeth have the same origin - the embryonic ectoderm. This association appears to be a new, distinct neurocutaneous syndrome. (orig.)

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

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Burger, Kristin; Schneider, Anne-Theres; Wohlfart, Sigrun; Kiesewetter, Franklin; Huttner, Kenneth; Johnson, Ramsey; Schneider, Holm

2014-10-01

X-linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter-familial and intra-familial variability, genotype-phenotype correlation has been demonstrated with respect to sweat gland function. In this study, we investigated to which extent the EDA genotype correlates with the severity of XLHED-related skin and hair signs. Nineteen male children with XLHED (age range 3-14 years) and seven controls (aged 6-14 years) were examined by confocal microscopy of the skin, quantification of pilocarpine-induced sweating, semi-quantitative evaluation of full facial photographs with respect to XLHED-related skin issues, and phototrichogram analysis. All eight boys with known hypomorphic EDA mutations were able to produce at least some sweat and showed less severe cutaneous signs of XLHED than the anhidrotic XLHED patients (e.g., perioral and periorbital eczema or hyperpigmentation, regional hyperkeratosis, characteristic wrinkles under the eyes). As expected, individuals with XLHED had significantly less and thinner hair than healthy controls. However, there were also significant differences in hair number, diameter, and other hair characteristics between the group with hypomorphic EDA mutations and the anhidrotic patients. In summary, this study indicated a remarkable genotype-phenotype correlation of skin and hair findings in prepubescent males with XLHED. © 2014 Wiley Periodicals, Inc.

Early implant placement for a patient with ectodermal dysplasia: Thirteen years of clinical care.

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Knobloch, Lisa A; Larsen, Peter E; Saponaro, Paola C; L'Homme-Langlois, Emilie

2017-11-29

Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth. Orthodontic treatment for the consolidation of space, composite resin restorations, and interim removable dental prostheses were provided to improve esthetics and replace the missing maxillary teeth. Skeletal growth was monitored, and orthognathic surgery was performed at the cessation of growth. The definitive rehabilitation consisted of a mandibular fixed dental prosthesis supported by dental implants and a maxillary removable dental prosthesis to restore the patient to esthetics and function. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

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Gupta, Charu; Verma, Mahesh; Gupta, Rekha; Gill, Shubhra

2015-01-01

Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treat...

Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.

Science.gov (United States)

Carlberg, Valerie M; Lofgren, Sabra M; Mann, Julianne A; Austin, Jared P; Nolt, Dawn; Shereck, Evan B; Davila-Saldana, Blachy; Zonana, Jonathan; Krol, Alfons L

2014-01-01

Osteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL-HED-ID) is a rare X-linked disorder with only three reported prior cases in the English-language literature. We describe a case of OL-HED-ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram-negative sepsis and multiple opportunistic infections including high-level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T- and B-cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL-HED-ID. This article highlights the dermatologic manifestations of a rare disorder, OL-HED-ID, and underscores the importance of early recognition and prompt intervention to prevent life-threatening infections. © 2013 Wiley Periodicals, Inc.

Respiratory problems in patients with ectodermal dysplasia syndromes.

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Fete, Timothy

2014-10-01

The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.

Hypohidrotic Ectodermal, Dysplasia with Features of Acanthosis Nigricans and Chronic Candidiasis

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Lalit Mohan

1985-01-01

Full Text Available Three siblings having hypohidrotic ectodermal dysplasia are described. In addition to trichodysplasia, odonto- dysplasia and they had acanthosis nigrilcans of the, ano-genitat area and lesions suggestive of candida infection as evidenced by chronic paronychia in the finger and toe-nail folds, and maceration in the groins.The youngest brother also had a cutaneous horn in the sacral region. Eyes showed a small interpalpebral fissure, myopia, dull foveal reflex and a convergent squint. Parents were non consanguinous. There was no demonstrable cell mediated immune defect.

Ectodermal Dysplasia Skin Fragility Syndrome

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Ayça Alan Atalay

2014-06-01

Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia

NARCIS (Netherlands)

B. Dhamo (Brunilda); M.A.R. Kuijpers (Mette); Balk-Leurs, I. (I.); Boxum, C. (C.); E.B. Wolvius (Eppo); E.M. Ongkosuwito (Edwin)

2017-01-01

textabstractStructured Abstract: Objective: To investigate phenotypic differences in dental development between isolated oligodontia and oligodontia-ectodermal dysplasia (ED). Setting and sample population: A total of 129 patients diagnosed with isolated oligodontia and 22 patients with oligodontia

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

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Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan

2017-11-16

Store-operated Ca 2+ entry (SOCE) through Ca 2+ release-activated Ca 2+ channels is an essential signaling pathway in many cell types. Ca 2+ release-activated Ca 2+ channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We performed molecular and immunologic analysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology. We performed DNA sequencing of the ORAI1 gene, modeling of mutations on ORAI1 crystal structure, analysis of ORAI1 mRNA and protein expression, SOCE measurements, immunologic analysis of peripheral blood lymphocyte populations by using flow cytometry, and histologic and ultrastructural analysis of patient tissues. We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dysplasia. The patients were homozygous for p.V181SfsX8, p.L194P, and p.G98R mutations in the ORAI1 gene that suppressed ORAI1 protein expression and SOCE in the patients' lymphocytes and fibroblasts. In addition to impaired T-cell cytokine production, ORAI1 mutations were associated with strongly reduced numbers of invariant natural killer T and regulatory T (Treg) cells and altered composition of γδ T-cell and natural killer cell subsets. ORAI1 null mutations are associated with reduced numbers of invariant natural killer T and Treg cells that likely contribute to the patients' immunodeficiency and autoimmunity. ORAI1-deficient patients have dental enamel defects and anhidrosis, representing a new form of anhidrotic ectodermal dysplasia with immunodeficiency that is distinct from previously reported patients with anhidrotic ectodermal dysplasia with immunodeficiency caused by mutations in the nuclear factor κB signaling

Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

Science.gov (United States)

Robinson, Geoffrey C.; And Others

1973-01-01

Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA Mutations

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Michael D. Keller

2011-11-01

Full Text Available Ectodermal dysplasias (ED are uncommon genetic disorders resulting in abnormalities in ectodermally-derived structures. Though many ED-associated genes have been described, the NF-κB Essential Modulator (NEMO encoded by the IKBKG gene is unique in that mutations also result in severe humoral and cellular immunologic defects. We describe three unrelated kindreds with defects in both EDA and IKBKG resulting from an X-chromosome crossover. This demonstrates the importance of thorough immunologic consideration of patients with ED even when an EDA etiology is confirmed, and raises the possibility of a specific phenotype arising from coincident mutations in EDA and IKBKB.

A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

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Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, D. L.

2014-01-01

We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous......-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. (C) 2014 Wiley Periodicals, Inc....

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsens mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

DEFF Research Database (Denmark)

Bruun Krøigård, Anne; Clemmensen, Ole; Gjørup, Hans

2016-01-01

was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental...... history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. CONCLUSION: This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions....

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

NARCIS (Netherlands)

van der Hout, Annemarie H.; Oudesluijs, Gretel G.; Venema, Andrea; Verheij, Joke B. G. M.; Mol, Bart G. J.; Rump, Patrick; Brunner, Han G.; Vos, Yvonne J.; van Essen, Anthonie J.

Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. X-linked and autosomal forms are sometimes clinically indistinguishable. For genetic

Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia.

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Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

2012-09-01

Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Science.gov (United States)

Hyder, Zerin; Beale, Victoria; O'Connor, Ruth; Clayton-Smith, Jill

2017-04-01

The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene

NARCIS (Netherlands)

Eisenkraft, A.; Pode-Shakked, B.; Goldstein, N.; Shpirer, Z.; Bokhoven, H. van; Anikster, Y.

2015-01-01

Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Science.gov (United States)

Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

2007-10-01

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.

Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.

Science.gov (United States)

Shalom-Feuerstein, Ruby; Serror, Laura; Aberdam, Edith; Müller, Franz-Josef; van Bokhoven, Hans; Wiman, Klas G; Zhou, Huiqing; Aberdam, Daniel; Petit, Isabelle

2013-02-05

Ectodermal dysplasia is a group of congenital syndromes affecting a variety of ectodermal derivatives. Among them, ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome is caused by single point mutations in the p63 gene, which controls epidermal development and homeostasis. Phenotypic defects of the EEC syndrome include skin defects and limbal stem-cell deficiency. In this study, we designed a unique cellular model that recapitulated major embryonic defects related to EEC. Fibroblasts from healthy donors and EEC patients carrying two different point mutations in the DNA binding domain of p63 were reprogrammed into induced pluripotent stem cell (iPSC) lines. EEC-iPSC from both patients showed early ectodermal commitment into K18(+) cells but failed to further differentiate into K14(+) cells (epidermis/limbus) or K3/K12(+) cells (corneal epithelium). APR-246 (PRIMA-1(MET)), a small compound that restores functionality of mutant p53 in human tumor cells, could revert corneal epithelial lineage commitment and reinstate a normal p63-related signaling pathway. This study illustrates the relevance of iPSC for p63 related disorders and paves the way for future therapy of EEC.

Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye.

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Kaercher, Thomas; Dietz, Jasna; Jacobi, Christina; Berz, Reinhold; Schneider, Holm

2015-09-01

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical characteristics include meibomian gland disorder and the resulting hyperevaporative dry eye. In this study, we evaluated meibography and ocular infrared thermography as novel methods to diagnose XLHED. Eight infants, 12 boys and 14 male adults with XLHED and 12 healthy control subjects were subjected to a panel of tests including the ocular surface disease index (OSDI), meibography and infrared thermography, non-invasive measurement of tear film break-up time (NIBUT) and osmolarity, Schirmer's test, lissamine green staining and fluorescein staining. Sensitivity and specificity were determined for single tests and selected test combinations. Meibography had 100% sensitivity and specificity for identifying XLHED. Infrared thermography, a completely non-invasive procedure, revealed a typical pattern for male subjects with XLHED. It was, however, less sensitive (86% for adults and 67% for children) than meibography or a combination of established routine tests. In adults, OSDI and NIBUT were the best single routine tests (sensitivity of 86% and 71%, respectively), whereas increased tear osmolarity appeared as a rather unspecific ophthalmic symptom. In children, NIBUT was the most convincing routine test (sensitivity of 91%). Meibography is the most reliable ophthalmic examination to establish a clinical diagnosis in individuals with suspected hypohidrotic ectodermal dysplasia, even before genetic test results are available. Tear film tests and ocular surface staining are less sensitive in children, but very helpful for estimating the severity of ocular surface disease in individuals with known XLHED.

2008 International Conference on Ectodermal Dysplasias Classification Conference Report

Science.gov (United States)

Salinas, Carlos F.; Jorgenson, Ronald J.; Wright, J. Timothy; DiGiovanna, John J.; Fete, Mary D.

2009-01-01

There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g. TP63 associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health care providers and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts. PMID:19681152

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

Directory of Open Access Journals (Sweden)

Girish Gulab Meshram

2018-01-01

Full Text Available Ectodermal dysplasia (ED is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic ED. They are caused by the mutations of several genes. We present a case of a 9-year-old child with hypohidrotic ED, who presented with hypodontia, dyshidrosis, hypotrichosis, and raised body temperature. We treated the raised body temperature symptomatically with cooling techniques and antipyretics. A multidisciplinary approach with physicians from several fields is required to provide comprehensive medical care to patients with ED.

Prosthetic rehabilitation in a pediatric patient with hypohidrotic ectodermal dysplasia: a case report.

Science.gov (United States)

Quintanilha, Luís Eduardo Lavigne Paranhos; Carneiro-Campos, Luís Eduardo; Antunes, Lívia Azeredo Alves; Antunes, Leonardo Santos; Fernandes, Claudio Pinheiro; Abreu, Fernanda Volpe

2017-01-01

Hypohidrotic ectodermal dysplasia (HED) is a rare ectodermal disease with a systemic expression. Oral abnormalities are common and may include hypodontia and shape irregularities in the primary and permanent dentitions. Rehabilitation of the dental arches in pediatric patients with HED is a challenge because HED is a multifactorial disease that demands a complicated treatment approach and most dentists have limited experience or training in the necessary treatment. In addition, pediatric patients often lack the patience or ability to cooperate with complex prosthetic treatment. This case report describes a simplified technique used to fabricate complete dentures for a 4-year-old HED patient in 4 sessions.

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Science.gov (United States)

Ahmad, Farooq; Nasir, Abdul; Thiele, Holger; Umair, Muhammad; Borck, Guntram; Ahmad, Wasim

2018-02-12

Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the NECTIN4 mutation spectrum and contributes to the NECTIN4-related clinical characterization. © 2018 John Wiley & Sons Ltd/University College London.

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

Energy Technology Data Exchange (ETDEWEB)

Kere, J. [Washington Univ. School of Medicine, St. Louis, MO (United States)]|[Univ. of Helsinki (Finland); Grzeschik, K.H. [Univ. of Marburg (Germany); Limon, J. [Medical Academy, Gdansk (Poland); Gremaud, M.; Schlessinger, D. [Washington Univ. School of Medicine, St. Louis, MO (United States); De La Chapelle, A. [Univ. of Helsinki (Finland)

1993-05-01

Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids the authors mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene. 32 refs., 3 figs., 1 tab.

BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.

Science.gov (United States)

Darbinyan, Armine; Major, Eugene O; Morgello, Susan; Holland, Steven; Ryschkewitsch, Caroline; Monaco, Maria Chiara; Naidich, Thomas P; Bederson, Joshua; Malaczynska, Joanna; Ye, Fei; Gordon, Ronald; Cunningham-Rundles, Charlotte; Fowkes, Mary; Tsankova, Nadejda M

2016-07-13

Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions. Immunohistochemistry demonstrated polyoma T-antigen in neurons and glia, but expression of VP1 capsid protein only in glia. PCR analysis on both brain biopsy tissue and cerebrospinal fluid detected high levels of BKV DNA. Sequencing studies further identified novel BKV variant and disclosed unique rearrangements in the noncoding control region of the viral DNA (BKVN NCCR). Neuropathological analysis also demonstrated an unusual form of obliterative fibrosing vasculopathy in the subcortical white matter with abnormal lysosomal accumulations, possibly related to the patient's underlying ectodermal dysplasia. Our report provides the first neuropathological description of HED-ID due to NEMO mutation, and expands the diversity of neurological presentations of BKV infection in brain, underscoring the importance of its consideration in immunodeficient patients with unexplained encephalopathy. We also document novel BKVN NCCR rearrangements that may be associated with the unique neuronal tropism in this patient.

Scanning Electron Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes.

Science.gov (United States)

Hirano-Ali, Stefanie A; Reed, Ashley M; Rowan, Brandon J; Sorrells, Timothy; Williams, Judith V; Pariser, David M; Hood, Antoinette F; Salkey, Kimberly

2015-01-01

The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes. © 2015 Wiley Periodicals, Inc.

Hypohidrotic ectodermal dysplasia - Diagnostic aids and a report of 5 cases

Directory of Open Access Journals (Sweden)

Ramesh K

2010-03-01

Full Text Available Hypohidrotic ectodermal dysplasia (HED is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of HED. Missing teeth or abnormal tooth form may be the first indicator of the disorder. We present a case report of 5 cases of HED with their intraoral findings and their treatment plan. We also consider the various etiological factors and their clinical diagnostic aids.

An unusual case of ectodermal dysplasia: combating senile features at an early age

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Gupta, Mudit; Sundaresh, Kumbar Jayadevappa; Batra, Manu; Rathva, Vandana J

2014-01-01

Ectodermal dysplasia (ED) refers to a group of inherited diseases that have developmental defects in at least two major structures derived from the ectoderm, that is, hair, teeth, nails and sweat glands. Although more than 192 distinct disorders have been described, the most common is X-linked recessive hypohidrotic ED (Christ-Siemens-Touraine syndrome). Since such patients usually presents with missing teeth, dentists are usually the first person to diagnose such cases. Diagnosis of such cases is important because absence of sweat glands can lead to hyperthermia which can be life-threatening if proper care is not taken. Through this manuscript, we report a case of anhidrotic ED affecting deciduous and permanent dentition, which is rare. PMID:24493109

Disturbances of dental development distinguish patients with oligodontia-ectodermal dysplasia from isolated oligodontia.

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Dhamo, B; Kuijpers, M A R; Balk-Leurs, I; Boxum, C; Wolvius, E B; Ongkosuwito, E M

2018-02-01

To investigate phenotypic differences in dental development between isolated oligodontia and oligodontia-ectodermal dysplasia (ED). A total of 129 patients diagnosed with isolated oligodontia and 22 patients with oligodontia as part of ED were eligible. The phenotype of dental development was assessed for the frequency of missing a certain tooth, dental age, development of each tooth present, abnormal size and abnormal shape of teeth. The data were analysed building linear, ordinal and logistic regression models. Compared to patients with isolated oligodontia, patients with oligodontia-ED missed more frequently central incisors and second molars in both jaws, and lateral incisors in the mandible (P ectodermal abnormalities. © 2017 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

Characterization of X-linked Hypohidrotic Ectodermal Dysplasia (XL-HED) Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

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Jones, Kyle B.; Goodwin, Alice F.; Landan, Maya; Seidel, Kerstin; Tran, Dong-Kha; Hogue, Jacob; Chavez, Miquella; Fete, Mary; Yu, Wenli; Hussein, Tarek; Johnson, Ramsey; Huttner, Kenneth; Jheon, Andrew H.; Klein, Ophir D.

2015-01-01

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic sweat glands and thin, sparse hair are phenotypic features that significantly affect the daily lives of XL-HED individuals and therefore require systematic analysis. We sought to determine the quality of life of individuals with XL-HED and to quantify sweat duct and hair phenotypes using confocal imaging, pilocarpine iontophoresis, and phototrichogram analysis. Using these highly sensitive and non-invasive techniques, we demonstrated that 11/12 XL-HED individuals presented with a complete absence of sweat ducts and that none produced sweat. We determined that the thin hair phenotype observed in XL-HED was due to multiple factors, such as fewer terminal hairs with decreased thickness and slower growth rate, as well as fewer follicular units and fewer hairs per unit. The precise characterization of XL-HED phenotypes using sensitive and non-invasive techniques presented in our study will improve upon larger genotype-phenotype studies and in the assessment of future therapies in XL-HED. PMID:23687000

A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.

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Li, Xiaoxiao; Orseth, Meredith Lee; Smith, J Michael; Brehm, Mary Abigail; Agim, Nnenna Gebechi; Glass, Donald Alexander

2017-03-01

Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC13 in human hair and nail development. © 2017 Wiley Periodicals, Inc.

Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes

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Mark, Barry J.; Becker, Bradley A.; Halloran, Donna R.; Bree, Alanna F.; Sindwani, Raj; Fete, Mary D.; Motil, Kathleen J.; Srun, Sopheak W.; Fete, Timothy J.

2013-01-01

Background Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. Objective To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. Methods A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). Results We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. Conclusion This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens. PMID:22626597

Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children.

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Sfeir, Elia; Nahass, Mona G; Mourad, Ayman

2017-01-01

Severe oligodontia is one of the most important symptoms in children with hypohidrotic ectodermal dysplasia (HED). The growth of the maxilla is a key consideration in restoring their mouth. The aim of this study was to evaluate the transversal maxillary sutural growth, after passive masticatory stimulation, in HED children. We also thought to assess the efficiency and functional outcome of the proposed propriocep-tive passive expansion (PPE) prosthetic device. We studied 13 children (age 6-11 years) suffering from HED with severe oligodontia. Their maxilla was restored by a PPE device formed from two parts and joined by a passive slide system. Distance between the two parts was noted at the anterior and posterior regions at each control visit over an average of 23 months. We also conducted and filled a satisfaction questionnaire over the same period. We tested the hypothesis that the posterior expansion is greater than the anterior expansion (one-tailed Student's t-test with p-value Ectodermal Dysplasia Children. Int J Clin Pediatr Dent 2017;10(1):55-61.

Using implants for prosthodontic rehabilitation of a 4-year-old with ectodermal dysplasia.

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Toomarian, Lida; Ardakani, Mohammad Reza Talebi; Ramezani, Jamileh; Adli, Amin Rezaei; Tabari, Zahra Alizadeh

2014-01-01

Ectodermal dysplasia (ED) is an inherited disorder that affects ectodermally derived organs, such as teeth. Pathogenesis is thought to involve an altered epithelium-mesenchymal interaction. ED patients have oligodontia (or sometimes anodontia) in addition to other abnormalities involving the skin, sweat glands, or hair. Many different subtypes have been introduced in the literature. This article describes the case of a 4-year-old patient who, after being diagnosed with ED, was put on a treatment plan that involved mandibular implants, reshaping of the maxillary primary central incisors, and prosthetic dental rehabilitation. Due to the child's rapid growth, both dentures were changed 9 months post-treatment. Two years post-treatment, the maxillary denture was changed again and the child was placed under close supervision.

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

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Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

2015-07-01

Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

Ectodermal dysplasia-skin fragility syndrome: A rare case report

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Subhash Kashyap

2015-01-01

Full Text Available Ectodermal dysplasia/skin fragility syndrome (ED-SFS is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1, which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality.

Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review.

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Wang, Y; He, J; Decker, A M; Hu, J C; Zou, D

2016-08-01

The purpose of this review was to determine the outcome of oral function reconstruction in ectodermal dysplasia (ED) patients who have received dental implant therapy. A search was made of the PubMed and Web of Science databases; key words used were "(ectodermal dysplasia) AND (implant OR implants)", with supplementary retrieval key words "dental implant", "zygomatic implant", "anodontia", and "edentulous". Patient age, use of bone graft, implant site, type of implant, and survival rate of the implants were included in the subsequent data analysis. Forty-five articles published between 1988 and October 2015 were included in this analysis. The cases of a total of 96 patients were retrieved (22 children and 74 adults); these patients received a total of 701 implants. Fourteen implants were removed during a median follow-up time of 24 months. The 24-month implant survival rate was 97.9% in adult subjects and 98.6% in children. Sixty-eight percent of adult patients underwent bone augmentation prior to implant placement. Based on this review, dental implants are commonly used in the oral reconstruction of ED patients. However, long-term data on bone augmentation and implant success are needed, as well as additional clinical evidence on bone resorption, the esthetic outcomes of implant therapy, and physiological considerations in ED patients. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome with Tetralogy of Fallot: a very rare combination

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Deepak eSharma

2015-06-01

Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births. It is known with various names which includes split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

Oral rehabilitation of a young patient with hypohidrotic ectodermal dysplasia: A clinical report

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A Anuroopa

2012-01-01

Full Text Available Ectodermal dysplasia (ED represents a group of patients with mild to severe congenital and developmental anomalies. Dentists are the first person to identify ED in young patients. The impairment is not just the form and function but extends to the social outlook as well as the psychology of the affected individual. This case report describes management of ED with a long-span fixed partial denture fabricated using a Broadrick flag.

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

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Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, Dorte Launholt; Jensen, Peter Kjestrup Axel

2014-08-01

We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. © 2014 Wiley Periodicals, Inc.

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

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Hertz, Jens Michael; Nørgaard Hansen, K; Juncker, I

1998-01-01

Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a predi...... in the protein. This mutation cosegregates with the disease in the family and is the first mutation described which affects the predicted transmembrane, hydrophobic domain of the protein.......Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes...... a predicted transmembrane protein of 135 amino acids, which was found to be expressed in keratinocytes, hair follicles, and sweat glands. A variety of rearrangements in this gene have been found in patients with hypohidrotic ectodermal dysplasia. We have screened the probands from nine unrelated Danish...

A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia

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Pariset Lorraine

2011-07-01

Full Text Available Abstract Background X-linked anhidrotic ectodermal dysplasia is a disorder characterized by abnormal development of tissues and organs of ectodermal origin caused by mutations in the EDA gene. The bovine EDA gene encodes the ectodysplasin A, a membrane protein expressed in keratinocytes, hair follicles and sweat glands, which is involved in the interactions between cell and cell and/or cell and matrix. Four mutations causing ectodermal dysplasia in cattle have been described so far. Results We identified a new single nucleotide polymorphism (SNP at the 9th base of exon 8 in the EDA gene in two calves of Holstein Friesian cattle breed affected by ectodermal dysplasia. This SNP is located in the exonic splicing enhancer (ESEs recognized by SRp40 protein. As a consequence, the spliceosome machinery is no longer able to recognize the sequence as exonic and causes exon skipping. The mutation determines the deletion of the entire exon (131 bp in the RNA processing, causing a severe alteration of the protein structure and thus the disease. Conclusion We identified a mutation, never described before, that changes the regulation of alternative splicing in the EDA gene and causes ectodermal dysplasia in cattle. The analysis of the SNP allows the identification of carriers that can transmit the disease to the offspring. This mutation can thus be exploited for a rational and efficient selection of unequivocally healthy cows for breeding.

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

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Zeng, B; Lu, H; Xiao, X; Zhou, L; Lu, J; Zhu, L; Yu, D; Zhao, W

2015-11-01

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation. The EDA gene of six patients with HED was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with XLHED and EDA-related NSH regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype-phenotype correlations. In four of the six patients, we identified a novel mutation c.852T>G (p.Phe284Leu) and three reported mutations: c.467G>A (p.Arg156His), c.776C>A (p.Ala259Glu), and c.871G>A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype-phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the TNF homology domain were correlated with fewer missing teeth. This study extended the mutation spectrum of XLHED and revealed the relationship between genotype and the number of missing permanent teeth. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Influence of oral rehabilitation on the oral health-related quality of life of a child with ectodermal dysplasia.

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de Alencar, Nashalie Andrade; Reis, Kátia Rodrigues; Antonio, Andréa Gonçalves; Maia, Lucianne Cople

2015-01-01

Ectodermal dysplasia (ED) is a rare congenital hereditary disorder among a group of syndromes characterized by abnormalities of ectodermic structures. The purpose of this report is to compare the oral health-related quality of life (OHRQoL) before and after complete oral rehabilitation of a five-year-old boy with ED. Delivery of upper and lower dentures resulted in immediate improvement of the child's OHRQoL. Although ED affects patients physically and emotionally, the early oral rehabilitation of young patients is crucial to improve their social interaction and restore their speech and masticatory function.

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

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Yoshioka, Takakazu; Nishikomori, Ryuta; Hara, Junichi; Okada, Keiko; Hashii, Yoshiko; Okafuji, Ikuo; Nodomi, Seishiro; Kawai, Tomoki; Izawa, Kazushi; Ohnishi, Hidenori; Yasumi, Takahiro; Nakahata, Tatsutoshi; Heike, Toshio

2013-10-01

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation. The clinical presentation of an AD-EDA-ID patient was described and immunological, genetic, and biochemical analyses were performed, with a focus on nuclear factor kappa B (NF-κB) activation. The patient presented with symptoms of mild EDA-ID, namely sparse hair and hypohidrosis, although a skin biopsy confirmed the presence of sweat glands. There were no dental abnormalities. The patient also suffered from non-infectious inflammation, which responded to systemic corticosteroid therapy; however, the patient remained ill. Immunological analyses revealed reduced Toll-like receptor/IL-1 (TLR/IL-1) and tumor necrosis factor (TNF) receptor family responses to various stimuli. Genetic analysis identified a de novo heterozygous missense mutation, p.Ser36Tyr, in NFKBIA, resulting in defective NFKBIA degradation and impaired NF-κB activation. The patient was diagnosed with AD-EDA-ID and underwent hematopoietic stem cell transplantation. Engraftment was successful, with few signs of acute graft versus host disease. However, the patient suffered hemolytic anemia and thrombocytopenia, and died from a brain hemorrhage due to intractable thrombocytopenia. AD-EDA-ID patients can present with mild ectodermal dysplasia and non-infectious inflammation, rather than with recurrent infections. Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

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Sharma, Gaurav; Nagpal, Archna

2017-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].

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Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E; Giglio, Sabrina R; Sani, Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella

2017-02-01

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed. Sociedad Argentina de Pediatría.

Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up.

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Cezária Triches, Thaisa; Ximenes, Marcos; Oliveira de Souza, João Gustavo; Rodrigues Lopes Pereira Neto, Armando; Cardoso, Antônio Carlos; Bolan, Michele

2017-01-01

Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. The mother reported that the patient had ED. Clinical and radiographic examination revealed the congenital absence of several primary and permanent teeth and tooth germs. Subsequent oral rehabilitation comprised the application of a maxillary denture and mandibular implant-supported fixed prosthesis. The child was also supplied with a wig for further enhancement of esthetics aimed at improving her emotional wellbeing. Psychological follow-up and speech therapy were also provided. After 4 years of follow-up, implant-supported oral rehabilitation has proved to be a satisfactory treatment option, allowing restoration of masticatory, phonetic, and esthetic function, as well as an improvement in the patient's self-esteem and social wellbeing.

Requirement of Smad4 from Ocular Surface Ectoderm for Retinal Development.

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Li, Jing; Wang, Shusheng; Anderson, Chastain; Zhao, Fangkun; Qin, Yu; Wu, Di; Wu, Xinwei; Liu, Jia; He, Xuefei; Zhao, Jiangyue; Zhang, Jinsong

2016-01-01

Microphthalmia is characterized by abnormally small eyes and usually retinal dysplasia, accounting for up to 11% of the blindness in children. Right now there is no effective treatment for the disease, and the underlying mechanisms, especially how retinal dysplasia develops from microphthalmia and whether it depends on the signals from lens ectoderm are still unclear. Mutations in genes of the TGF-β superfamily have been noted in patients with microphthalmia. Using conditional knockout mice, here we address the question that whether ocular surface ectoderm-derived Smad4 modulates retinal development. We found that loss of Smad4 specifically on surface lens ectoderm leads to microphthalmia and dysplasia of retina. Retinal dysplasia in the knockout mice is caused by the delayed or failed differentiation and apoptosis of retinal cells. Microarray analyses revealed that members of Hedgehog and Wnt signaling pathways are affected in the knockout retinas, suggesting that ocular surface ectoderm-derived Smad4 can regulate Hedgehog and Wnt signaling in the retina. Our studies suggest that defective of ocular surface ectoderm may affect retinal development.

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.

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Savasta, Salvatore; Carlone, Giorgia; Castagnoli, Riccardo; Chiappe, Francesca; Bassanese, Francesco; Piras, Roberta; Salpietro, Vincenzo; Brazzelli, Valeria; Verrotti, Alberto; Marseglia, Gian L

2017-01-01

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations. © 2017 S. Karger AG, Basel.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

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Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

2015-10-01

Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

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Debangshu Ghosh

2015-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

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Ramírez-Alejo, Noé; Alcántara-Montiel, Julio C; Yamazaki-Nakashimada, Marco; Duran-McKinster, Carola; Valenzuela-León, Paola; Rivas-Larrauri, Francisco; Cedillo-Barrón, Leticia; Hernández-Rivas, Rosaura; Santos-Argumedo, Leopoldo

2015-10-01

NF-κB essential modulator (NEMO) is a component of the IKK complex, which participates in the activation of the NF-κB pathway. Hypomorphic mutations in the IKBKG gene result in different forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males without affecting carrier females. Here, we describe a hypomorphic and missense mutation, designated c.916G>A (p.D306N), which affects our patient, his mother, and his sister. This mutation did not affect NEMO expression; however, an immunoprecipitation assay revealed reduced ubiquitylation upon CD40-stimulation in the patient's cells. Functional studies have demonstrated reduced phosphorylation and degradation of IκBα, affecting NF-κB recruitment into the nucleus. The patient presented with clinical features of ectodermal dysplasia, immunodeficiency, and immune thrombocytopenic purpura, the latter of which has not been previously reported in a patient with NEMO deficiency. His mother and sister displayed incontinentia pigmenti indicating that, in addition to amorphic mutations, hypomorphic mutations in NEMO can affect females. Copyright © 2015 Elsevier Inc. All rights reserved.

Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient.

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Gupta, Charu; Verma, Mahesh; Gupta, Rekha; Gill, Shubhra

2015-09-01

Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner.

Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

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Charu Gupta

2015-01-01

Full Text Available Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED. Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treatment alternative for ED patients with compromised dentition and limited finances. A 21-year-old young girl presented with chief complaint of esthetics and mastication due to missing upper and lower teeth. A provisional diagnosis of ED was made based on familial history, physical, and oral examination. This clinical report describes management of an adult ED patient by means of telescopic overdenture prosthesis in mandibular arch and FDP in maxillary arch which restored esthetics, function, and social confidence of the patient in a cost effective manner.

The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010.

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Nguyen-Nielsen, Mary; Skovbo, Stine; Svaneby, Dea; Pedersen, Lars; Fryzek, Jon

2013-05-01

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterised by hypohidrosis, sparse hair, and teeth abnormalities. Infants with XLHED have an increased risk of death by hyperpyrexia. XLHED is the most common form of hypohidrotic ectodermal dysplasia (HED); however, no population-based prevalence estimates are available. We aimed to: 1) estimate the prevalence of XLHED in the Danish population per January 1, 2011; 2) identify the most frequent age at time of diagnosis; and 3) quantify the most frequent clinical feature associated with XLHED. We conducted a nationwide cross-sectional study (1995-2010). We leveraged national medical registries and data from clinical departments to categorise XLHED cases into three groups: 1) Molecularly-confirmed XLHED; 2) Clinically-diagnosed HED (registered with ICD-10 Q 82.4); and 3) Possible HED (registered with sufficient clinical features based on a clinical algorithm that we designed). We identified 90 molecularly-confirmed XLHED, 146 clinically-diagnosed HED, and 988 possible HED cases between 1995 and 2010 (total n = 1224). The prevalence was 21.9 per 100,000 overall and 1.6 per 100,000 when restricting to molecularly-confirmed XLHED cases. The most frequent age at time of XLHED diagnosis occurred between the ages of 11 and 18 years. Teeth abnormalities occurred in 79% of all cases and 52% of molecularly-confirmed cases as a primary clinical marker. We present the first ever population-based prevalence estimates of XLHED and suggest that the prevalence of XLHED may be higher than previously estimated. Diagnosis occurs most frequently during adolescence and teeth abnormalities were the most frequent clinical marker of XLHED. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Osseointegrated Supported Prosthesis and Interdisciplinary Approach for Prosthodontic Rehabilitation of a Young Patient with Ectodermal Dysplasia

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Karthik M. Sadashiva

2013-01-01

Full Text Available Anhidrotic ectodermal dysplasia is a triad of hypodontia or anodontia, hypotrichosis, and hypohydrosis, associated with other problems that result from the defective development of structures of ectodermal origin (Freire-Maia, Pinheiro (1988. Early and extensive dental treatment is needed keeping in mind the effect on the craniofacial growth. Due to rapid growth of the jaws, the patients are rehabilitated using removable prostheses (Tarjan et al. (2005. Hence for a young patient in this case report, the placement of endosseous osseointegrated implants was delayed till adulthood. Finally a definitive fixed tooth-supported and osseointegrated implant supported fixed partial denture therapy was used to rehabilitate the patient satisfactorily after she had completed her growth (Sweeney et al. (2005. A review of the current literature relevant to several aspects of syndromic hypodontia, patient selection, and implant planning is discussed.

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

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Eisenkraft, Arik; Pode-Shakked, Ben; Goldstein, Nurit; Shpirer, Zvi; van Bokhoven, Hans; Anikster, Yair

2015-01-01

Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish descent, in which the index patient presented with a persistent scalp skin lesion, dystrophic nails and light thin hair. Further evaluation revealed over 10 affected individuals in the kindred, over four generations, exhibiting varying degrees of ectodermal involvement. Analysis of the TP63 gene from four of the patients and from two healthy individuals of the same family was performed. Gene sequencing of the patients revealed a nonsense mutation leading to a premature termination codon (PTC) (p.Gln16X). The same mutation was found in all tested affected individuals in the family, but gave rise to marked phenotypic variability with minor clinical manifestations in some individuals, underscoring the clinical heterogeneity associated with the recently described PTC-causing mutations.

X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.

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Fete, Mary; Hermann, Julie; Behrens, Jeffrey; Huttner, Kenneth M

2014-10-01

The web-based Ectodermal Dysplasia International Registry (EDIR) is a comprehensive patient-reported survey contributing to an understanding of ectodermal dysplasia (ED). XLHED is the most common of the genetic ED syndromes and was the primary diagnosis reported by 223/835 respondents (141 males and 82 females). Overall, 96% of XLHED registrants reported as least one other affected family member and 21% reported a family history of infant or childhood deaths, consistent with the published mortality data in this disorder. In general, XLHED is diagnosed by the triad of decreased sweating, reduced hair, and hypodontia (present in 89%, 74%, and 74% of XLHED respondents). Additionally, the registry dataset confirmed a spectrum of life-long XLHED clinical complications including recurrent sinus infections (49% males, 52% females), nasal congestion often foul smelling and interfering with feeding (73% males, 27% females), eczema (66% males, 40% females), wheezing (66% males, 45% females), and a hoarse, raspy voice (67% males, 23% females). The Registry results also highlighted features consistently differentiating XLHED from the non-hypohidrotic ED syndromes including the frequency of infant/childhood deaths, the presence of limb/digit abnormalities, feeding issues related to nasal discharge, dentures, and a diagnosis of asthma. These results represent the largest collection of data on a broad-spectrum of health-related issues affecting ED patients. This project provides information for expanding knowledge of the natural history of XLHED, and as such may facilitate the diagnosis and treatment of its varied and lifelong medical challenges. © 2014 Wiley Periodicals, Inc.

A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.

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Torkamandi, Shahram; Gholami, Milad; Mohammadi-Asl, Javad; Rezaie, Somaye; Zaimy, Mohammad Ali; Omrani, Mir Davood

2016-01-01

Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of a family,and in heterozygous form in carriers. Bioinformatics analysis showed that this mutation can create a new broken splicing site and lead to aberrant splicing.

Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

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Maxim, Rolanda A.; Zinner, Samuel H.; Matsuo, Hisako; Prosser, Theresa M.; Fete, Mary; Leet, Terry L.; Fete, Timothy J.

2012-01-01

Objective. Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. Results. There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1) cognitive vocabulary scores and cognitive composite scores; (2) educational achievement for mathematics, reading, and composite scores. Conclusion. Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD. PMID:22536143

Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia

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Rolanda A. Maxim

2012-01-01

Full Text Available Objective. Hypohidrotic ectodermal dysplasia (HED is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years and 59 matched unaffected controls (70% males, mean age 9.79 years were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. Results. There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1 cognitive vocabulary scores and cognitive composite scores; (2 educational achievement for mathematics, reading, and composite scores. Conclusion. Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD.

REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

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Susi R. Puspita Dewi

2015-07-01

Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.

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Schnabl, D; Grunert, I; Schmuth, M; Kapferer-Seebacher, I

2018-04-21

Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterised by hypo- or anhidrosis, hypotrichosis and hypo- or oligo- or anodontia. We aimed to systematically assess the spectrum of prosthodontic approaches with regard to the patients' age and to provide clinical implications for practicing dentists. An electronic and manual search was conducted in four databases (Medline, LIVIVO, Cochrane Library, Web of Science Core Collection). Publications of multiple study designs written in English or German without data restrictions, reporting on prosthodontic treatment of patients diagnosed with HED and afflicted with oligo- or anodontia, were included. In total, 75 articles on 146 patients were analysed according to the patients' age. In children aged 2-17 years, removable full or partial (over)dentures represented standard treatment. In the mandible, implant-supported removable dentures on two interforaminal implants presented an alternative, already in young childhood. In cases with more than six teeth per jaw, also fixed (resin) bridges were used, frequently after orthodontic treatment. In adults, fixed or removable reconstructions with the help of up to eight implants per jaw, usually placed after bone augmentation procedures, were standard. Ten case reports/series with long-term follow-up illustrated the need for consistent maintenance including denture renewals. Prosthodontic rehabilitation should start in early childhood and needs to be revised in accordance with the patients' growth. Treatment should be carried out by a multidisciplinary team addressing variable demands in different age groups. © 2018 John Wiley & Sons Ltd.

Amino-terminal residues of ΔNp63, mutated in ectodermal dysplasia, are required for its transcriptional activity.

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Lena, Anna Maria; Duca, Sara; Novelli, Flavia; Melino, Sonia; Annicchiarico-Petruzzelli, Margherita; Melino, Gerry; Candi, Eleonora

2015-11-13

p63, a member of the p53 family, is a crucial transcription factor for epithelial development and skin homeostasis. Heterozygous mutations in TP63 gene have been associated with human ectodermal dysplasia disorders. Most of these TP63 mutations are missense mutations causing amino acidic substitutions at p63 DNA binding or SAM domains that reduce or abolish the transcriptional activity of mutants p63. A significant number of mutants, however, resides in part of the p63 protein that apparently do not affect DNA binding and/or transcriptional activity, such as the N-terminal domain. Here, we characterize five p63 mutations at the 5' end of TP63 gene aiming to understand the pathogenesis of the diseases and to uncover the role of ΔNp63α N-terminus residues in determining its transactivation potential. Copyright © 2015 Elsevier Inc. All rights reserved.

Oral rehabilitation of a patient with ectodermal dysplasia with prosthodontics treatment

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Srinivas Nallanchakrava

2013-01-01

Full Text Available Ectodermal dysplasia (ED is a rare, congenital disease that involves the sweat glands, scalp hair, nails, skin pigmentation, and craniofacial structure. Oral symptoms of ED include multiple tooth abnormalities (such as hypodontia, anadontia, impacted teeth, and peg-shaped or conical anterior teeth and lack of normal alveolar ridge development. A 12-year-old male patient, in the absence of any other systemic abnormalities, exhibited typical characteristics of ED, visited our department of pedodontics and preventive dentistry at Panineeya Mahavidyalaya Institute of Dental Sciences and Research Centre. In the clinical and radiographic evaluation, it was occurred that he had only maxillary and mandibular first molars in his mouth. A maxillary and mandibular denture with clasps for retention was fabricated for prosthodontic rehabilitation after considering his growth and the number and condition of his present teeth. At the 18-month follow-up no major complications occurred and further future treatment included implants retained fixed partial dentures.

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.

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Huang, S X; Liang, J L; Sui, W G; Lin, H; Xue, W; Chen, J J; Zhang, Y; Gong, W W; Dai, Y; Ou, M L

2015-08-28

Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we report a patient with hypohidrotic ED (HED) without family history. We identified that this patient's disorder arises from an X-linked HED with a mutation in the EDA gene (G299D) found by whole-exome sequencing. In addition, in this paper we summarize the disease-causing mutations based on current literature. Overall, recent clinical and genetic research involving patients with HED have uncovered a large number of pathogenic mutations in EDA, which might contribute to a full understanding of the function of EDA and the underlying mechanisms of HED caused by EDA mutations.

Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

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Gonzalez, Francisco; Loidi, Lourdes; Abalo-Lojo, Jose M

2017-01-01

Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome is a disorder resulting from anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein. This is an important regulatory protein involved in epidermal proliferation and differentiation. Genome sequencing was performed in DNA from peripheral blood leukocytes of a newborn with AEC syndrome and her parents. Variants were searched in all coding exons and intron-exon boundaries of the TP63 gene. A heterozygous missense variant (NM_003722.4:c.1063G>C (p.Asp355His) was found in the newborn patient. No variants were found in either of the parents. We identified a previously unreported variant in TP63 gene which seems to be involved in the somatic malformations found in the AEC syndrome. The absence of this variant in both parents suggests that the variant appeared de novo.

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

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Wohlfart, Sigrun; Söder, Stephan; Smahi, Asma; Schneider, Holm

2016-01-01

Hypohidrotic ectodermal dysplasia (HED) is a rare disorder characterized by deficient development of structures derived from the ectoderm including hair, nails, eccrine glands, and teeth. HED forms that are caused by mutations in the genes EDA, EDAR, or EDARADD may show almost identical phenotypes, explained by a common signaling pathway. Proper interaction of the proteins encoded by these three genes is important for the activation of the NF-κB signaling pathway and subsequent transcription of the target genes. Mutations in the gene EDARADD are most rarely implicated in HED. Here we describe a novel missense mutation, c.367G>A (p.Asp123Asn), in this gene which did not appear to influence the interaction between EDAR and EDARADD proteins, but led to an impaired ability to activate NF-κB signaling. Female members of the affected family showed either unilateral or bilateral amazia. In addition, an affected girl developed bilateral ovarian teratomas, possibly associated with her genetic condition. © 2015 Wiley Periodicals, Inc.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

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Khan, Anwar Kamal; Muhammad, Noor; Aziz, Abdul; Khan, Sher Alam; Shah, Khadim; Nasir, Abdul; Khan, Muzammil Ahmad; Khan, Saadullah

2017-04-12

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. In this study, a four generations consanguineous family of Pakistani origin with autosomal recessive PHNED was investigated. Affected members exhibited PHNED phenotypes with involvement of complete hair loss and nail dysplasia. To screen for mutation in the genes (HOXC13, KRT74, KRT85), its coding exons and exons-intron boundaries were sequenced. The 3D models of normal and mutated HOXC13 were predicted by using homology modeling. Through investigating the family to known loci, the family was mapped to ectodermal dysplasia 9 (ECTD9) loci with genetic address of 12q13.13. Mutation screening revealed a novel missense mutation (c.929A > C; p.Asn310Thr) in homeobox DNA binding domain of HOXC13 gene in affected members of the family. Due to mutation, loss of hydrogen bonding and difference in potential energy occurs, which may resulting in alteration of protein function. This is the first mutation reported in homeodomain, while 5 th mutation reported in HOXC13 gene causing PHNED.

Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.

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Podzus, J; Kowalczyk-Quintas, C; Schuepbach-Mallepell, S; Willen, L; Staehlin, G; Vigolo, M; Tardivel, A; Headon, D; Kirby, N; Mikkola, M L; Schneider, H; Schneider, P

2017-02-01

The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function. In this study, the authors measured EDA in serum, saliva and dried blood spots. The authors detected 3- to 4-fold higher levels of circulating EDA in cord blood than in adult sera. A receptor binding-competent form of EDA1 was the main form of EDA but a minor fraction of EDA2 was also found in fetal bovine serum. Sera of EDA-deficient patients contained either background EDA levels or low levels of EDA that could not bind to recombinant EDAR. The serum of a patient with a V262F missense mutation in Eda, which caused a milder form of X-linked HED (XLHED), contained low levels of EDA capable of binding to EDAR. In 2 mildly affected carriers, intermediate levels of EDA were detected, whereas a severely affected carrier had no active EDA in the serum. Small amounts of EDA were also detectable in normal adult saliva. Finally, EDA could be measured in spots of wild-type adult or cord blood dried onto filter paper at levels significantly higher than that measured in EDA-deficient blood. Measurement of EDA levels combined with receptor-binding assays might be of relevance to aid in the diagnosis of total or partial EDA deficiencies.

Hereditary ectodermal dysplasia: A retrospective study

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More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

2013-01-01

Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

Hereditary ectodermal dysplasia: A retrospective study.

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More, Chandramani B; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N; Tailor, Mansi

2013-07-01

Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients.

Removable partial dentures vs overdentures in children with ectodermal dysplasia: two case reports.

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Maroulakos, G; Artopoulou, I I; Angelopoulou, M V; Emmanouil, D

2016-06-01

Ectodermal dysplasia (ED) represents a disorder group characterised by abnormal development of the ectodermal derivatives. Removable partial dentures (RPD), complete dentures (CD) or overdentures (OD) are most often the treatment of choice for young affected patients. Prosthetic intervention is of utmost importance in the management of ED patients, as it resolves problems associated with functional, aesthetic, and psychological issues, and improves a patient's quality of life. However, few studies present the principles and guidelines that can assist in the decision-making process of the most appropriate removable prosthesis. The purpose of this study was to suggest a simple treatment decision-making algorithm for selecting an effective and individualised rehabilitative treatment plan, considering different parameters. The cases and treatment of two young ED patients are described and each one was treated with either RPDs or ODs. Periodic recalls were employed to manage problems, and monitor the changes associated with occlusion and fit of the prostheses in relation to each patient's growth. Both patients were followed up for more than 2 years and reported significant improvement in their appearance, masticatory function, and social behaviour as a result of the prosthetic rehabilitation. The main factors guiding the decision process towards the choice of an RPD or an OD are the presence of posterior natural teeth, facial aesthetics, lip support, number and size of existing natural teeth, and the occlusal vertical dimension.

Dental implants for severely atrophied jaws due to ectodermal dysplasia

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Preetha Balaji

2015-01-01

Full Text Available The aim was to present the successful esthetical and functional rehabilitation of partial anodontia in a case of severe ectodermal dysplasia with complete atrophy of the jaws. A 17-year-old male with Class III malocclusion with partial anodontia sought dental implant treatment. His expectation was that of Class I occlusion. The challenge in the case was to match the expectation, reality, and the clinical possibilities. Ridge augmentation was performed with a combination of rib graft and recombinant human bone morphogenetic protein-2. Simultaneously, 6 implants (Nobel Biocare™ - Tapered Groovy were placed in maxillary arch and 10 in the mandible. Simultaneous placement ensured faster and better osseointegration though a mild compromise of the primary stability was observed initially. After adequate healing, Customized Zirconia Procera™ system was used to build the framework. Zirconia crown was cemented to the framework. Radiological and clinical evidence of osseointegration was observed in all 16 dental implants. Successful conversion of Class III to Class I occlusion was achieved with the combination of preprosthetic alveolar ridge augmentation, Procera™ Implant Bridge system. Abnormal angulations and or placement of dental implants would result in failure of the implant. Hence conversion of Class III to Class I occlusion needs complete and complex treatment planning so that the entire masticatory apparatus is sufficiently remodeled. Planning should consider the resultant vectors that would otherwise result in failure of framework or compromise the secondary stability of the dental implant during function. A successful case of rehabilitation of complex partial anodontia is presented.

Displasia ectodérmica: Presentación de un caso ECTODERMAL DYSPLASIA: A CASE REPORT

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Jaime Diez Betancourt

2005-04-01

Full Text Available La displasia ectodérmica es una enfermedad genética muy rara, la cual se encuentra caracterizada por manifestaciones odontoestomatológicas imponentes; presenta aspectos interesantes desde el punto de vista del diagnóstico, así como la rehabilitación conjunta ortodóntica, protésica y estética. En el Servicio de Ortodoncia de la Clínica Estomatológica INPE concurrió una paciente de 9 años de edad con manifestaciones clínicas de displasia ectodérmica, principalmente anodoncia, hipoplasia de dientes anteriores y malposición dentaria, con dientes de aspecto de conos y anomalías de las cúspides, y con afectación sicológica de la paciente. Con un tratamiento conjunto de ortodoncia y del estomatólogo general integra,l se logró restituir la maloclusión, y al mismo tiempo, con el tratamiento estético, se devolvió a la paciente a la vida socialmente útil y afectiva en vísperas de cumplir los 15 años.The ectodermic dysplasia is a very rare genetic disease that is characterized by impressive odontostomatological manifestations. It presents interesting aspects regarding the diagnosis and the joined orthodontic, prosthetic and aesthetic rehabilitation. A 9-year-old patient with clinical manifestations of ectodermic dysplasia, mainly anodontia, hypoplasia of the anterior tooth and tooth malposition, with cone-like tooth, abnormalities of the cusps and psychological affectation, presented for care at the Orthodontics Service of the INPE Dental Clinic. By a joint treatment of orthdontics and the general stomatologist, it was possible to restore malocclusion and, at the same time, with the aesthetic treatment the patient was returned to the socially useful and affective life before being 15.

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

Science.gov (United States)

2011-01-01

Background Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. It is caused by mutations in any of three Eda pathway genes: ectodysplasin (Eda), Eda receptor (Edar), and Edar-associated death domain (Edaradd), which encode ligand, receptor, and intracellular adaptor molecule, respectively. The Eda signaling pathway activates NF-κB, which is central to ectodermal differentiation. Although the causative genes and the molecular pathway affecting HED have been identified, no curative treatment for HED has been established. Previously, we found a rat spontaneous mutation that caused defects in hair follicles and named it sparse-and-wavy (swh). Here, we have established the swh rat as the first rat model of HED and successfully identified the swh mutation. Results The swh/swh rat showed sparse hair, abnormal morphology of teeth, and absence of sweat glands. The ectoderm-derived glands, meibomian, preputial, and tongue glands, were absent. We mapped the swh mutation to the most telomeric part of rat Chr 7 and found a Pro153Ser missense mutation in the Edaradd gene. This mutation was located in the death domain of EDARADD, which is crucial for signal transduction and resulted in failure to activate NF-κB. Conclusions These findings suggest that swh is a loss-of-function mutation in the rat Edaradd and indicate that the swh/swh rat would be an excellent animal model of HED that could be used to investigate the pathological basis of the disease and the development of new therapies. PMID:22013926

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

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Zeng, Binghui; Xiao, Xue; Li, Sijie; Lu, Hui; Lu, Jiaxuan; Zhu, Ling; Yu, Dongsheng; Zhao, Wei

2016-09-19

Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ectodermal dysplasia features. The four genes were analyzed in seven HED patients by PCR and Sanger sequencing. Five EDA and one EDAR heterozygous mutations were identified in families 1-6. Two WNT10A heterozygous mutations were identified in family 7 as a compound heterozygote. c.662G>A (p.Gly221Asp) in EDA and c.354T>G (p.Tyr118*) in WNT10A are novel mutations. Bioinformatics analyses results confirmed the pathogenicity of the two novel mutations. In family 7, we also identified two single-nucleotide polymorphisms (SNPs) that were predicted to affect the splicing of EDAR. Analysis of the patient's total RNA revealed normal splicing of EDAR. This ascertained that the compound heterozygous WNT10A mutations are the genetic defects that led to the onset of HED. Our data revealed the genetic basis of seven HED patients and expended the mutational spectrum. Interestingly, we confirmed WNT10A as a candidate gene of HED and we propose WNT10A to be tested in EDA-negative HED patients.

Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

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Thierry Olivry

Full Text Available In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

High-resolution mapping of the x-linked hypohidrotic ectodermal dysplasia (EDA) locus

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Zonana, J.; Jones, M.; Litt, M.; Kramer, P.; Browne, D.; Becker, H.W. (Oregon Health Sciences Univ., Portland, OR (United States)); Brockdorff, N.; Rastan, S. (Medical Council Clinical Research Centre, Harrow (United Kingdom)); Davies, K.P.; Clarke, A. (Univ. of Wales College of Medicine, Cardiff (United Kingdom)) (and others)

1992-11-01

The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. The authors have extended previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analysis gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human-rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosites of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that consegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXSA732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively. 36 refs., 1 fig., 5 tabs.

Síndrome de ectrodactilia, displasia ectodérmica y labio-paladar hendidos Syndrome of Ectrodactylism, ectodermic dysplasia and lip-cleft palate

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Mario A. Salazar Fernández

2010-06-01

Full Text Available El presente trabajo se propone reportar a un paciente masculino de 12 años de edad con presencia de la tríada completa del síndrome ectrodactilia, displasia ectodérmica y labio-paladar hendidos (EEC; señalar los hallazgos clínicos encontrados en las valoraciones, así como los tratamientos realizados. Es un síndrome autonómico dominante, con penetración incompleta y expresividad variable. Esta conjunción de signos y síntomas puede llevar a la confusión con otro tipo de entidades clínicas, y ocasionar un diagnóstico erróneo del paciente. La hendidura de labio y ausencia del conducto lagrimal no es una combinación usual en otras condiciones. Se hace mención de las manifestaciones clínicas reportadas en la literatura, y se enfatiza en las manifestaciones maxilofaciales y dentales. Los dos hermanos del paciente se consideraron normales o exentos de este síndrome.In present paper is reported the case of a patient presenting with the complete triad of Ectrodactylism syndrome, ectodermic dysplasia and lip-cleft palate, to mention the clinical findings present in assessments as well as the treatments applied. The syndrome is characterized by the triad Ectrodactylism, ectodermic dysplasia and cleft (EEC and it is autosomal dominant with incomplete penetration and a variable expressiveness. This group of signs and symptoms may be cofounded with other clinical entities, leading to a mistake diagnosis of patient. Lip cleft and lack of lacrimal duct is not a usual combination in other conditions. This is the clinical case of a male patient aged 12 with the syndrome of: Ectrodactylism, ectodermic dysplasia and lip-cleft palate. Clinical manifestations reported in literature are mentioned emphasizing the maxillofacial and dental manifestations. The two brothers of patient were normal or free of this syndrome. It is very important that the professionals charged of oral and maxillofacial health, as well the Stomatology students of Bachelor

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families

DEFF Research Database (Denmark)

Lexner, Michala Oron; Bardow, A.; Juncker, I.

2008-01-01

-chromosome inactivation pattern in female carriers. The study group comprised 67 patients from 19 families (24 affected males and 43 female carriers). All participants had clinical signs of ectodermal dysplasia and a disease-causing EDA mutation. The EDA gene was screened for mutations by single-stranded conformational...... polymorphism and direct sequencing. Multiplex ligation-dependent probe amplification (MLPA) analysis was used to detect deletions/duplications in female probands. Sixteen different EDA mutations were detected in the 19 families, nine not described previously. The MLPA analysis detected a deletion of exon 1...... in one female proband. No genotype-phenotype correlations were observed, and female carriers did not exhibit a skewed X-chromosome inactivation pattern. However, in two female carriers with pronounced clinical symptoms, in whom the parental origin of each allele was known, we observed that mainly...

Implant supported prosthesis in an edentulous boy with Hypohidrotic Ectodermal Dysplasia - "A happy boy"

DEFF Research Database (Denmark)

Gjørup, Hans; Nyhuus, Lone; Buhl, Jytte

2009-01-01

region. 3. At the age of 10 years a new set of dentures were made. This time the upper denture was made as an overdenture supported and retained by 4 implants and a Dolder bar. The surgical procedure included bone grafting from the anterior ramus mandibulae. The boy's subjective judgement of his oral......Implant supported prosthesis in an edentulous boy with Hypohidrotic Ectodermal Dysplasia - "A happy boy". Authors; Gjoerup,H1; Nyhuus,L2; Buhl,J3. 1) Center for Oral Health in Rare Conditions, Aarhus University Hospital 2) Prosthodontic Department, the Dental School, Aarhus University 3) Department...... by the patient and his family. Case presentation The boy was untreated until the age of 5 years. His oral functions were compromised in relation to speech and psychosocial aspects. In the following 6 years, he underwent prosthodontic treatment in three phases. 1. At the age of 5 years a set of complete dentures...

Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.

Science.gov (United States)

Yamasaki, Fumiyuki; Takayasu, Takeshi; Nosaka, Ryo; Kawaguchi, Hiroshi; Sugiyama, Kazuhiko; Kobayashi, Masao; Kurisu, Kaoru

2016-02-01

While cavernous angioma (CVA) after cranial irradiation has been documented, its development after high-dose chemotherapy with autologous peripheral blood stem cell transplantation (PBSCT) has not. We present a patient with desmoplastic/nodular medulloblastoma (DNMB) associated with anhidrotic ectodermal dysplasia (AED) who developed CVA 2 years after high-dose chemotherapy and PBSCT. A 1-year-old boy with ingravescent vomiting was admitted to our institute. He presented with a large head, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, hypohidrosis, sparse hair, thin atrophic skin, scaly dermatitis with frontal bossing, and a bulging anterior fontanel. Neuroradiological examination revealed multiple cerebellar masses with heterogeneous enhancement and speckled calcifications and severe obstructive hydrocephalus. The histological diagnosis of surgical specimens was DNMB, and he underwent postoperative multiple-drug chemotherapy with autologous PBSCT. The outcome was favorable and he did not undergo radiotherapy. After 2 years, intracranial hemorrhage was detected at his regular radiological check-up and he again underwent surgery. The histological diagnosis was CVA. To our knowledge, this is the first report of AED-associated DNMB and CVA.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

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Schmitt-Egenolf Marcus

2006-11-01

Full Text Available Abstract Background Hypohidrotic ectodermal dysplasia (HED is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR protein that plays an important role during embryogenesis. Methods The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED. Results A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X, thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene. Conclusion The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.

Characterization of a human X-linked gene from the DXS732E locus in the candidate region for the anhidrotic ectodermal dysplasia (EDA) gene (Xq13.1)

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Gault, J.; Zonana, J. [Oregon Health Sciences Univ., Portland, OR (United States); Zeltinger, J. [Univ. of Washington, Seattle, WA (United States)] [and others

1994-09-01

A conserved mouse genomic clone was used to identify a homologous human genomic clone (the DXS732E locus), which was subsequently employed to isolate cDNAs from a human fetal brain library. Nine unique overlapping cDNAs were isolated, and sequences analysis of 3.9 kb identified a putative 1 kb ORF. GRAIL analysis of the sequence supported the hypothesis that the putative ORF was coding sequence, and Prosite analysis of the putative ORF identified potential glycosylation and phosphorylation sites. The 5{prime} end of the gene maps within a CpG island, and comparison of cDNA sequences indicate the gene is alternatively spliced at its 3{prime} end. Northern analysis and RT-PCR indicate that two different sized messages appear to be expressed with the gene expressed in human fetal kidney, intestine, brain, and muscle. The gene is expressed in 77 day human skin, a time when hair follicle formation occurs. Anhidrotic ectodermal dysplasia (EDA) results in the abnormal morphogenesis of hair, teeth and eccrine sweat glands. A positional cloning strategy towards cloning the EDA gene had been used, and deletion and X-autosome translocation patients have been useful in further delimiting the EDA region. The present gene at the DXS732E locus is partially deleted in one EDA patient who does not have other apparent abnormalities. No rearrangements of the gene have been detected in two female X-autosome translocation EDA patients, nor in four additional male patients with submicroscopic molecular deletions.

Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.

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Wei Yin

Full Text Available Hypodontia, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED which is caused by genetic ectodysplasin A (EDA deficiency. Heterozygous female carriers tend to have mild to moderate XLHED phenotype, even though 30% of them present no obvious symptom.A large Chinese XLHED family was reported and the entire coding region and exon-intron boundaries of EDA gene were sequenced. To elucidate the mechanism for carriers' tempered phenotype, we analyzed the methylation level on four sites of the promoter of EDA by the pyrosequencing system.A known frameshift mutation (c.573-574 insT was found in this pedigree. Combined with the pedigrees we reported before, 120 samples comprised of 23 carrier females from 11 families and 97 healthy females were analyzed for the methylation state of EDA promoter. Within 95% confidence interval (CI, 18 (78.26% carriers were hypermethylated at these 4 sites.Chinese XLHED carriers often have a hypermethylated EDA promoter.

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation

Science.gov (United States)

2014-01-01

Background Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function. Methods Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S. Results The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p  T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures. PMID:24884697

Cranioectodermal Dysplasia : A Probable Ciliopathy

NARCIS (Netherlands)

Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

2009-01-01

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case

A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

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Gurudutt S. Joshi

2017-10-01

Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.

Chondroectodermal dysplasia: a rare syndrome.

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Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Dental implants in patients with ectodermal dysplasia: A systematic review.

Science.gov (United States)

Chrcanovic, Bruno Ramos

2018-05-21

This study sought to assess the clinical outcome and survival rate of oral implants placed in individuals with ectodermal dysplasia (ED), based on previously published studies. An electronic search without time restrictions was undertaken in 5 databases (PubMed/Medline, Web of Science, ScienceDirect, J-Stage, Lilacs). Descriptive statistics, Kaplan Meier estimator and implant failure probability were calculated. 90 publications were included, reporting 228 ED patients that received 1472 implants (1392 conventional, 47 zygomatic, 33 mini-implants). Mean age of the patients was 20.2 ± 6.8 years (2-56). Patients had a mean of 3.2 ± 2.5 maxillary and 2.1 ± 2.6 mandibular permanent teeth (min-max, 0-14). Patients received a mean of 8.2 ± 3.8 implants (1-20). Most implants were placed in the third decade of life, 24.6% of the implants were placed in children (0-17 years of age). 1391 implants had information on follow-up (72 failures, 5.2%). The 20-year CSR was 84.6%. The probability of failure was 4.5% (95%CI 3.5%-5.6%, p < 0.001). Additional treatments performed were Le Fort I (99 implants, 20 patients, 3.5% failed), grafting (497 implants, 77 patients, 5.2% failed), distraction osteogenesis (79 implants, 16 patients, 10.1% failed). Mean follow-up was 42.9 ± 41.9 months (min-max, 2-240). Dental implants placed in ED patients, either infants or adults, present a high survival rate (20-year CSR 84.6%). Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Stem Cell Fate Determination during Development and Regeneration of Ectodermal Organs

Science.gov (United States)

Jiménez-Rojo, Lucía; Granchi, Zoraide; Graf, Daniel; Mitsiadis, Thimios A.

2012-01-01

The development of ectoderm-derived appendages results in a large variety of highly specialized organs such as hair follicles, mammary glands, salivary glands, and teeth. Despite varying in number, shape, and function, all these ectodermal organs develop through continuous and reciprocal epithelial–mesenchymal interactions, sharing common morphological and molecular features especially during their embryonic development. Diseases such as ectodermal dysplasias can affect simultaneously these organs, suggesting that they may arise from common multipotent precursors residing in the embryonic ectoderm. During embryogenesis, these putative ectodermal stem cells may adopt different fates and consequently be able to generate a variety of tissue-specific stem cells, which are the sources for the various cell lineages that form the diverse organs. The specification of those common epithelial precursors, as well as their further lineage commitment to tissue-specific stem cells, might be controlled by specific signals. It has been well documented that Notch, Wnt, bone morphogenetic protein, and fibroblast growth factor signaling pathways regulate cell fate decisions during the various stages of ectodermal organ development. However, the in vivo spatial and temporal dynamics of these signaling pathways are not yet well understood. Improving the current knowledge on the mechanisms involved in stem cell fate determination during organogenesis and homeostasis of ectodermal organs is crucial to develop effective stem cell-based therapies in order to regenerate or replace pathological and damaged tissues. PMID:22539926

Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.

Science.gov (United States)

Mizukami, Tomoyuki; Obara, Megumi; Nishikomori, Ryuta; Kawai, Tomoki; Tahara, Yoshihiro; Sameshima, Naoki; Marutsuka, Kousuke; Nakase, Hiroshi; Kimura, Nobuhiro; Heike, Toshio; Nunoi, Hiroyuki

2012-02-01

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (X-EDA-ID) is caused by hypomorphic mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). Patients are susceptibile to diverse pathogens due to insufficient cytokine and frequently show severe chronic colitis. An 11-year-old boy with X-EDA-ID was hospitalized with autoimmune symptoms and severe chronic colitis which had been refractory to immunosuppressive drugs. Since tumor necrosis factor (TNF) α is responsible for the pathogenesis of NEMO colitis according to intestinal NEMO and additional TNFR1 knockout mice studies, and high levels of TNFα-producing mononuclear cells were detected in the patient due to the unexpected gene reversion mosaicism of NEMO, an anti-TNFα monoclonal antibody was administered to ameliorate his abdominal symptoms. Repeated administrations improved his colonoscopic findings as well as his dry skin along with a reduction of TNFα-expressing T cells. These findings suggest TNF blockade therapy is of value for refractory NEMO colitis with gene reversion.

Analogs of human genetic skin disease in domesticated animals

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Justin Finch, MD

2017-09-01

The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.

Non-invasive diagnosis of sweat gland dysplasia using optical coherence tomography and reflectance confocal microscopy in a family with anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

Science.gov (United States)

Reinholz, M; Gauglitz, G G; Giehl, K; Braun-Falco, M; Schwaiger, H; Schauber, J; Ruzicka, T; Berneburg, M; von Braunmühl, T

2016-04-01

Anhidrotic ectodermal dysplasia (AED) is an inherited syndrome, which originates mainly from genetic alteration of the ectodysplasin A (EDA) gene. It regularly affects the adnexa of the skin which results in a characteristic phenotype of the patients including hypo- or anhidrosis leading to severe disturbances in the regulation of body temperature. To prevent the development of the symptoms in early childhood promising therapeutic approaches are currently under clinical investigation. In this context, timely diagnosis of this genetic syndrome is crucial. The purpose of our study was the investigation of modern non-invasive imaging methods such as optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) in the immediate diagnosis of AED. We examined a 3-year-old boy with the suspicion for an AED syndrome and his family members with RCM and OCT to document presence and characteristic features of sweat glands in comparison to non-affected individuals. The patient and the affected brother showed significantly reduced sweat glands in the imaging compared to the controls. The genetic analysis revealed a mutation of the EDA gene for hemizygosity previously associated with AED and the mother was revealed as the conductor of the genetic alteration. With the help of non-invasive imaging, we were able to detect sweat gland dysplasia in the affected family members without performing a biopsy which led us to the diagnosis of an AED. The application of modern dermatological imaging techniques might serve as valuable supplementary tools in the immediate, non-invasive diagnosis of genetic syndromes especially in newborns when early therapeutic approaches are planned. © 2015 European Academy of Dermatology and Venereology.

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Science.gov (United States)

Barbaro, Vanessa; Nasti, Annamaria Assunta; Raffa, Paolo; Migliorati, Angelo; Nespeca, Patrizia; Ferrari, Stefano; Palumbo, Elisa; Bertolin, Marina; Breda, Claudia; Miceli, Francesco; Russo, Antonella; Caenazzo, Luciana; Ponzin, Diego; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo

2016-08-01

: Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and resolve the progressive corneal degeneration due to a premature aging of limbal epithelial stem cells. Here, we describe a unique case of a young female patient, aged 18 years, with EEC and corneal dysfunction, who was, surprisingly, homozygous for a novel and de novo R311K missense mutation in the p63 gene. A detailed analysis of the degree of somatic mosaicism in leukocytes from peripheral blood and oral mucosal epithelial stem cells (OMESCs) from biopsies of buccal mucosa showed that approximately 80% were homozygous mutant cells and 20% were heterozygous. Cytogenetic and molecular analyses excluded genomic alterations, thus suggesting a de novo mutation followed by an allelic gene conversion of the wild-type allele by de novo mutant allele as a possible mechanism to explain the homozygous condition. R311K-p63 OMESCs were expanded in vitro and heterozygous holoclones selected following clonal analysis. These R311K-p63 OMESCs were able to generate well-organized and stratified epithelia in vitro, resembling the features of healthy tissues. This study supports the rationale for the development of cultured autologous oral mucosal epithelial stem cell sheets obtained by selected heterozygous R311K-p63 stem cells, as an effective and personalized therapy for reconstructing the ocular surface of this unique case of EEC syndrome, thus bypassing gene therapy approaches. This case demonstrates that in a somatic mosaicism context, a novel homozygous mutation in the p63 gene can arise as a consequence of an allelic gene conversion event, subsequent to a de novo mutation. The heterozygous mutant R311K-p63 stem cells can be isolated by means of clonal analysis and given their good regenerative

Simultaneous functional and fixed appliance therapy for growth modification and dental alignment prior to prosthetic habilitation in hypohidrotic ectodermal dysplasia: a clinical report.

Science.gov (United States)

Suri, Sunjay; Carmichael, Robert P; Tompson, Bryan D

2004-11-01

This clinical report describes the simultaneous use of functional and fixed appliances to modify the pattern of dentofacial development and align teeth in preparation for prosthodontic habilitation of a growing child with hypohidrotic ectodermal dysplasia. The treatment objective was to create a more favorable starting point for the prosthodontic phase of habilitation by improving the sagittal and vertical skeletal relationships and facial esthetics. This was accomplished through growth modification with functional appliances conducted simultaneously with eruption of maxillary and mandibular molars, dental arch expansion, alignment, and space management using fixed orthodontic appliances. Orthodontic retention was accomplished by means of removable partial dentures. A second phase of orthodontics conducted closer to the age of skeletal maturation will aim at definitive tooth alignment in preparation for dental implant-supported restorations.

Isolation and characterization of the human CDX1 gene: A candidate gene for diastrophic dysplasia

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Bonner, C.; Loftus, S.; Wasmuth, J.J. [Univ. of California, Irvine, CA (United States)

1994-09-01

Diastrophic dysplasia is an autosomal recessive disorder characterized by short stature, dislocation of the joints, spinal deformities and malformation of the hands and feet. Multipoint linkage analysis places the diastrophic dysplasia (DTD) locus in 5q31-5q34. Linkage disequilibrium mapping places the DTD locus near CSFIR in the direction of PDGFRB (which is tandem to CSFIR). This same study tentatively placed PDGFRB and DTD proximal to CSFIR. Our results, as well as recently reported work from other laboratories, suggest that PDGFRB (and possibly DTD) is distal rather than proximal to CSFIR. We have constructed a cosmid contig covering approximately 200 kb of the region containing CSFIR. Several exons have been {open_quotes}trapped{close_quotes} from these cosmids using exon amplification. One of these exons was trapped from a cosmid isolated from a walk from PDGFRB, approximately 80 kb from CSFIR. This exon was sequenced and was determined to be 89% identical to the nucleotide sequence of exon two of the murine CDX1 gene (100% amino acid identity). The exon was used to isolate the human CDX gene. Sequence analysis of the human CDX1 gene indicates a very high degree of homology to the murine gene. CDX1 is a caudal type homeobox gene expressed during gastrulation. In the mouse, expression during gastrulation begins in the primitive streak and subsequently localizes to the ectodermal and mesodermal cells of the primitive streak, neural tube, somites, and limb buds. Later in gastrulation, CDX1 expression becomes most prominent in the mesoderm of the forelimbs, and, to a lesser extent, the hindlimbs. CDX1 is an intriguing candidate gene for diastrophic dysplasia. We are currently screening DNA from affected individuals and hope to shortly determine whether CDX1 is involved in this disorder.

Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia.

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Sfeir, Elia; Aboujaoude, Samia

2017-01-01

Hidrotic ectodermal dysplasia (ED) with the WNT10A mutation produces variable dentofacial symptoms. The aim of this study was to describe a new clinical symptom, i.e., specific to the WNT10A mutation in hidrotic ED. The study investigated the migratory trend of the lower second permanent molars to the ramus or coronoid process. To the best of authors' knowledge, no data in the literature describe this trend in cases of hidrotic ED. A three-generation family pedigree was established for seven families after the diagnosis of hidrotic ED in a 10-year-old boy. Thereafter, a genetic and clinical study was conducted on three families with at least one individual affected by hidrotic ED (20 individuals). We selected the children with molar germs 37 and 47. The eruption axes of these germs were then traced on the panoramic images at the initial time (T 0 ) and 1 year later (T 0 + 1 year), and the deviations between these axes were measured. A significant familial consanguinity was shown. Eight subjects presented with the hidrotic ED phenotype. Among them, three individuals carried germs 37 and 47. Over time, the measured deviations between the eruption axes of the latter displayed, in the majority of the cases, a distal inclination toward the ramus. A larger sample size is mandatory to assess the frequencies and treatment modalities. The presence of germs in the lower second permanent molars in patients with hidrotic ED is an important clinical symptom that should be monitored to detect and prevent ectopic migration of these teeth. In hidrotic ED cases, the study of the presence of the second lower permanent germs must include clinical and radiological examinations. Establishing an inter-ceptive treatment is necessary to prevent the migration of the molars in question. How to cite this article: Sfeir E, Aboujaoude S. Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia. Int J Clin

Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED).

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Clarke, Angus

2016-06-01

Practical experience of a genetic disorder may influence how parents approach reproduction, if they know their child may be affected by an inherited condition. One important aspect of this practical experience is the stigmatisation which family members may experience or witness. We outline the concept of stigma and how it affects those in families with a condition that impacts upon physical appearance. We then consider the accounts given by females in families affected by the rare sex-linked disorder, X-linked hypohidrotic ectodermal dysplasia (XHED), which principally affects males but can be passed through female carriers to affect their sons. The stigmatisation of affected males is as important in the accounts given by their womenfolk as the physical effects of the condition; this impacts on their talk about transmission of the disorder to the next generation. Perspectives may also change over time. The mothers of affected sons differ from their daughters, who do not yet have children, and from their mothers, who may express more strongly their sense of guilt at having transmitted the condition, despite there being no question of moral culpability. We conclude with suggestions about other contexts where the possibility of stigma may influence reproductive decisions. Copyright © 2016 The Author. Published by Elsevier Ltd.. All rights reserved.

Oral Rehabilitation of a Patient With Ectodermal Dysplasia Treated With Fresh-Frozen Bone Allografts and Computer-Guided Implant Placement: A Clinical Case Report.

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Maiorana, Carlo; Poli, Pier Paolo; Poggio, Carlo; Barbieri, Paola; Beretta, Mario

2017-05-01

Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent. Similarly, data reporting computer-aided template-guided implant placement in medically compromised patients are limited. Thus the purpose of this report is to illustrate the oral rehabilitation of a female patient affected by ED and treated with appositional FFB block grafts and consecutive computer-guided flapless implant placement in a 2-stage procedure. Fixed implant-supported dental prostheses were finally delivered to the patient, which improved her self-esteem and quality of life. During the follow-up recall 1 year after the prosthetic loading, the clinical examination showed healthy peri-implant soft tissues with no signs of bleeding on probing or pathologic probing depths. The panoramic radiograph confirmed the clinical stability of the result. Peri-implant marginal bone levels were radiographically stable with neither pathologic bone loss at the mesial and distal aspects of each implant nor peri-implant radiolucency. Within the limitations of this report, the use of FFB allografts in association with computer-aided flapless implant surgery might be considered a useful technique in patients affected by ED. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

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Kantaputra, P; Kaewgahya, M; Jotikasthira, D; Kantaputra, W

2014-04-01

We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome. © 2014 Wiley Periodicals, Inc.

Human papilloma virus infection and cervical dysplasia.

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Melinte-Popescu, Alina; Costăchescu, Gh

2012-01-01

Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment

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Zonana, J.; Gault, J.; Jones, M.; Browne, D.; Litt, M. (Oregon Health Sciences Univ., Portland (United States)); Davies, K.J.P.; Clarke, A.; Thomas, N.S.T. (Univ. of Wales, Cardiff (United Kingdom)); Brockdorff, N.; Rastan, S. (Medical Research Council Clinical Research Centre, Harrow (United Kingdom))

1993-01-01

X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS732 locus by hybridization with the mouse genomic probe pcos169E/4. This highly conserved DNA probe is from locus DXCrc169, which is tightly linked to the Ta locus, the putative mouse homologue of EDA. The proband had the classical phenotype of EDA, with no other phenotypic abnormalities, and a normal cytogenetic analysis. A human genomic DNA clone, homologous to pcos169E/4, was isolated from a human X-chromosome cosmid library. On hybridization with the cosmid, the proband was found to be only partially deleted at the DXS732 locus, with a unique junctional fragment identified in the proband and in three of his maternal relatives. This is the first determination of carrier status for EDA in females, by direct mutation analysis. Failure to detect deletion of the other loci tested in the proband suggests that the DXS732 locus is the closest known locus to the EDA gene. Since the DXS732 locus contains a highly conserved sequence, it must be considered to be a candidate locus for the EDA gene itself. 18 refs., 3 figs., 1 tab.

Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia.

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Saltnes, Solfrid Sørgjerd; Jensen, Janicke Liaaen; Sæves, Rønnaug; Nordgarden, Hilde; Geirdal, Amy Østertun

2017-11-01

The aim of this study was to assess demographics, self-reported signs of ectodermal dysplasia (problems with hair, nails, skin and sweat glands), present teeth, previous dental treatment, psychological distress and QoL in individuals with oligodontia, and to explore the associations between these factors. We also aimed to compare the level of psychological distress and QoL between the study group and normative samples. Forty-seven individuals with oligodontia registered at a resource centre in Norway were included in the study. The participants completed self-administered questionnaires on demographics, ED signs, dental treatments, psychological distress and QoL (overall, health-related- and oral health-related QoL). Relevant statistics (independent t-test, correlation analysis and hierarchical multiple regressions) were used. Thirty-five participants reported ED signs. Forty-one participants had tooth replacements (nine had removable dentures). Sixteen had ≤10 present teeth, 13 perceived dry mouth and seven were unemployed. Persons with ≤10 present teeth had higher anxiety- and depression-scores than those having >10 present teeth. Unemployment, dry mouth and removable dentures indicated poor health-related- and oral health related QoL. Compared to a normative sample; the study group had significantly poorer mental health (MH)-related QoL, mean (SD); (51.1(8.2) versus 46.8(9.3), p < .001) and more anxiety, mean (SD); (4.5(3.1) versus 6.7(3.6), p < .001). ED signs and treatments were most important for psychological distress and MH related QoL (MCS), whereas demographic parameters were most important for the other QoL measures. The psychological burden of oligodontia is significant, emphasizing the importance of a holistic approach by caregivers.

Chondroectodermal dysplasia (Ellis van Creveld syndrome: A report of three cases with review of literature

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Kurian K

2007-01-01

Full Text Available Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio′s syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists.

Disease: H00540 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodefici...ency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema A rar...e X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficien

Restoration of Oral Function for Adult Edentulous Patients with Ectodermal Dysplasia: A Prospective Preliminary Clinical Study.

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Wu, Yiqun; Wang, Xu Dong; Wang, Feng; Huang, Wei; Zhang, Zhiyong; Zhang, Zhiyuan; Kaigler, Darnell; Zou, Duohong

2015-10-01

Therapy with zygomatic implants (ZIs) or conventional implants (CIs) has proven to be an effective method to restore oral function for systemically healthy patients. However, it is still a major challenge to fully restore oral function to edentulous adult patients with ectodermal dysplasia (ED). The aim of this study was to determine an effective treatment protocol for restoring oral function using ZIs and CIs to edentulous adult ED patients. Ten edentulous adult ED patients were treated in this study. The treatment protocol involved the following: (1) bone augmentation in the region of the anterior teeth; (2) placement of two ZIs and four CIs in the maxilla, and four CIs in the mandible; (3) fabrication of dental prosthesis; and (4) psychological and oral education. Following treatment of these patients, implant success rates, biological complications, patient satisfaction, and psychological changes were recorded. Although there was evidence of bone graft resorption in the maxilla, bone augmentation of the mandible was successful in all patients. Nine CIs in the maxilla failed and were removed. All ZIs were successful, and the CIs success rates were 77.50% in the maxilla and 100% in the mandible, with a mean of 88.75%. The mean peri-implant bone resorption for the CIs ranged from 1.3 ± 0.4 mm to 1.8 ± 0.6 mm, and four cases exhibited gingival hyperplasia in the maxilla and mandible. One hundred percent of the patients were satisfied with the restoration of their oral function, and >50% of the patients exhibited enhanced self-confidence and self-esteem. This study demonstrates that oral function can be restored in edentulous adult ED patients using a comprehensive and systematic treatment protocol involving psychological and oral education, bone augmentation, implant placement, and denture fabrication. Despite these positive outcomes, bone augmentation remains challenging in the anterior region of the maxilla for edentulous adult ED patients. © 2015

Pili torti and multiple facial milia as an expression of ectodermal dysplasia in monozygotic twins

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Monika Sikorska

2014-03-01

Full Text Available Introduction . Genodermatoses – congenital diseases with diverse clinical presentation – are caused by ectodermal defects. pili torti and milia may be features of these defects. Concomitantly these symptoms are present in rare genodermatoses: Bazex-Dupre-Christol syndrome and Jackson-Lawler syndrome. Objective. Presentation of monozygotic twins with identical hair structure disturbances typical for pili torti and multiple facial milia and review of syndromes and diseases with pili torti and/or milia, with particular reference to Bazex-Dupre-Christol syndrome. Case report . Three-year-old monozygotic twins with identical disturbances of the hair, which was dry, brittle, torn and showed in microscopic examination features typical for pili torti – twisting of the hair shaft by 180 ° . The scalp was overdried and scaly. Numerous milia on the face of both girls appeared at the age of 2 years and were noticed during the examination. The remaining structures derived from the ectoderm were normal. The patients were treated with adapalene cream applied once a day with partial improvement of follicular lesions on the face in both sisters. Conclusions . Coexistence of pili torti and multiple milia in twins indicates the genetic background of these disturbances. Due to potential risk of development of skin carcinoma in future, the patients require close follow-up.

Oral Rehabilitation of Adult Edentulous Siblings Severely Lacking Alveolar Bone Due to Ectodermal Dysplasia: A Report of 2 Clinical Cases and a Literature Review.

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Wu, Yiqun; Zhang, Chenping; Squarize, Cristiane H; Zou, Duohong

2015-09-01

The oral conditions of adult edentulous patients with ectodermal dysplasia (ED) often lead to decreased physical and psychological health, and the negative effects can become as extreme as social and psychological isolation. However, restoring oral function of adult edentulous patients with ED using zygomatic implants (ZIs) or conventional implants (CIs) remains challenging for dentists because of the severe atrophy of these patients' alveolar ridges. This report describes 2 cases of adult edentulous siblings with ED; they exhibited severe alveolar bone atrophy and were treated with ZIs and CIs as bases to augment the bone in their anterior jaws. For these patients, bone augmentation was completed with an autogenous fibular graft. Although there was mild evidence of bone graft resorption in the maxilla, the bone augmentation procedures were successful in the 2 patients. Effective osseointegration of the implants was obtained. After placement, the functional and esthetic results of the oral rehabilitation were acceptable. More importantly, restoration of the patients' oral function enhanced their self-confidence and self-esteem. Therefore, restoring oral function in adult patients with ED and edentulous jaws using ZIs and CIs as the bases for bone augmentation is an effective approach. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis

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Binghui Zeng

2017-10-01

Full Text Available Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED and non-syndromic tooth agenesis (NSTA result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was performed for the proband of NSTA Family 4. Novel mutation c.1051G>T (p.Val351Phe and the known mutation c.467G>A (p.Arg156His of Ectodysplasin A (EDA were identified in families with XLHED. Novel EDA receptor (EDAR mutation c.73C>T (p.Arg25*, known EDA mutation c.491A>C (p.Glu164Ala, and known Wnt family member 10A (WNT10A mutations c.511C>T (p.Arg171Cys and c.742C>T (p.Arg248* were identified in families with NSTA. The novel EDA and EDAR mutations were predicted as being pathogenic through bioinformatics analyses and structural modeling. Two variants of WNT10A, c.374G>A (p.Arg125Lys and c.125A>G (p.Asn42Ser, were found in patients with NSTA. The two WNT10A variants were predicted to affect the splicing of message RNA, but minigene experiments showed normal splicing of mutated minigenes. This study uncovered the genetic foundations with respect to six families with XLHED or NSTA. We identified six mutations, of which two were novel mutations of EDA and EDAR. This is the first report of a nonsense EDAR mutation leading to NSTA.

Development of a complete human anti-human transferrin receptor C antibody as a novel marker of oral dysplasia and oral cancer

International Nuclear Information System (INIS)

Nagai, Kentaro; Nakahata, Shingo; Shimosaki, Shunsuke; Tamura, Tomohiro; Kondo, Yuudai; Baba, Takashi; Taki, Tomohiko; Taniwaki, Masafumi; Kurosawa, Gene; Sudo, Yukio; Okada, Seiji; Sakoda, Sumio; Morishita, Kazuhiro

2014-01-01

Oral squamous cell carcinoma (OSCC) is the sixth most common cancer worldwide. Up to 20% of oral dysplasia cases have been suggested to undergo malignant transformation to OSCC; however, there are no methods to predict OSCC development. In this study, to identify the genes associated with oral dysplasia progression, we performed genomic copy number analyses of genomic DNA samples isolated from primary oral dysplasia and OSCC via the microdissection method and found elevated expression of transferrin receptor C (TfR1/TFRC) with genomic amplification in oral dysplasia and OSCC. The expression rate of TFRC in OSCC was significantly higher than that in dysplasia, suggesting that OSCC disease progression might be related to TFRC expression. Additionally, we investigated the in vitro and in vivo impacts of a newly established anti-human TFRC monoclonal antibody, which was isolated from a human cDNA library using the phage-display method, on cell proliferation and survival. The anti-TFRC antibody blocked the interaction between transferrin and TFRC and consequently inhibited iron uptake, leading to the iron deprivation-mediated suppression of cell growth and induction of apoptosis. Moreover, we demonstrated that the anti-TFRC antibody efficiently inhibited tumor growth in a murine xenograft OSCC model. Therefore, we suggest our developed complete human anti-human TFRC antibody as a useful, novel treatment for oral dysplasia and OSCC

Genetics Home Reference: scalp-ear-nipple syndrome

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... of the tissues that arise from the ectoderm (ectodermal dysplasia) and leads to the signs and symptoms of ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Ectodermal dysplasia Health Topic: Skin Conditions Genetic and Rare Diseases ...

Christ Siemens Touraine syndrome: Two case reports and felicitous approaches to prosthetic management

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Navanith Renahan

2015-01-01

Full Text Available Ectodermal dysplasia is a heterogeneous group of inherited disorders, which exhibit a classic triad of hypohydrosis, hypotrichosis, and hypodontia. Hypohidrotic or anhidrotic ectodermal dysplasia or Christ Siemens Touraine syndrome is the most common condition among ectodermal dysplasia patients. This is a case report on two Christ Siemens Touraine syndrome cases and two different approaches to prosthetic management.

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

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Alves, Leandro Ucela; Pardono, Eliete; Otto, Paulo A.; Mingroni Netto, Regina Célia

2015-01-01

Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and referred to by his daughter, exhibited only the split-hand/foot malformation (SHFM). Our findings contribute to elucidate the complex phenotype-genotype correlations in EEC syndrome and other related TP63-mutation syndromes. The possibility of the mutation c.1037C > G being related both to acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and SHFM is also raised by the findings here reported. PMID:25983622

Cloning of the anhidrotic ectodermal dysplasia gene: Identification of cDNAs associated with CpG islands mapped near translocation breakpoint in two female patients

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Srivastava, A.K.; Schlessinger, D. [Washington Univ. School of Medicine, St. Louis, MO (United States); Kere, J. [Univ. of Helsinki (Finland)] [and others

1994-09-01

The gene for the X chromosomal developmental disorder anhidrotic ectodermal dysplasia (EDA) has been mapped to Xq12-q13 by linkage analysis and is expressed in a few females with chromosomal translocations involving band Xq12-q13. A yeast artificial chromosome (YAC) contig (2.0 Mb) spanning two translocation breakpoints has been assembled by sequence-tagged site (STS)-based chromosomal walking. The two translocation breakpoints (X:autosome translocations from the affected female patients) have been mapped less than 60 kb apart within a YAC contig. Unique probes and intragenic STSs (mapped between the two translocations) have been developed and a somatic cell hybrid carrying the translocated X chromosome from the AK patient has been analyzed by isolating unique probes that span the breakpoint. Several STSs made from intragenic sequences have been found to be conserved in mouse, hamster and monkey, but we have detected no mRNAs in a number of tissues tested. However, a probe and STS developed from the DNA spanning the AK breakpoint is conserved in mouse, hamster and monkey, and we have detected expressed sequences in skin cells and cDNA libraries. In addition, unique sequences have been obtained from two CpG islands in the region that maps proximal to the breakpoints. cDNAs containing these sequences are being studied as candidates for the gene affected in the etiology of EDA.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

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Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

2015-04-01

In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition. © 2015 Wiley Periodicals, Inc.

Pemakaian Gigi Tiruan Sebagian Pada Penderita Ektodermal Displasia dengan Anondonsia Parsial

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Rastia Indriyati

2015-09-01

Full Text Available Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structure and their accessory appendeges. The main feature is hypohidrosis, hypotrichosis and hypodontia. Ectodermal dysplasia appear to be ingeritaed as an x-linked recessive trait. Common manifestations include frontal bossing with prominent supraorbital ridges, nasal bridge depression, protuberant lips and defective hair follicles and eyebrows. Intraorally, common findings are hypodontia or anodontia and conical teeth. The treatment is to improve the appearance and oral function included a removable prosthesis. A 5-year-old and 9-year-old male in the same family, described in the case report of ectodermal dysplasia with removable partial dentures

A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia.

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Zou, Duohong; Wu, Yiqun; Wang, Xu Dong; Huang, Wei; Zhang, Zhiyong; Zhang, Zhiyuan

2014-10-01

The aim of this study was to evaluate oral function rehabilitation in patients with hypohidrotic ectodermal dysplasia (HED) using implant-supported prostheses based on bone augmentation. From September 2005 and March 2009, 25 HED patients were chosen for clinical data analysis in this study. The criteria for patient selection included the following: the display of clinical features of HED, the number of congenitally missing teeth (>5), the patient age (>16 years), the patient's willingness, and the patient's tolerance for bone graft surgery and implant placement. Follow-up evaluations were initiated from the time of implant prosthetic placement and scheduled annually for 3-5 years. The effects of oral function reconstruction were assessed based on the cumulative survival and success rates of implants, the health of the peri-implant area, and the degree of patient satisfaction. Twenty-five HED patients received 169 conventional implants and 10 zygomatic implants (179 total implants). During 3-5 years of post-loading evaluations, 5 of the 179 implants failed and 3 implants were removed. The 3-year success and cumulative survival rates were 97.2% and 98.3%, respectively. Furthermore, periodontal probing and radiographic assessments showed that the 3-year incidence of peri-implantitis was 4.5%. Finally, HED patients expressed high degrees of satisfaction with their facial contours, masticatory function, pronunciation ability, and comfort with the implant-supported prostheses. The results of this 3- to 5-year retrospective study indicate that the oral function of HED patients can be effectively reconstructed using bone augmentation and implant-supported prostheses; however, longer term results are warranted in the future.

First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.

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Wu, Tonghua; Yin, Biao; Zhu, Yuanchang; Li, Guangui; Ye, Lijun; Liang, Desheng; Zeng, Yong

2017-12-01

To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD. NGS data of the proband sample revealed that the size of the possible inverted fragment was over 42Mb, spanning from position 26, 814, 206 to position 69, 231, 915 on the X chromosome. The breakpoints were confirmed by Sanger sequencing. A total of 5 blastocyst embryos underwent trophectoderm biopsy. Two embryos were diagnosed as carriers and three were unaffected. Two unaffected blastocysts were transferred and a singleton pregnancy was achieved. Following confirmation by prenatal diagnosis, a healthy baby was delivered. This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD. Copyright © 2017. Published by Elsevier B.V.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

NARCIS (Netherlands)

McGrath, J.A.; Duijf, P.H.; Doetsch, V.; Irvine, A.D.; Waal, R.M.W. de; Vanmolkot, K.R.; Wessagowit, V.; Kelly, A.E.; Atherton, D.J.; Griffiths, W.A.; Orlow, S.J.; Haeringen, A. van; Ausems, M.G.E.M.; Yang, A.; McKeon, F.; Bamshad, M.; Brunner, H.G.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van

2001-01-01

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

NARCIS (Netherlands)

McGrath, JA; Duijf, PHG; Doetsch, [No Value; Irvine, AD; de Waal, R; Vanmolkot, KRJ; Wessagowit, [No Value; Kelly, A; Atherton, DJ; Griffiths, WAD; Orlow, SJ; van Haeringen, A; Ausems, MGEM; Yang, A; McKeon, F; Bamshad, MA; Brunner, HG; Hamel, BCJ; van Bokhoven, H

2001-01-01

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip

Genetics Home Reference: adermatoglyphia

Science.gov (United States)

... a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/ ... and Advocacy Resources (2 links) National Foundation for Ectodermal Dysplasias Resource List from the University of Kansas Medical ...

Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).

Science.gov (United States)

Haverkamp, Margje H; Marciano, Beatriz E; Frucht, David M; Jain, Ashish; van de Vosse, Esther; Holland, Steven M

2014-05-01

Patients with hypomorphic mutations in Nuclear Factor-κB Essential Modulator (NEMO) are immunodeficient (ID) and most display ectodermal dysplasia and anhidrosis (EDA). We compared cytokine production by NEMO-ID patients with and without EDA. PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. The production of various cytokines was measured in the supernatants. Fifty-nine healthy individuals served as controls. PBMCs of NEMO-ID patients without EDA produce subnormal amounts of IFN-γ after stimulation with PHA, but normal amounts of IFN-γ after PHA plus IL-12p70. In contrast, IFN-γ production by patients with EDA was low in both cases. Patients with EDA also generate lower PHA-stimulated IL-10 and IL-1β than controls, whereas the production of these cytokines by patients without EDA was normal. Responses of PBMCs in NEMO-ID patients with EDA to PHA with and without IL-12p70 appear less robust than in NEMO-ID patients without EDA. This possibly indicates a better preserved NEMO function in our patients without EDA.

Despite the hair failing, nails thrive…

Directory of Open Access Journals (Sweden)

Samipa Samir Mukherjee

2017-01-01

Full Text Available Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth. Pure hair and nail affecting ectodemal dysplasias are exceedingly rare in occurance and have been known to be associated with multiple abnormalities, such as keratoderma or ichthyosis, skeletal and hematological abnormalities, cardiac irregularities, mental or psychomotor retardation and cataracts. We herein report a case of hypotrichosis with trichorrhexis nodosa and twenty nail dystrophy- a hypohidrotic ectodermal dysplasia variant.

Genetics Home Reference: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis

Science.gov (United States)

... reticularis ( NFJS/DPR ) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by ... Related Skin Types (FIRST): Palmoplantar Keratodermas MedlinePlus Encyclopedia: Ectodermal Dysplasia MedlinePlus Encyclopedia: Nail Abnormalities General Information from MedlinePlus ( ...

Deletion of OTX2 in neural ectoderm delays anterior pituitary development

Science.gov (United States)

Mortensen, Amanda H.; Schade, Vanessa; Lamonerie, Thomas; Camper, Sally A.

2015-01-01

OTX2 is a homeodomain transcription factor that is necessary for normal head development in mouse and man. Heterozygosity for loss-of-function alleles causes an incompletely penetrant, haploinsufficiency disorder. Affected individuals exhibit a spectrum of features that range from developmental defects in eye and/or pituitary development to acephaly. To investigate the mechanism underlying the pituitary defects, we used different cre lines to inactivate Otx2 in early head development and in the prospective anterior and posterior lobes. Mice homozygous for Otx2 deficiency in early head development and pituitary oral ectoderm exhibit craniofacial defects and pituitary gland dysmorphology, but normal pituitary cell specification. The morphological defects mimic those observed in humans and mice with OTX2 heterozygous mutations. Mice homozygous for Otx2 deficiency in the pituitary neural ectoderm exhibited altered patterning of gene expression and ablation of FGF signaling. The posterior pituitary lobe and stalk, which normally arise from neural ectoderm, were extremely hypoplastic. Otx2 expression was intact in Rathke's pouch, the precursor to the anterior lobe, but the anterior lobe was hypoplastic. The lack of FGF signaling from the neural ectoderm was sufficient to impair anterior lobe growth, but not the differentiation of hormone-producing cells. This study demonstrates that Otx2 expression in the neural ectoderm is important intrinsically for the development of the posterior lobe and pituitary stalk, and it has significant extrinsic effects on anterior pituitary growth. Otx2 expression early in head development is important for establishing normal craniofacial features including development of the brain, eyes and pituitary gland. PMID:25315894

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Science.gov (United States)

Nawaz, Sadia; Klar, Joakim; Wajid, Muhammad; Aslam, Muhammad; Tariq, Muhammad; Schuster, Jens; Baig, Shahid Mahmood; Dahl, Niklas

2009-12-01

Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome characterised by severe hypodontia, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles. We identified a large consanguineous Pakistani pedigree comprising six individuals affected by a complete OODD syndrome. Autozygosity mapping using SNP array analysis showed that the affected individuals are homozygous for the WNT10A gene region. Subsequent mutation screening showed a homozygous c.392C>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features.

Subtotal amelia in a child with autosomal recessive hypohidrotic ...

African Journals Online (AJOL)

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of ...

Genetics Home Reference: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Science.gov (United States)

... Facebook Twitter Home Health Conditions APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Printable PDF Open All Close All ... view the expand/collapse boxes. Description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ( APECED ) is an inherited condition that ...

La dysplasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun

Directory of Open Access Journals (Sweden)

Chelo David

2010-03-01

Full Text Available Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic abnormalities of the teeth and a feeling of exaggerated heat. The diagnosis of anhidrotic ectodermal dysplasia was discussed. The absence of sweat glands on the skin biopsy slides was in favor of the diagnosis. Dental prostheses were put in place which the aim of permitting the child to eat normally and have a better self image.

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

Directory of Open Access Journals (Sweden)

Sepideh Mokhtari

2012-01-01

Full Text Available Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

International Nuclear Information System (INIS)

Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

2003-01-01

A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)

Disease: H00107 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available lasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Wiskott-Aldrich syndrome (WAS...thy and X-linked (IPEX) syndrome and autoimmune polyendocrinopathy, candidiasis, ectodermal dysplasia (APECE

Valutazione dello spostamento tridimensionale degli impianti in giovani pazienti affetti da EDs riabilitati con overdenture implanto-supportati

OpenAIRE

Battelli, Filippo

2013-01-01

Ectodermal Dysplasias syndrome (EDs) are a heterogeneous group of inherited disorders characterized by dysplasia of tissues of ectodermal origin. Complete or partial anodontia are the most frequent dental findings. Prosthetic rehabilitation is recommended from functional, esthetic, and psychological points of view. Because of the anatomical abnormalities of existing teeth and alveolar ridges, conventional prosthetic rehabilitation in young patient is often difficult. Five growing patients (ag...

Science.gov (United States)

Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W.; Schneider, Holm

2017-01-01

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty

Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

Science.gov (United States)

Fete, Mary; vanBokhoven, Hans; Clements, Suzanne; McKeon, Frank; Roop, Dennis R.; Koster, Maranke I.; Missero, Caterina; Attardi, Laura D.; Lombillo, Vivian A.; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F.

2009-01-01

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in p63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present eleven manuscripts within this special section that outline the collective clinical, pathologic and mutational data from eighteen individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping stone to future translational projects of p63 and p63-related syndromes. PMID:19353643

Hip dysplasia and congenital hip dislocation

Energy Technology Data Exchange (ETDEWEB)

Lingg, G.; Nebel, G.; von Torklus, D.

1981-11-01

In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

LENUS (Irish Health Repository)

Fitzgerald, K

2012-02-01

BACKGROUND: Anomalies of dental anatomy are common in the ectodermal dysplasia syndromes. These anomalies, when found in combination with dental caries, can pose a restorative challenge for the paediatric dentist. Modification of traditional techniques and approaches may help the practitioner provide a successful treatment outcome. CASE REPORT: A 3 years and 11 months old girl with a diagnosis of ankyloblepharon-ectodermal dysplasiacleft lip\\/palate (AEC) syndrome was referred for treatment to a specialist paediatric dental service. Her abnormal dental anatomy, hypodontia and dental caries formed a triad of challenges for the team. Under general anaesthesia, her dentition was restored using a combination of restorative approaches and techniques, including the placement of both composite resin and preformed metal crown restorations. FOLLOW-UP: At 18-month followup, the family had successfully implemented good home care and dietary practices, and the local dental service had instituted a preventive programme consisting of regular examination, advice and fluoride varnish placement. The restorations remained intact and no further caries was detected. At 24-month follow-up, the first permanent molars were partially erupted, and displayed unusually deep fissures. There was also a degree of ectopic eruption of the first permanent molars, and possibly of one of the maxillary permanent incisors. CONCLUSION: Dental care for children with AEC syndrome is optimised by early intervention, good home care and regular professional review. Dental care providers should be aware of the possibility of complex dental anatomy, and bear this in mind should it become necessary to formulate a restorative treatment plan.

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

Energy Technology Data Exchange (ETDEWEB)

Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

2003-04-01

Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)

Expanding the phenome and variome of skeletal dysplasia.

Science.gov (United States)

Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

2018-04-05

PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

Bizarre cell dysplasia of the cervix.

Science.gov (United States)

Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

2017-02-01

The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.

Asphyxiating thoracic dysplasia

International Nuclear Information System (INIS)

Franzcr, J.; Kozlowski, K.

2008-01-01

Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)

Claudin-1 is a p63 target gene with a crucial role in epithelial development.

Directory of Open Access Journals (Sweden)

Teresa Lopardo

2008-07-01

Full Text Available The epidermis of the skin is a self-renewing, stratified epithelium that functions as the interface between the human body and the outer environment, and acts as a barrier to water loss. Components of intercellular junctions, such as Claudins, are critical to maintain tissue integrity and water retention. p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in human hereditary syndromes characterized by ectodermal dysplasia. Both p63 and Claudin-1 null mice die within few hours from birth due to dehydration from severe skin abnormalities. These observations suggested the possibility that these two genes might be linked in one regulatory pathway with p63 possibly regulating Claudin-1 expression. Here we show that silencing of DeltaNp63 in primary mouse keratinocytes results in a marked down-regulation of Claudin-1 expression (-80%. DeltaNp63alpha binds in vivo to the Claudin-1 promoter and activates both the endogenous Claudin-1 gene and a reporter vector containing a -1.4 Kb promoter fragment of the Claudin-1 gene. Accordingly, Claudin-1 expression was absent in the skin of E15.5 p63 null mice and natural p63 mutant proteins, specifically those found in Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC patients, were indeed altered in their capacity to regulate Claudin-1 transcription. This correlates with deficient Claudin-1 expression in the epidermis of an AEC patient carrying the I537T p63 mutation. Notably, AEC patients display skin fragility similar to what observed in the epidermis of Claudin-1 and p63 null mice. These findings reinforce the hypothesis that these two genes might be linked in a common regulatory pathway and that Claudin-1 may is an important p63 target gene involved in the pathogenesis of ectodermal dysplasias.

Cloverleaf skull with generalised bone dysplasia

International Nuclear Information System (INIS)

Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

1985-01-01

A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)

Cloverleaf skull with generalised bone dysplasia

Energy Technology Data Exchange (ETDEWEB)

Kozlowski, K.; Warren, P.S.; Fisher, C.C.

1985-09-01

A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Science.gov (United States)

Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

2011-11-01

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. Copyright © 2011 Wiley Periodicals, Inc.

Spondyloepiphyseal dysplasia congenita

International Nuclear Information System (INIS)

Macpherson, R.I.; Wood, B.P.

1980-01-01

Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

Ectodermal Differentiation of Wharton's Jelly Mesenchymal Stem Cells for Tissue Engineering and Regenerative Medicine Applications.

Science.gov (United States)

Jadalannagari, Sushma; Aljitawi, Omar S

2015-06-01

Mesenchymal stem cells (MSCs) from Wharton's jelly (WJ) of the human umbilical cord are perinatal stem cells that have self-renewal ability, extended proliferation potential, immunosuppressive properties, and are accordingly excellent candidates for tissue engineering. These MSCs are unique, easily accessible, and a noncontroversial cell source of regeneration in medicine. Wharton's jelly mesenchymal stem cells (WJMSCs) are multipotent and capable of multilineage differentiation into cells like adipocytes, bone, cartilage, and skeletal muscle upon exposure to appropriate conditions. The ectoderm is one of the three primary germ layers found in the very early embryo that differentiates into the epidermis, nervous system (spine, peripheral nerves, brain), and exocrine glands (mammary, sweat, salivary, and lacrimal glands). Accumulating evidence shows that MSCs obtained from WJ have an ectodermal differentiation potential. The current review examines this differentiation potential of WJMSC into the hair follicle, skin, neurons, and sweat glands along with discussing the potential utilization of such differentiation in regenerative medicine.

Occipital dysplasia and associated cranial spinal cord abnormalities in two dogs

International Nuclear Information System (INIS)

Bagley, R.S.; Harrington, M.L.; Tucker, R.L.; Sande, R.D.; Root, C.R.; Kramer, R.W.

1996-01-01

Occipital dysplasia was found in association with cervical spinal cord abnormalities in two dogs. One dog presented for tetraparesis and cervical hyperesthesia, the other for historical cervical hyperesthesia and mild paraparesis. In dog 1, a midline cervical spinal cord defect consistent with a communicating syrinx was found. In the other dog, a presumptive syringo/hydromyelia of the cervical spinal cord was found on magnetic resonance imaging. While occipital dysplasia alone is not thought to cause any clinical abnormalities, the dogs of this report suggest that intramedullary central nervous system abnormalities may be present concurrently with occipital dysplasia and should be considered as a possible cause of the clinical signs. The relationship between occipital dysplasia and syringo/hydromyelia in these dogs remains unclear, however, similar associated abnormalities are occasionally found in humans with Chiari malformation

Genetics Home Reference: boomerang dysplasia

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... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

Metaphyseal chondrodysplasia with ectodermal dysplasia

Energy Technology Data Exchange (ETDEWEB)

Jequier, S.; Bellini, F.; Mackenzie, D.A.

1981-11-01

The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete alopecia was described in 1966 by Bellini. A second identical case was found in another Italian patient. Both show extremely early epiphyseal fusion. This is probably a new form of metaphyseal chondrodysplasia.

Metaphyseal chondrodysplasia with ectodermal dysplasia

International Nuclear Information System (INIS)

Jequier, S.; Bellini, F.

1981-01-01

The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete alopecia was described in 1966 by Bellini. A second identical case was found in another Italian patient. Both show extremely early epiphyseal fusion. This is probably a new form of metaphyseal chondrodysplasia. (orig.)

Progressive pseudorheumatoid dysplasia misdiagnosed as ...

African Journals Online (AJOL)

Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...

Prenatal diagnosis of boomerang dysplasia.

Science.gov (United States)

Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

2003-10-01

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

Complex orthopaedic management of patients with skeletal dysplasias

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A. G. Baindurashvili

2014-01-01

Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

Expression of human telomerase reverse transcriptase protein in oral epithelial dysplasia and oral squamous cell carcinoma: An immunohistochemical study

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Raghunandan, Bangalore Nagarajachar; Sanjai, Karpagaselvi; Kumaraswamy, Jayalakshmi; Papaiah, Lokesh; Pandey, Bhavna; Jyothi, Bellur MadhavaRao

2016-01-01

Background: Telomerase is an RNA-dependent DNA polymerase that synthesizes TTAGGG telomeric DNA sequences and almost universally provides the molecular basis for unlimited proliferative potential. The telomeres become shorter with each cycle of replication and reach a critical limit; most cells die or enter stage of replicative senescence. Telomere length maintenance by telomerase is required for all the cells that exhibit limitless replicative potential. It has been postulated that reactivation of telomerase expression is necessary for the continuous proliferation of neoplastic cells to attain immortality. Use of immunohistochemistry (IHC) is a useful, reliable method of localizing the human telomerase reverse transcriptase (hTERT) protein in tissue sections which permits cellular localization. Although there exists a lot of information on telomerase in oral cancer, little is known about their expression in oral epithelial dysplasia and their progression to oral squamous cell carcinoma (OSCC) compared to normal oral mucosa. This study addresses this lacuna. Aims: To compare the expression of hTERT protein in oral epithelial dysplasia and OSCC with normal oral mucosa by Immunohistochemical method. Subjects and Methods: In this preliminary study, IHC was used to detect the expression of hTERT protein in OSCC (n = 20), oral epithelial dysplasia (n = 21) and normal oral mucosa (n = 10). The tissue localization of immunostain, cellular localization of immunostain, nature of stain, intensity of stain, percentage of cells stained with hTERT protein were studied. A total number of 100 cells were counted in each slide. Statistical Analysis: All the data were analyzed using SPSS software version 16.0. The tissue localization, cellular localization of cytoplasmic/nuclear/both of hTERT stain, staining intensity was compared across the groups using Pearson's Chi-square test. The mean percentage of cells stained for oral epithelial dysplasia, OSCC and normal oral mucosa were

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

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Groza Tudor

2012-03-01

Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

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Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

2013-01-01

The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.

Mutations in FLNB cause boomerang dysplasia.

Science.gov (United States)

Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

2005-07-01

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

TREATMENT OF HIP DYSPLASIA

OpenAIRE

Iulian ICLEANU; Mariana CORDUN

2015-01-01

In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (g...

Spondylometaphyseal dysplasia with hypercalcemia

International Nuclear Information System (INIS)

Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

1989-01-01

Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.)

Delayed ossification of the femoral head in dogs with hip dysplasia

International Nuclear Information System (INIS)

Madsen, J.S.; Reimann, I.; Svalastoga, E.

1991-01-01

In humans, delayed ossification of the caput femoris is often seen associated with hip dysplasia in babies. This phenomenon may possibly exist in dogs. In this study, the radiographic appearance of the caput femoris of 13 German shepherd dogs was examined. The dogs underwent pelvic radiography at the age of 14 to 15 days, six weeks, and 12 months. A significant relationship was shown between hip dysplasia and the late appearance of the epiphysis of the caput femoris (P=0–02). At the age of 14 to 15 days it was not possible to see both epiphyses in 54 per cent of the dogs. All of these dogs had hip dysplasia when they were 12 months old. This was in contrast to the six dogs which had both epiphyses visible when they were 14 to 15 days old. At 12 months of age, four of these dogs (67 per cent) did not show any sign of hip dysplasia

Sponastrime dysplasia

International Nuclear Information System (INIS)

Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

1989-01-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)

Mandibulo-acral dysplasia

Energy Technology Data Exchange (ETDEWEB)

Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

2000-11-01

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)

Focal cortical dysplasia – review

International Nuclear Information System (INIS)

Kabat, Joanna; Król, Przemysław

2012-01-01

Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both

Genetics Home Reference: osteoglophonic dysplasia

Science.gov (United States)

... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

Ellis–Van Creveld syndrome in siblings: A rare case report

Directory of Open Access Journals (Sweden)

Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

A symphony of regulations centered on p63 to control development of ectoderm-derived structures.

Science.gov (United States)

Guerrini, Luisa; Costanzo, Antonio; Merlo, Giorgio R

2011-01-01

The p53-related transcription factor p63 is critically important for basic cellular functions during development of the ectoderm and derived structure and tissues, including skin, limb, palate, and hair. On the one side, p63 is required to sustain the proliferation of keratinocyte progenitors, while on the other side it is required for cell stratification, commitment to differentiate, cell adhesion, and epithelial-mesenchymal signaling. Molecules that are components or regulators of the p63 pathway(s) are rapidly being identified, and it comes with no surprise that alterations in the p63 pathway lead to congenital conditions in which the skin and other ectoderm-derived structures are affected. In this paper, we summarize the current knowledge of the molecular and cellular regulations centered on p63, derived from the comprehension of p63-linked human diseases and the corresponding animal models, as well as from cellular models and high-throughput molecular approaches. We point out common themes and features, that allow to speculate on the possible role of p63 downstream events and their potential exploitation in future attempts to correct the congenital defect in preclinical studies.

Oral epithelial dysplasia classification systems

DEFF Research Database (Denmark)

Warnakulasuriya, S; Reibel, J; Bouquot, J

2008-01-01

At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

Directory of Open Access Journals (Sweden)

Cybel Mehawej

2014-05-01

Full Text Available Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mitochondria-associated granulocyte macrophage colony stimulating factor-signaling gene (MAGMAS in a novel and severe spondylodysplastic dysplasia. MAGMAS, also referred to as PAM16 (presequence translocase-associated motor 16, is a mitochondria-associated protein involved in preprotein translocation into the matrix. We show that MAGMAS is specifically expressed in trabecular bone and cartilage at early developmental stages and that the mutation leads to an instability of the protein. We further demonstrate that the mutation described here confers to yeast strains a temperature-sensitive phenotype, impairs the import of mitochondrial matrix pre-proteins and induces cell death. The finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process.

Bone scintigraphy in polyostotic fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

1998-03-01

Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

Patients with newly diagnosed cervical cancer should be screened for anal human papilloma virus and anal dysplasia: Results of a pilot study using a STELLA computer simulation and economic model

OpenAIRE

Eli D. Ehrenpreis; Dylan G. Smith

2018-01-01

Background: Women with cervical cancer often have anal human papillomavirus (HPV) infection and anal dysplasia. However, effectiveness of anal HPV screening is unknown. Methods: A dynamic model was constructed using STELLA. Populations are represented as ''stocks'' that change according to model rates. Initial anal cytology in new cervical cancer patients, dysplasia progression and regression, cost of treating high-grade squamous intraepithelial lesions (HSIL), and lifetime costs for anal can...

Ellis Von Creveld Syndrome

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Afshar H

1999-01-01

Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

Jansen type of spondylometaphyseal dysplasia

International Nuclear Information System (INIS)

Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

2000-01-01

Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)

Genetics Home Reference: thanatophoric dysplasia

Science.gov (United States)

... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

Gracile bone dysplasias

International Nuclear Information System (INIS)

Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

2002-01-01

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

Gracile bone dysplasias

Energy Technology Data Exchange (ETDEWEB)

Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

2002-09-01

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

The evolutionary history of vertebrate cranial placodes II. Evolution of ectodermal patterning.

Science.gov (United States)

Schlosser, Gerhard; Patthey, Cedric; Shimeld, Sebastian M

2014-05-01

Cranial placodes are evolutionary innovations of vertebrates. However, they most likely evolved by redeployment, rewiring and diversification of preexisting cell types and patterning mechanisms. In the second part of this review we compare vertebrates with other animal groups to elucidate the evolutionary history of ectodermal patterning. We show that several transcription factors have ancient bilaterian roles in dorsoventral and anteroposterior regionalisation of the ectoderm. Evidence from amphioxus suggests that ancestral chordates then concentrated neurosecretory cells in the anteriormost non-neural ectoderm. This anterior proto-placodal domain subsequently gave rise to the oral siphon primordia in tunicates (with neurosecretory cells being lost) and anterior (adenohypophyseal, olfactory, and lens) placodes of vertebrates. Likewise, tunicate atrial siphon primordia and posterior (otic, lateral line, and epibranchial) placodes of vertebrates probably evolved from a posterior proto-placodal region in the tunicate-vertebrate ancestor. Since both siphon primordia in tunicates give rise to sparse populations of sensory cells, both proto-placodal domains probably also gave rise to some sensory receptors in the tunicate-vertebrate ancestor. However, proper cranial placodes, which give rise to high density arrays of specialised sensory receptors and neurons, evolved from these domains only in the vertebrate lineage. We propose that this may have involved rewiring of the regulatory network upstream and downstream of Six1/2 and Six4/5 transcription factors and their Eya family cofactors. These proteins, which play ancient roles in neuronal differentiation were first recruited to the dorsal non-neural ectoderm in the tunicate-vertebrate ancestor but subsequently probably acquired new target genes in the vertebrate lineage, allowing them to adopt new functions in regulating proliferation and patterning of neuronal progenitors. Copyright © 2014 Elsevier Inc. All rights

Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

Directory of Open Access Journals (Sweden)

Vinay Shanker

2013-01-01

Full Text Available Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. There was no evidence of involvement of other ectodermally derived organ.

Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

Science.gov (United States)

Shanker, Vinay; Gupta, Mudita

2013-01-01

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. There was no evidence of involvement of other ectodermally derived organ. PMID:23440032

DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

Science.gov (United States)

Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

2003-01-01

Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasia → dysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

Genetics Home Reference: hypohidrotic ectodermal dysplasia

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... EDARADD gene. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD ...

Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

Science.gov (United States)

Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

2005-12-01

In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

Expansive focal cemento-osseous dysplasia.

Science.gov (United States)

Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

2012-01-01

To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

TREATMENT OF HIP DYSPLASIA

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Iulian ICLEANU

2015-11-01

Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.

[Ectodermal Capdepont syndrome and oral prosthetic rehabilitation. About a clinical case].

Science.gov (United States)

Kumpanya, P; Matshumba, M; Sekele, I B; Mayunga, M; Lutula, P S; Ntumba, M K

2015-03-01

The authors describe the ectodermal Capdepont syndrome as an anomaly characterized by anhidrosis, hypotrichosis and anodontia diagnosed in a 22 year-old adult. In front of this anodontia, oral prosthetic rehabilitation remains the only solution.

Artificial intelligence estimates the impact of human papillomavirus types in influencing the risk of cervical dysplasia recurrence: progress toward a more personalized approach.

Science.gov (United States)

Bogani, Giorgio; Ditto, Antonino; Martinelli, Fabio; Signorelli, Mauro; Chiappa, Valentina; Leone Roberti Maggiore, Umberto; Taverna, Francesca; Lombardo, Claudia; Borghi, Chiara; Scaffa, Cono; Lorusso, Domenica; Raspagliesi, Francesco

2018-01-22

The objective of this study was to determine whether the pretreatment human papillomavirus (HPV) genotype might predict the risk of cervical dysplasia persistence/recurrence. Retrospective analysis of prospectively collected data of consecutive 5104 women who underwent the HPV-DNA test were matched with retrospective data of women undergoing either follow-up or medical/surgical treatment(s) for genital HPV-related infection(s). Artificial neuronal network (ANN) analysis was used in order to weight the importance of different HPV genotypes in predicting cervical dysplasia persistence/recurrence. ANN simulates a biological neuronal system from both the structural and functional points of view: like neurons, ANN acquires knowledge through a learning-phase process and allows weighting the importance of covariates, thus establishing how much a variable influences a multifactor phenomenon. Overall, 5104 women were tested for HPV. Among them, 1273 (25%) patients underwent treatment for HPV-related disorders. LASER conization and cervical vaporization were performed in 807 (59%) and 386 (30%) patients, respectively, and secondary cervical conization in 45 (5.5%). ANN technology showed that the most important genotypes predicting cervical dysplasia persistence/recurrence were HPV-16 (normalized importance: 100%), HPV-59 (normalized importance: 51.2%), HPV-52 (normalized importance: 47.7%), HPV-18 (normalized importance: 32.8%) and HPV-45 (normalized importance: 30.2%). The pretreatment diagnosis of all of those genotypes, except HPV-45, correlated with an increased risk of cervical dysplasia persistence/recurrence; the pretreatment diagnosis was also arrived at using standard univariate and multivariable models (P<0.01). Pretreatment positivity for HPV-16, HPV-18, HPV-52 and HPV-59 might correlate with an increased risk of cervical dysplasia persistence/recurrence after treatment. These data might be helpful during patients' counseling and to implement new vaccination

Pelvic radiograph in skeletal dysplasias: An approach

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Manisha Jana

2017-01-01

Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

Effect of prenatal phenytion exposure on the apical ectodermal ridges of chick wing buds

International Nuclear Information System (INIS)

Afzal, F.; Raza, S.; Shafique, M.

2017-01-01

Objective: To observe the effect of sodium phenytoin on the development of the apical ectodermal ridges (AER) in chick wing buds. Study Design: Laboratory based case-control study. Place and Duration of Study: This study was carried out at the Department of Anatomy located at the Regional Center of College of Physicians and Surgeons Islamabad Pakistan, from Jan 2014 to Jan 2015. Material and Methods: Sixty fertilized chicken eggs of 'Egyptian fayoumi' breed were selected and divided into two subgroups, experimental and control, each having 30 eggs. A single dose of 3.5 mg sodium phenytoin was injected in each egg of the experimental subgroup while controls were administered same volume of normal saline. The embryos were extracted 96 hours (day 4) after incubation. Histological sections were cut at 5 micro m thickness and stained with Feulgen Nuclear and Light Green to measure the maximum thickness of the apical ectodermal ridges. The number of cells and mitoses in each ridges were also counted. SPSS 16 was used for statistical analysis. Results: There was no significant difference between experimental and control subgroups regarding the maximum thickness and number of cells in the apical ectodermal ridge but there was a statistically significant reduction in the number of mitoses in the experimental ridges. Conclusion: The study shows that sodium phenytoin exerts an inhibitory effect on the apical ectodermal ridges of developing limbs evident by the decreased number of mitoses in the AER of wing buds of experimental chick embryos making it a potential target site for limb teratogenicity associated with its maternal intake during pregnancy. (author)

Ellis-van Creveld

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Dhandabani Jayaraj

2012-01-01

Full Text Available Ellis-van Creveld (EVC syndrome is an autosomal recessive disorder that is also known as chondro-ectodermal dysplasia. The common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. The present case report is about an 8-year-old boy who had the features of bilateral hexadactyly, knocked knees, cardiac problems, congenital absence of incisors, fused upper and lower labial frenulum, and mulberry molars.

Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

NARCIS (Netherlands)

Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84

Meyer's dysplasia epiphysealis

International Nuclear Information System (INIS)

Toro P, Alvaro de Jesus; Lopez C, Meisser A

2005-01-01

The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men.

Energy Technology Data Exchange (ETDEWEB)

Lehman, J M [University of Alabama, Birmingham; Michaud III, Edward J [ORNL; Schoeb, T [University of Alabama, Birmingham; Aydin Son, Yesim [University of Tennessee, Knoxville (UTK); Miller, M [University of Alabama, Birmingham; Yoder, Bradley [University of Alabama, Birmingham

2008-08-01

The Oak Ridge Polycystic Kidney (ORPK) mouse was described nearly 14 years ago as a model for human recessive polycystic kidney disease. The ORPK mouse arose through integration of a transgene into an intron of the Ift88 gene resulting in a hypomorphic allele (Ift88Tg737Rpw). The Ift88Tg737Rpw mutation impairs intraflagellar transport (IFT), a process required for assembly of motile and immotile cilia. Historically, the primary immotile cilium was thought to have minimal importance for human health; however, a rapidly expanding number of human disorders have now been attributed to ciliary defects. Importantly, many of these phenotypes are present and can be analyzed using the ORPK mouse. In this review, we highlight the research conducted using the OPRK mouse and the phenotypes shared with human cilia disorders. Furthermore, we describe an additional follicular dysplasia phenotype in the ORPK mouse, which alongside the ectodermal dysplasias seen in human Ellis-van Creveld and Sensenbrenner's syndromes, suggests an unappreciated role for primary cilia in the skin and hair follicle.

Joint space width in dysplasia of the hip

DEFF Research Database (Denmark)

Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

2005-01-01

In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip...

US of the hips in skeletal dysplasias and chromosomal aberrations

International Nuclear Information System (INIS)

Langer, R.; Langer, M.F.J.; Zwicker, C.

1987-01-01

Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography

Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

Energy Technology Data Exchange (ETDEWEB)

Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

1989-08-01

Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).

Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

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Katarzyna A. Piróg

2010-01-01

Full Text Available Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.

Molecular and Therapeutic Characterization of Anti-ectodysplasin A Receptor (EDAR) Agonist Monoclonal Antibodies*

Science.gov (United States)

Kowalczyk, Christine; Dunkel, Nathalie; Willen, Laure; Casal, Margret L.; Mauldin, Elizabeth A.; Gaide, Olivier; Tardivel, Aubry; Badic, Giovanna; Etter, Anne-Lise; Favre, Manuel; Jefferson, Douglas M.; Headon, Denis J.; Demotz, Stéphane; Schneider, Pascal

2011-01-01

The TNF family ligand ectodysplasin A (EDA) and its receptor EDAR are required for proper development of skin appendages such as hair, teeth, and eccrine sweat glands. Loss of function mutations in the Eda gene cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition that can be ameliorated in mice and dogs by timely administration of recombinant EDA. In this study, several agonist anti-EDAR monoclonal antibodies were generated that cross-react with the extracellular domains of human, dog, rat, mouse, and chicken EDAR. Their half-life in adult mice was about 11 days. They induced tail hair and sweat gland formation when administered to newborn EDA-deficient Tabby mice, with an EC50 of 0.1 to 0.7 mg/kg. Divalency was necessary and sufficient for this therapeutic activity. Only some antibodies were also agonists in an in vitro surrogate activity assay based on the activation of the apoptotic Fas pathway. Activity in this assay correlated with small dissociation constants. When administered in utero in mice or at birth in dogs, agonist antibodies reverted several ectodermal dysplasia features, including tooth morphology. These antibodies are therefore predicted to efficiently trigger EDAR signaling in many vertebrate species and will be particularly suited for long term treatments. PMID:21730053

A case report of the fibrous dysplasia

International Nuclear Information System (INIS)

You, Dong Soo

1975-01-01

The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

Congenital distal humeral dysplasia: a case report

International Nuclear Information System (INIS)

Joseph, Benjamin; Varghese, Renjit A.

2003-01-01

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

A case report of the fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

1975-11-15

The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

CT Imaging of Craniofacial Fibrous Dysplasia

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Zerrin Unal Erzurumlu

2015-01-01

Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.

Cleidocranial Dysplasia: Report of Two Cases

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Avinash Kshar

2010-01-01

Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.

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Esther R Berko

Full Text Available DNA mutational events are increasingly being identified in autism spectrum disorder (ASD, but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a possible mediator of environmental effects during development, encoding a cellular memory reflected by altered function of progeny cells. Advanced maternal age (AMA is associated with an increased risk of having a child with ASD for reasons that are not understood. To explore whether AMA involves covert aneuploidy or epigenetic dysregulation leading to ASD in the offspring, we tested a homogeneous ectodermal cell type from 47 individuals with ASD compared with 48 typically developing (TD controls born to mothers of ≥35 years, using a quantitative genome-wide DNA methylation assay. We show that DNA methylation patterns are dysregulated in ectodermal cells in these individuals, having accounted for confounding effects due to subject age, sex and ancestral haplotype. We did not find mosaic aneuploidy or copy number variability to occur at differentially-methylated regions in these subjects. Of note, the loci with distinctive DNA methylation were found at genes expressed in the brain and encoding protein products significantly enriched for interactions with those produced by known ASD-causing genes, representing a perturbation by epigenomic dysregulation of the same networks compromised by DNA mutational mechanisms. The results indicate the presence of a mosaic subpopulation of epigenetically-dysregulated, ectodermally-derived cells in subjects with ASD. The epigenetic dysregulation observed in these ASD subjects born to older mothers may be associated with aging parental gametes, environmental influences during embryogenesis or could be the consequence of mutations of the chromatin regulatory genes increasingly implicated in ASD. The results indicate that epigenetic dysregulatory mechanisms may complement

Disease: H00647 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available tyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived struc...tures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVR

Genetics Home Reference: focal dermal hypoplasia

Science.gov (United States)

... in people with focal dermal hypoplasia is an omphalocele , which is an opening in the wall of ... Dermal Hypoplasia MedlinePlus Encyclopedia: Ectodermal dysplasia MedlinePlus Encyclopedia: Omphalocele General Information from MedlinePlus (5 links) Diagnostic Tests ...

Disease: H00712 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available is-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision.... Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearin

Mondini Dysplasia Presenting as Otorrhea without Meningitis

OpenAIRE

Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

2012-01-01

Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...

Kidney Dysplasia

Science.gov (United States)

... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...

Knee radiography in the diagnosis of skeletal dysplasias

International Nuclear Information System (INIS)

Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

2006-01-01

Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)

Automated detection of esophageal dysplasia in in vivo optical coherence tomography images of the human esophagus

Science.gov (United States)

Kassinopoulos, Michalis; Dong, Jing; Tearney, Guillermo J.; Pitris, Costas

2018-02-01

Catheter-based Optical Coherence Tomography (OCT) devices allow real-time and comprehensive imaging of the human esophagus. Hence, they provide the potential to overcome some of the limitations of endoscopy and biopsy, allowing earlier diagnosis and better prognosis for esophageal adenocarcinoma patients. However, the large number of images produced during every scan makes manual evaluation of the data exceedingly difficult. In this study, we propose a fully automated tissue characterization algorithm, capable of discriminating normal tissue from Barrett's Esophagus (BE) and dysplasia through entire three-dimensional (3D) data sets, acquired in vivo. The method is based on both the estimation of the scatterer size of the esophageal epithelial cells, using the bandwidth of the correlation of the derivative (COD) method, as well as intensity-based characteristics. The COD method can effectively estimate the scatterer size of the esophageal epithelium cells in good agreement with the literature. As expected, both the mean scatterer size and its standard deviation increase with increasing severity of disease (i.e. from normal to BE to dysplasia). The differences in the distribution of scatterer size for each tissue type are statistically significant, with a p value of < 0.0001. However, the scatterer size by itself cannot be used to accurately classify the various tissues. With the addition of intensity-based statistics the correct classification rates for all three tissue types range from 83 to 100% depending on the lesion size.

An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

Directory of Open Access Journals (Sweden)

Onur Elbasan

2017-12-01

Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

Expression of Podoplanin in Laryngeal Squamous Cell Carcinoma and Dysplasia.

Science.gov (United States)

Ibrahim, Badawia Bayoumy; Salem, Mostafa Mohamed; Khairy, Rasha Ahmed; Al Gunaid, Reema Abdul Rahman

2017-05-01

In human cancers, podoplanin expression and its correlation with tumour invasive potential raise its possible role as a diagnostic and prognostic marker for cancer. To investigate the immunohistochemical expression of podoplanin in laryngeal Squamous Cell Carcinoma (SCC) and dysplasia. This study included a total of 60 archived, formalin fixed, paraffin embedded tissue blocks of 40 cases of laryngeal SCC and 20 cases of dysplastic lesions. The samples were immunohistochemically analysed for podoplanin expression. Podoplanin expression was significantly higher in laryngeal SCC (90%) than laryngeal dysplastic lesions (55%) (p-value=0.002). The expression of podoplanin was significantly increased with the higher grades of dysplasia (p-value=0.016). A significant positive correlation was detected between podoplanin expression in laryngeal SCC and depth of tumour invasion (p-value=0.035), and stage (p-value=0.026). The high expression of podoplanin in laryngeal SCC and its significant correlation with poor prognostic parameters recommends podoplanin as a prognostic marker in laryngeal SCC. In addition, increased podoplanin expression with higher grades of dysplasia, supports its role in malignant transformation and allows us to recommend its evaluation in premalignant lesions.

Donor Human Milk Protects against Bronchopulmonary Dysplasia: A Systematic Review and Meta-Analysis.

Science.gov (United States)

Villamor-Martínez, Eduardo; Pierro, Maria; Cavallaro, Giacomo; Mosca, Fabio; Kramer, Boris W; Villamor, Eduardo

2018-02-20

Bronchopulmonary dysplasia (BPD) is the most common complication after preterm birth. Pasteurized donor human milk (DHM) has increasingly become the standard of care for very preterm infants over the use of preterm formula (PF) if the mother's own milk (MOM) is unavailable. Studies have reported beneficial effects of DHM on BPD. We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) and observational studies on the effects of DHM on BPD and other respiratory outcomes. Eighteen studies met the inclusion criteria. Meta-analysis of RCTs could not demonstrate that supplementation of MOM with DHM reduced BPD when compared to PF (three studies, risk ratio (RR) 0.89, 95% confidence interval (CI) 0.60-1.32). However, meta-analysis of observational studies showed that DHM supplementation reduced BPD (8 studies, RR 0.78, 95% CI 0.67-0.90). An exclusive human milk diet reduced the risk of BPD, compared to a diet with PF and/or bovine milk-based fortifier (three studies, RR 0.80, 95% CI 0.68-0.95). Feeding raw MOM, compared to feeding pasteurized MOM, protected against BPD (two studies, RR 0.77, 95% CI 0.62-0.96). In conclusion, our data suggest that DHM protects against BPD in very preterm infants.

[Florid cemento-osseous dysplasia of the jaws].

Science.gov (United States)

Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

2011-06-01

Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.

[Cochleovestibular dysplasia: a case report].

Science.gov (United States)

Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

2010-04-01

Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.

[Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

Science.gov (United States)

Kaftan, H; Adamaszek, M; Hosemann, W

2006-08-01

Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.

Focal cemento-osseous dysplasia: review and a case report.

Science.gov (United States)

Salem, Y M Y; Osman, Y I; Norval, E J G

2010-10-01

Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

Ancestral regulatory circuits governing ectoderm patterning downstream of Nodal and BMP2/4 revealed by gene regulatory network analysis in an echinoderm.

Directory of Open Access Journals (Sweden)

Alexandra Saudemont

2010-12-01

Full Text Available Echinoderms, which are phylogenetically related to vertebrates and produce large numbers of transparent embryos that can be experimentally manipulated, offer many advantages for the analysis of the gene regulatory networks (GRN regulating germ layer formation. During development of the sea urchin embryo, the ectoderm is the source of signals that pattern all three germ layers along the dorsal-ventral axis. How this signaling center controls patterning and morphogenesis of the embryo is not understood. Here, we report a large-scale analysis of the GRN deployed in response to the activity of this signaling center in the embryos of the Mediterranean sea urchin Paracentrotus lividus, in which studies with high spatial resolution are possible. By using a combination of in situ hybridization screening, overexpression of mRNA, recombinant ligand treatments, and morpholino-based loss-of-function studies, we identified a cohort of transcription factors and signaling molecules expressed in the ventral ectoderm, dorsal ectoderm, and interposed neurogenic ("ciliary band" region in response to the known key signaling molecules Nodal and BMP2/4 and defined the epistatic relationships between the most important genes. The resultant GRN showed a number of striking features. First, Nodal was found to be essential for the expression of all ventral and dorsal marker genes, and BMP2/4 for all dorsal genes. Second, goosecoid was identified as a central player in a regulatory sub-circuit controlling mouth formation, while tbx2/3 emerged as a critical factor for differentiation of the dorsal ectoderm. Finally, and unexpectedly, a neurogenic ectoderm regulatory circuit characterized by expression of "ciliary band" genes was triggered in the absence of TGF beta signaling. We propose a novel model for ectoderm regionalization, in which neural ectoderm is the default fate in the absence of TGF beta signaling, and suggest that the stomodeal and neural subcircuits that we

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

NARCIS (Netherlands)

Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; de Vries, Bert B A; van Haelst, Mieke M; Zenker, Martin; Markello, Thomas C

2015-01-01

Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and

HID and KID syndromes are associated with the same connexin 26 mutation.

NARCIS (Netherlands)

Geel, M. van; Steensel, M.A.M. van; Kuster, W.; Hennies, H.C.; Happle, R.H.G.; Steijlen, P.M.; Konig, A.C.

2002-01-01

BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific

Mechanics of Fluid-Filled Interstitial Gaps. II. Gap Characteristics in Xenopus Embryonic Ectoderm.

Science.gov (United States)

Barua, Debanjan; Parent, Serge E; Winklbauer, Rudolf

2017-08-22

The ectoderm of the Xenopus embryo is permeated by a network of channels that appear in histological sections as interstitial gaps. We characterized this interstitial space by measuring gap sizes, angles formed between adjacent cells, and curvatures of cell surfaces at gaps. From these parameters, and from surface-tension values measured previously, we estimated the values of critical mechanical variables that determine gap sizes and shapes in the ectoderm, using a general model of interstitial gap mechanics. We concluded that gaps of 1-4 μm side length can be formed by the insertion of extracellular matrix fluid at three-cell junctions such that cell adhesion is locally disrupted and a tension difference between cell-cell contacts and the free cell surface at gaps of 0.003 mJ/m 2 is generated. Furthermore, a cell hydrostatic pressure of 16.8 ± 1.7 Pa and an interstitial pressure of 3.9 ± 3.6 Pa, relative to the central blastocoel cavity of the embryo, was found to be consistent with the observed gap size and shape distribution. Reduction of cell adhesion by the knockdown of C-cadherin increased gap volume while leaving intracellular and interstitial pressures essentially unchanged. In both normal and adhesion-reduced ectoderm, cortical tension of the free cell surfaces at gaps does not return to the high values characteristic of the free surface of the whole tissue. Copyright © 2017 Biophysical Society. Published by Elsevier Inc. All rights reserved.

Renal dysplasia and MRI: a clinician's perspective

Energy Technology Data Exchange (ETDEWEB)

Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

2008-01-15

Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

Mondini Dysplasia Presenting as Otorrhea without Meningitis

Directory of Open Access Journals (Sweden)

Chien-Yu Lin

2012-12-01

Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.

6th International Congres on Ectodermal Dysplasia

DEFF Research Database (Denmark)

Gjørup, Hans; Nyhuus, Lone; Buhl, Jytte

2015-01-01

was to report treatment experiences in boys with HED treated by implant-supported dental prostheses before puberty, and to evaluate the growth of jaws during the pubertal period. Material and methods. Two boys with X-linked HED, 10 yrs of age, were included. One boy was edentulous; the other one had two molars...... (55 & 36). In addition to two mandibular implants, the treatment included bone-augmentation and insertion of maxillary implants at the age of 10 yrs. Implant-supported removable prostheses were fabricated. The study material consisted of profile cephalograms, panoramic radiographs, and clinical photos...... in the pre-pubertal period might be considered as a treatment option in edentoulous individuals with HED and in individuals with HED and very few teeth (2-3)....

Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

International Nuclear Information System (INIS)

Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

2002-01-01

A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)

Differential genetic regulation of canine hip dysplasia and osteoarthritis.

Directory of Open Access Journals (Sweden)

Zhengkui Zhou

2010-10-01

Full Text Available Canine hip dysplasia (HD is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA. The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA.A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog. The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets. A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA.The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1 reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans.

Frontofacionasal Dysplasia

African Journals Online (AJOL)

rme

226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

Investigation of p16(INK4a) as a prognostic biomarker in oral epithelial dysplasia.

Science.gov (United States)

Nankivell, Paul; Williams, Hazel; Webster, Keith; Pearson, David; High, Alec; MacLennan, Kenneth; Senguven, Burcu; McConkey, Christopher; Rabbitts, Pamela; Mehanna, Hisham

2014-04-01

Human papilloma virus is a risk factor for oropharyngeal cancer. Evidence for a similar aetiological role in the development of oral dysplasia or its transformation to oral cancer is not as clear. Meta-analyses estimate the prevalence of high-risk human papilloma virus (HPV) serotypes to be three times higher in pre-malignant lesions and cancer than in normal oral mucosa. However, this does not imply a causal relationship. Conflicting results are reported from the few studies examining the prognostic significance of HPV positivity in the development of oral cancer. We aimed to examine the ability of p16(INK4a) protein expression, a surrogate marker of HPV infection, to predict malignant progression in a large cohort of oral dysplasia patients. One hundred forty eight oral dysplasia cases underwent immunohistochemical analysis using a monoclonal antibody against p16(INK4a) . Clinical factors were also collated on each case. Slides were double scored independently by two trained observers. Univariate analyses using both logistic and Cox regression models were performed. Thirty nine of 148 cases progressed to cancer. Ten of 148 cases (7%) were p16(INK4a) positive. High grade of dysplasia (P = 0.0002) and lesion morphology (P = 0.03) were found to be prognostic of malignant progression. p16(INK4a) score was not prognostic in this cohort (P = 0.29). This did not change with a time to event analysis (P = 0.24). Few studies have assessed the aetiological role of HPV in cancer development from dysplastic lesions. Our study, using one of the largest cohorts of oral dysplasia, demonstrated a low rate of p16(INK4a) positivity and was unable to confirm a prognostic ability for this biomarker. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Limited hair cell induction from human induced pluripotent stem cells using a simple stepwise method.

Science.gov (United States)

Ohnishi, Hiroe; Skerleva, Desislava; Kitajiri, Shin-ichiro; Sakamoto, Tatsunori; Yamamoto, Norio; Ito, Juichi; Nakagawa, Takayuki

2015-07-10

Disease-specific induced pluripotent stem cells (iPS) cells are expected to contribute to exploring useful tools for studying the pathophysiology of inner ear diseases and to drug discovery for treating inner ear diseases. For this purpose, stable induction methods for the differentiation of human iPS cells into inner ear hair cells are required. In the present study, we examined the efficacy of a simple induction method for inducing the differentiation of human iPS cells into hair cells. The induction of inner ear hair cell-like cells was performed using a stepwise method mimicking inner ear development. Human iPS cells were sequentially transformed into the preplacodal ectoderm, otic placode, and hair cell-like cells. As a first step, preplacodal ectoderm induction, human iPS cells were seeded on a Matrigel-coated plate and cultured in a serum free N2/B27 medium for 8 days according to a previous study that demonstrated spontaneous differentiation of human ES cells into the preplacodal ectoderm. As the second step, the cells after preplacodal ectoderm induction were treated with basic fibroblast growth factor (bFGF) for induction of differentiation into otic-placode-like cells for 15 days. As the final step, cultured cells were incubated in a serum free medium containing Matrigel for 48 days. After preplacodal ectoderm induction, over 90% of cultured cells expressed the genes that express in preplacodal ectoderm. By culture with bFGF, otic placode marker-positive cells were obtained, although their number was limited. Further 48-day culture in serum free media resulted in the induction of hair cell-like cells, which expressed a hair cell marker and had stereocilia bundle-like constructions on their apical surface. Our results indicate that hair cell-like cells are induced from human iPS cells using a simple stepwise method with only bFGF, without the use of xenogeneic cells. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Clouston′s Disease in Three Sisters

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Jayakar Thomas

1988-01-01

Full Text Available In a family of four children, all females, three sisters presented with Clouston′s disease or hidrotic ectodermal dysplasia. The case is reported for the rarity of presentation in a single generation with no history of other family members affected.

Variability in dentofacial phenotypes in four families with WNT10A mutations

NARCIS (Netherlands)

Vink, C.P.; Ockeloen, C.W.; Ten Kate, S.; Koolen, D.A.; Ploos van Amstel, J.K.; Kuijpers-Jagtman, A.M.; Heumen, C.C.M. van; Kleefstra, T.; Carels, C.E.

2014-01-01

This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like

Development of angle-resolved low coherence interferometry for clinical detection of dysplasia

Directory of Open Access Journals (Sweden)

Yizheng Zhu

2011-01-01

Full Text Available This review covers the development of angle-resolved low coherence interferometry (a/LCI from initial development through clinical application. In the first applications, the approach used a time-domain interferometry scheme and was validated using animal models of carcinogenesis to assess the feasibility of detecting dysplasia in situ. Further development of the approach led to Fourier-domain interferometry schemes with higher throughput and endoscope-compatible probes to enable clinical application. These later implementations have been applied to clinical studies of dysplasia in Barrett′s esophagus tissues, a metaplastic tissue type that is associated with an increased risk of esophageal adenocarcinoma. As an alternative to systematic biopsy, the a/LCI approach offers high sensitivity and specificity for detecting dysplasia in these tissues while avoiding the need for tissue removal or exogenous contrast agents. Here, the various implementations of a/LCI are discussed and the results of the preliminary animal experiments and ex vivo human tissue studies are reviewed. A review of a recent in vivo clinical study is also presented.

bicaudal-C is required for the formation of anterior neurogenic ectoderm in the sea urchin embryo.

Science.gov (United States)

Yaguchi, Shunsuke; Yaguchi, Junko; Inaba, Kazuo

2014-10-31

bicaudal-C (bicC) mRNA encodes a protein containing RNA-binding domains that is reported to be maternally present with deflection in the oocytes/eggs of some species. The translated protein plays a critical role in the regulation of cell fate specification along the body axis during early embryogenesis in flies and frogs. However, it is unclear how it functions in eggs in which bicC mRNA is uniformly distributed, for instance, sea urchin eggs. Here, we show the function of BicC in the formation of neurogenic ectoderm of the sea urchin embryo. Loss-of-function experiments reveal that BicC is required for serotonergic neurogenesis and for expression of ankAT-1 gene, which is essential for the formation of apical tuft cilia in the neurogenic ectoderm of the sea urchin embryo. In contrast, the expression of FoxQ2, the neurogenic ectoderm specification transcription factor, is invariant in BicC morphants. Because FoxQ2 is an upstream factor of serotonergic neurogenesis and ankAT-1 expression, these data indicate that BicC functions in regulating the events that are coordinated by FoxQ2 during sea urchin embryogenesis.

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

NARCIS (Netherlands)

van Looij, Marjolein A. J.; Meijers-Heijboer, Hanne; Beetz, Rolf; Thakker, Rajesh V.; Christie, Paul T.; Feenstra, Lou W.; van Zanten, Bert G. A.

2006-01-01

Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to

Fibrous dysplasia of the femoral neck

International Nuclear Information System (INIS)

Savage, P.E.; Stoker, D.J.

1984-01-01

Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)

Mondini dysplasia presenting as otorrhea without meningitis.

Science.gov (United States)

Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

2012-12-01

Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.

Spondylometaepiphyseal dysplasia in a mother and her child

Energy Technology Data Exchange (ETDEWEB)

Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

1979-01-01

Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.

Donor Human Milk Protects against Bronchopulmonary Dysplasia: A Systematic Review and Meta-Analysis

Directory of Open Access Journals (Sweden)

Eduardo Villamor-Martínez

2018-02-01

Full Text Available Bronchopulmonary dysplasia (BPD is the most common complication after preterm birth. Pasteurized donor human milk (DHM has increasingly become the standard of care for very preterm infants over the use of preterm formula (PF if the mother’s own milk (MOM is unavailable. Studies have reported beneficial effects of DHM on BPD. We conducted a systematic review and meta-analysis of randomized controlled trials (RCTs and observational studies on the effects of DHM on BPD and other respiratory outcomes. Eighteen studies met the inclusion criteria. Meta-analysis of RCTs could not demonstrate that supplementation of MOM with DHM reduced BPD when compared to PF (three studies, risk ratio (RR 0.89, 95% confidence interval (CI 0.60–1.32. However, meta-analysis of observational studies showed that DHM supplementation reduced BPD (8 studies, RR 0.78, 95% CI 0.67–0.90. An exclusive human milk diet reduced the risk of BPD, compared to a diet with PF and/or bovine milk-based fortifier (three studies, RR 0.80, 95% CI 0.68–0.95. Feeding raw MOM, compared to feeding pasteurized MOM, protected against BPD (two studies, RR 0.77, 95% CI 0.62–0.96. In conclusion, our data suggest that DHM protects against BPD in very preterm infants.

The scapula as a window to the diagnosis of skeletal dysplasias

International Nuclear Information System (INIS)

Mortier, G.R.; Rimoin, D.L.; Lachman, R.S.

1997-01-01

Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias. (orig.). With 8 figs

Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

International Nuclear Information System (INIS)

Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

2004-01-01

A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

Relationship between flexible flat foot and developmental hip dysplasia.

Science.gov (United States)

Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

2015-01-01

To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

Zoning of mucosal phenotype, dysplasia, and telomerase activity measured by telomerase repeat assay protocol in Barrett's esophagus

NARCIS (Netherlands)

Going, JJ; Fletcher-Monaghan, AJ; Neilson, L; Wisman, BA; van der Zee, A; Stuart, RC; Keith, WN

2004-01-01

Glandular dysplasia in Barrett's esophagus may regress spontaneously but can also progress to cancer. The human telomerase RNA template and the human telomerase reverse transcriptase enzyme which do not, of themselves, correlate strongly with telomerase activity, are too often overexpressed in

Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

Science.gov (United States)

Ogul, Hayri; Keskin, Emine

2018-05-01

Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

with oligodontia: review and case report

Directory of Open Access Journals (Sweden)

Čedomir Oblak

2013-04-01

Conclusion: Treatment of patients with ectodermal dysplasia and oligodontia is individual and must be targeted mainly at prevention, for it is necessary to conserve the patient’s own teeth and at the same time replace (the missing tissues and teeth, and correct the facial structures.

The role of the acetabular labrum in hip dysplasia

DEFF Research Database (Denmark)

Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

2013-01-01

A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

The association between cervical dysplasia, a short cervix, and preterm birth.

Science.gov (United States)

Miller, Emily S; Sakowicz, Allie; Grobman, William A

2015-10-01

We sought to determine whether cervical dysplasia in the absence of an excisional procedure is associated with an increased risk of preterm birth (PTB) and whether that risk is independent of the presence of a short cervix. This is a cohort study including women with a singleton pregnancy who underwent routine cervical length assessment between 18-23 6/7 weeks of gestation, stratified by cervical dysplasia (ie, no prior dysplasia, prior dysplasia but no excisional procedure, or prior excisional procedure). The frequency of a short cervix (≤2.5 cm) and PTB were compared between groups and multivariable analyses were performed to identify whether: (1) dysplasia alone or a prior excisional procedure was associated with PTB; and (2) whether these factors remained independently associated with PTB after adjusting for the presence of a short cervix. Of the 18,528 women who met inclusion criteria, 3023 (16.3%) had prior dysplasia alone and 1356 (7.3%) had a prior excisional procedure. The frequency of a short cervix for women without dysplasia, with prior dysplasia alone, or with a prior excisional procedure was 0.8%, 1.0%, and 2.2%, respectively (P cervix. Copyright © 2015 Elsevier Inc. All rights reserved.

The association between gender and familial prevalence of hip dysplasia in Danish patients

DEFF Research Database (Denmark)

El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

2017-01-01

BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...

Secondary influences and ectopic causes of canine hip dysplasia. Critical constructive thoughts to hip dysplasia diagnostics and to current breeding strategies

International Nuclear Information System (INIS)

Schawalder, P.; Spreng, D.; Dietschi, E.; Dolf, G.; Gaillard, C.

1996-01-01

This article questions the stagnation of breeding results by hip dysplasia screening and its current etiology. The ''Coxa Valga Antetorta'', anteversion of the hip joint and ''soft tissue displasia'' are discussed besides a multitude of primary diseases leading to growth deformities and other diseases in the hip. Ectopic primary causes like malformation of the spine leading to a secondary ''dysplatic'' osteoarthritis of the hip (functional secondary dysplasia) are also discussed in this article. Recent and very promising breeding strategies (estimation of the breeding value) in the battle against hip dysplasia are presented. Biochemical, immunological and structural aspects are presented as a not totally utopic perspecitive. Molecular genetic markers for hip dysplasia will offer in the near future a possibility to detect carriers ct the disease by a blood sample ion before clinical manifestation

Transcriptional analysis of left-sided colitis, pancolitis, and ulcerative colitis-associated dysplasia

DEFF Research Database (Denmark)

Bjerrum, Jacob T; Nielsen, Ole H; Riis, Lene B

2014-01-01

to identify potential biomarkers and transcripts of importance for the carcinogenic behavior of chronic inflammation. METHODS: The Affymetrix GeneChip Human Genome U133 Plus 2.0 was applied on colonic biopsies from UC patients with left-sided UC, pancolitis, dysplasia, and controls. Reverse transcription...... polymerase chain reaction and immunohistochemistry were performed for validating selected transcripts in the initial cohort and in 2 independent cohorts of patients with UC. Microarray data were analyzed by principal component analysis, and reverse transcription polymerase chain reaction...... and immunohistochemistry data by the Wilcoxon's rank-sum test. RESULTS: The principal component analysis results revealed separate clusters for left-sided UC, pancolitis, dysplasia, and controls. Close clustering of dysplastic and pancolitic samples indicated similarities in gene expression. Indeed, 101 and 656 parallel...

Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

Science.gov (United States)

... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

Thanatophoric Dysplasia: A Rare Entity

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N.S. Naveen

2011-05-01

Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.

Overexpression of Shox2 Leads to Congenital Dysplasia of the Temporomandibular Joint in Mice

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Xihai Li

2014-07-01

Full Text Available Our previous study reported that inactivation of Shox2 led to dysplasia and ankylosis of the temporomandibular joint (TMJ, and that replacing Shox2 with human Shox partially rescued the phenotype with a prematurely worn out articular disc. However, the mechanisms of Shox2 activity in TMJ development remain to be elucidated. In this study, we investigated the molecular and cellular basis for the congenital dysplasia of TMJ in Wnt1-Cre; pMes-stop Shox2 mice. We found that condyle and glenoid fossa dysplasia occurs primarily in the second week after the birth. The dysplastic TMJ of Wnt1-Cre; pMes-stop Shox2 mice exhibits a loss of Collagen type I, Collagen type II, Ihh and Gli2. In situ zymography and immunohistochemistry further demonstrate an up-regulation of matrix metalloproteinases (MMPs, MMP9 and MMP13, accompanied by a significantly increased cell apoptosis. In addition, the cell proliferation and expressions of Sox9, Runx2 and Ihh are no different in the embryonic TMJ between the wild type and mutant mice. Our results show that overexpression of Shox2 leads to the loss of extracellular matrix and the increase of cell apoptosis in TMJ dysplasia by up-regulating MMPs and down-regulating the Ihh signaling pathway.

Regulatory sequences driving expression of the sea urchin Otp homeobox gene in oral ectoderm cells.

Science.gov (United States)

Cavalieri, Vincenzo; Bernardo, Maria Di; Spinelli, Giovanni

2007-01-01

PlOtp (Orthopedia), a homeodomain-containing transcription factor, has been recently characterized as a key regulator of the morphogenesis of the skeletal system in the embryo of the sea urchin Paracentrotus lividus. Otp acts as a positive regulator in a subset of oral ectodermal cells which transmit short-range signals to the underlying primary mesenchyme cells where skeletal synthesis is initiated. To shed some light on the molecular mechanisms involved in such a process, we begun a functional analysis of the cis-regulatory sequences of the Otp gene. Congruent with the spatial expression profile of the endogenous Otp gene, we found that while a DNA region from -494 to +358 is shown to drive in vivo GFP reporter expression in the oral ectoderm, but also in the foregut, a larger region spanning from -2044 to +358 is needed to give firmly established tissue specificity. Microinjection of PCR-amplified DNA constructs, truncated in the 5' regulatory region, and determination of GFP mRNA level in injected embryos allowed the identification of a 5'-flanking fragment of 184bp in length, essential for expression of the transgene in the oral ectoderm of pluteus stage embryos. Finally, we conducted DNAse I-footprinting assays in nuclear extracts for the 184bp region and detected two protected sequences. Data bank search indicates that these sites contain consensus binding sites for transcription factors.

Papillary bile duct dysplasia in primary sclerosing cholangitis.

Science.gov (United States)

Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

1992-06-01

A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

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Maria Francis Yuvaraj

2017-01-01

Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

Progressive pseudorheumatoid dysplasia in North and West Africa ...

African Journals Online (AJOL)

Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...

The correlation between HIV seropositivity, cervical dysplasia, and HPV subtypes 6/11, 16/18, 31/33/35

DEFF Research Database (Denmark)

Tweddel, G; Heller, P; Cunnane, M

1994-01-01

Twenty-one human immunodeficiency virus (HIV) seropositive patients were studied to determine the prevalence of cervical dysplasia, the distribution of human papilloma virus (HPV) subtypes, and the utility of cytologic diagnosis in this population. The patients ranged in age from 18 to 41 years...

The Impact of the Eda Pathway on Tooth Root Development.

Czech Academy of Sciences Publication Activity Database

Fons Romero, J.M.; Star, H.; Lav, R.; Watkins, S.; Harrison, M.; Hovořáková, Mária; Headon, D.; Tucker, Abigail

2017-01-01

Roč. 96, č. 11 (2017), s. 1290-1297 ISSN 0022-0345 R&D Projects: GA ČR(CZ) GB14-37368G Institutional support: RVO:68378041 Keywords : tooth * ectodermal dysplasia * epithelium Subject RIV: EA - Cell Biology OBOR OECD: Developmental biology Impact factor: 4.755, year: 2016

Fourier-domain angle-resolved low coherence interferometry for clinical detection of dysplasia

Science.gov (United States)

Terry, Neil G.; Zhu, Yizheng; Wax, Adam

2010-02-01

Improved methods for detecting dysplasia, or pre-cancerous growth are a current clinical need, particularly in the esophagus. The currently accepted method of random biopsy and histological analysis provides only a limited examination of tissue in question while being coupled with a long time delay for diagnosis. Light scattering spectroscopy, in contrast, allows for inspection of the cellular structure and organization of tissue in vivo. Fourier-domain angle-resolved low-coherence interferometry (a/LCI) is a novel light scattering spectroscopy technique that provides quantitative depth-resolved morphological measurements of the size and optical density of the examined cell nuclei, which are characteristic biomarkers of dysplasia. Previously, clinical viability of the a/LCI system was demonstrated through analysis of ex vivo human esophageal tissue in Barrett's esophagus patients using a portable a/LCI, as was the development of a clinical a/LCI system. Data indicating the feasibility of the technique in other organ sites (colon, oral cavity) will be presented. We present an adaptation of the a/LCI system that will be used to investigate the presence of dysplasia in vivo in Barrett's esophagus patients.

Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

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Macpherson, R.I.; Wood, B.P.

1980-07-01

Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

Treatment of oral dysplasia with 5% imiquimod cream: short communication.

Science.gov (United States)

Mullins, R; Ansell, M; Laverick, S

2016-11-01

We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

Pseudoachondroplastic dysplasia.

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Khungar A

1993-04-01

Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

Joint space width in dysplasia of the hip

DEFF Research Database (Denmark)

Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

2005-01-01

. Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...

[Protein-energy malnutrition in patients with connective tissue dysplasia].

Science.gov (United States)

Lialiukova, E A

2013-01-01

In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.

Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

Science.gov (United States)

Zakaria, Samar H; Farag, Heba A; Khater, Dina S

2016-03-17

Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

Craniofacial fibrous dysplasia - A review of current management techniques

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Yadavalli Guruprasad

2012-01-01

Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.

Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

Science.gov (United States)

Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

2003-06-01

Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.

Mondini dysplasia

International Nuclear Information System (INIS)

Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

1992-01-01

Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)

Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

Science.gov (United States)

Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

2017-12-01

Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an

The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction

Science.gov (United States)

Jin, Yong-Ri; Turcotte, Taryn J.; Crocker, Alison L.; Han, Xiang Hua; Yoon, Jeong Kyo

2011-01-01

R-spondins are a recently characterized family of secreted proteins that activate Wnt/β-catenin signaling. Herein, we determine R-spondin2 (Rspo2) function in craniofacial development in mice. Mice lacking a functional Rspo2 gene exhibit craniofacial abnormalities such as mandibular hypoplasia, maxillary and mandibular skeletal deformation, and cleft palate. We found that loss of the mouse Rspo2 gene significantly disrupted Wnt/β-catenin signaling and gene expression within the first branchial arch (BA1). Rspo2, which is normally expressed in BA1 mesenchymal cells, regulates gene expression through a unique ectoderm-mesenchyme interaction loop. The Rspo2 protein, potentially in combination with ectoderm-derived Wnt ligands, up-regulates Msx1 and Msx2 expression within mesenchymal cells. In contrast, Rspo2 regulates expression of the Dlx5, Dlx6, and Hand2 genes in mesenchymal cells via inducing expression of their upstream activator, Endothelin1 (Edn1), within ectodermal cells. Loss of Rspo2 also causes increased cell apoptosis, especially within the aboral (or caudal) domain of the BA1, resulting in hypoplasia of the BA1. Severely reduced expression of Fgf8, a survival factor for mesenchymal cells, in the ectoderm of Rspo2−/− embryos is likely responsible for increased cell apoptosis. Additionally, we found that cleft palate in Rspo2−/− mice is not associated with defects intrinsic to the palatal shelves. A possible cause of cleft palate is a delay of proper palatal shelf elevation that may result from the small mandible and a failure of lowering the tongue. Thus, our study identifies Rspo2 as a mesenchyme-derived factor that plays critical roles in regulating BA1 patterning and morphogenesis through ectodermal-mesenchymal interaction and a novel genetic factor for cleft palate. PMID:21237142

Bilateral anophthalmia with septo-optic dysplasia

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Manisha Jana

2010-01-01

Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

Comparison of three methods to diagnose hip dysplasia in dogs

International Nuclear Information System (INIS)

Sharma, Vikas; Mohindroo, J.

2009-01-01

The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia

Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

Directory of Open Access Journals (Sweden)

Carolina da Fonseca Sapin

2017-10-01

Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.

Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

International Nuclear Information System (INIS)

Kahn, Leonard B.

2003-01-01

For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)

Variable manifestations of dysplasia epiphysealis hemimelica

Energy Technology Data Exchange (ETDEWEB)

Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

1985-01-01

Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

Addition of all-trans-retinoic acid to omeprazole and sucralfate therapy improves the prognosis of gastric dysplasia.

Science.gov (United States)

Jin, Jianjun; Li, Xiaozhen; Xing, Luqi; Chang, Yongchao; Wu, Lijuan; Jin, Zhe; Su, Xiuli; Bai, Yanli; Zheng, Yufeng; Jiang, Yalin; Zhao, Xiao; Lu, Lan; Gao, Qiang

2015-04-01

To investigate the efficacy of all-trans retinoic acid (ATRA) in human gastric dysplasia. In this double-blind study, patients with precancerous gastric dysplasia with or without intestinal metaplasia (IM) received either conventional treatment consisting of omeprazole and sucralfate (control group) or conventional treatment plus ATRA. Gastric mucosal biopsies were performed before and after drug treatment and were analysed histologically; expression of retinoblastoma (Rb) protein and HER2 protein in gastric mucosa were measured using immunohistochemistry. A total of 122 patients were included in the study, 63 in the ATRA group and 59 in the control group. In the ATRA group, dysplasia was attenuated in 43 out of 63 patients (68%) compared with 22 out of 59 patients (37%) in the control group; however, IM was not affected by treatment in either group. ATRA treatment was associated with significantly increased Rb expression and decreased HER2 expression in gastric mucosa. The use of conventional therapy plus ATRA for gastric dysplasia was associated with improved efficacy compared with conventional therapy alone. It was also accompanied by increased Rb expression and decreased HER2 expression in gastric mucosa. The addition of ATRA to conventional therapy for gastritis may improve the prognosis of gastric dysplasia. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

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Sreelakshmi N. Nair

2016-01-01

Full Text Available Fibrous dysplasia (FD is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type or multiple bones (polyostotic type. It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF. Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

The Possible Relationship Between Mammary Dysplasia and Breast ...

African Journals Online (AJOL)

Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...

Cleidocranial dysplasia: a case report

International Nuclear Information System (INIS)

Han, Jin Won

2005-01-01

Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

Managing Children with Bronchopulmonary Dysplasia

Directory of Open Access Journals (Sweden)

A. A. Baranov

2016-01-01

Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

Sponastrime dysplasia. A radiologic-pathologic correlation

Energy Technology Data Exchange (ETDEWEB)

Lachman, R S; Stoss, H; Spranger, J

1989-07-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

Sponastrime dysplasia. A radiologic-pathologic correlation

Energy Technology Data Exchange (ETDEWEB)

Lachman, R.S.; Stoss, H.; Spranger, J.

1989-07-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

International Nuclear Information System (INIS)

Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J.; Saghieh, Said; Tawil, Ayman

2008-01-01

Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

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Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

2008-12-15

Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

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Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

1994-07-01

Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis.

Resource Centres for Rare Oral Diseases – Why?

DEFF Research Database (Denmark)

Daugaard-Jensen, Jette; Gjørup, Hans

2010-01-01

.5-73) and the male/female ratio was equal (1.06) Results: A: Oligodontia (N=154 ) and Amelogenesis Imperfecta (N=146 ) were the most frequently diagnosed dental anomalies. B: Osteogenesis Imperfecta (N=88), Ectodermal Dysplasia (N=81), Ehlers Danlos Syndrome (61) and Marfan Syndrome (N=44) were the largest groups...

Different morphotypes of functional dentition in the lower molar region of tabby (EDA) mice

Czech Academy of Sciences Publication Activity Database

Kristenová, Pavlína; Peterka, Miroslav; Lisi, S.; Gendrault, J. L.; Lesot, H.; Peterková, Renata

2002-01-01

Roč. 5, - (2002), s. 205-214 ISSN 1397-5927 R&D Projects: GA AV ČR IAA7039901; GA MŠk OC B8.10; GA ČR GA304/02/0448 Institutional research plan: CEZ:AV0Z5039906 Keywords : breeding * ectodermal dysplasia * EDA Subject RIV: EA - Cell Biology

Different morphotypes of the tabby (EDA) dentition in the mouse mandible result from a defect in the mesio-distal segmentation of dental epithelium

Czech Academy of Sciences Publication Activity Database

Peterková, Renata; Kristenová, Pavlína; Lesot, H.; Lisi, S.; Vonesch, J. L.; Gendrault, J. L.; Peterka, Miroslav

2002-01-01

Roč. 5, - (2002), s. 215-226 ISSN 1397-5927 R&D Projects: GA AV ČR IAA7039901; GA ČR GA304/02/0448; GA MŠk OC B8.10 Institutional research plan: CEZ:AV0Z5039906 Keywords : development * ectodermal dysplasia * EDA Subject RIV: EA - Cell Biology

Author Details

African Journals Online (AJOL)

... indices in children with primary nephrotic syndrome and acute glamerulonephritis. Abstract PDF · Vol 39, No 2 (2012) - Articles Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review. Abstract PDF · Vol 39, No 4 (2012) - Articles Diuretics use in Paediatric practice with focus on Furosemide

Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.

NARCIS (Netherlands)

Steensel, M.A.M. van; Koedam, M.I.; Swinkels, O.Q.J.; Rietveld, F.J.R.; Steijlen, P.M.

2001-01-01

We describe a Dutch kindred with a possibly novel dominant syndrome of premature loss of curly, brittle hair, premature loss of teeth due to caries, nail dystrophy and acral keratoderma. We discuss the possibility that this ectodermal dysplasia of group 1-2-3-4 is a variant of known disorders such

Assessment of adult hip dysplasia and the outcome of surgical treatment

DEFF Research Database (Denmark)

Troelsen, Anders

2012-01-01

Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...

Focal cemento-osseous dysplasia masquerading as a residual cyst.

Science.gov (United States)

Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

2012-04-01

Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

Focal cemento-osseous dysplasia masquerading as a residual cyst

Directory of Open Access Journals (Sweden)

Rajat Bhandari

2012-01-01

Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

A new type of spondylo-metaphyseal dysplasia - Algerian type

International Nuclear Information System (INIS)

Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

1988-01-01

A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

Familial florid Cemento-osseous dysplasia - case report and review of literature.

Science.gov (United States)

Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

2015-12-01

Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

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Gautier Chene

2012-01-01

Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

Assessment of hip dysplasia and osteoarthritis: Variability of different methods

International Nuclear Information System (INIS)

Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

2010-01-01

Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

Stem-cell-specific endocytic degradation defects lead to intestinal dysplasia in Drosophila

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Péter Nagy

2016-05-01

Full Text Available UV radiation resistance-associated gene (UVRAG is a tumor suppressor involved in autophagy, endocytosis and DNA damage repair, but how its loss contributes to colorectal cancer is poorly understood. Here, we show that UVRAG deficiency in Drosophila intestinal stem cells leads to uncontrolled proliferation and impaired differentiation without preventing autophagy. As a result, affected animals suffer from gut dysfunction and short lifespan. Dysplasia upon loss of UVRAG is characterized by the accumulation of endocytosed ligands and sustained activation of STAT and JNK signaling, and attenuation of these pathways suppresses stem cell hyperproliferation. Importantly, the inhibition of early (dynamin-dependent or late (Rab7-dependent steps of endocytosis in intestinal stem cells also induces hyperproliferation and dysplasia. Our data raise the possibility that endocytic, but not autophagic, defects contribute to UVRAG-deficient colorectal cancer development in humans.

Quantitative assessment of myofibroblast in severe dysplasia, microinvasion and oral squamous cell carcinoma: an immunohistochemical study.

Science.gov (United States)

Kapse, Sonam C; Rathod, Nanita; Baad, Rajendra; Mandlik, Jyoti; Sharma, Anupam S; Bommanavar, Sushma

2013-01-01

Myofibroblast are essential for the integrity of human body by virtue of its role in wound healing and pathological organ remodeling. Myofibroblast is a universal cellular component in mammalian lesions, but not a typical component of normal untraumatized tissues. Therefore its presence in abundance in case of cancer is a matter of concern. Tumor microenvironment plays a pivotal role in tumor progression. These so called cancer associated fibroblast or myofibroblast are the major components and occur in stromal tissue during carcinogenesis processes. This study is a quantitative assessment of presence and distribution of myofibroblast in severe dysplasia, microinvasion and oral squamous cell carcinoma (OSCC). Myofibroblast, Vimentin, α-SMA, OSCC, Severe dysplasia, Microinvasion. How to cite this article: Kapse SC, Rathod N, Baad R, Mandlik J, Sharma AS, Bommanavar S. Quantitative Assessment of Myofibroblast in Severe Dysplasia, Microinvasion and Oral Squamous Cell Carcinoma: An Immunohistochemical Study. J Contemp Dent Pract 2013;14(1):34-38. Source of support: Nil Conflict of interest: None declared.

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

NARCIS (Netherlands)

Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

2008-01-01

There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

Management of high-grade dysplasia in Barrett's esophagus.

Science.gov (United States)

Palley, S L; Sampliner, R E; Garewal, H S

1989-08-01

When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

Occipital projections in the skeletal dysplasias

International Nuclear Information System (INIS)

Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

2004-01-01

Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)

Canine hip dysplasia: significance of early bony spurring

International Nuclear Information System (INIS)

Morgan, J.P.

1987-01-01

It is the purpose of this study to call attention to new bone production that often occurs early in the sequence of pathological changes associated with canine hip dysplasia. New bone production extending to bony remodeling, as well as femoral head subluxation, both occur in the sequence of pathologic changes associated with canine hip dysplasia. Subluxation is considered primary, while osteoarthrosis is a secondary feature, and both are used in the diagnosis of canine hip dysplasia. This report concerns the significance of the presence of a solitary bony osteophyte, or spur, that is frequently evident on the caudal aspect of the femoral neck as viewed on the conventional ventrodorsal projection. This report utilizes findings from pelvic radiographs of 605 dogs (five breeds). There was a greater frequency (54%)of this bony change in cases diagnosed radiographically as dysplastic than in cases diagnosed as normal(15%).Thus, it is suggested that this minimal radiographic change can be used as an indicator of early canine hip dysplasia, especially in the absence of subluxation of the femoral head

Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

Science.gov (United States)

Nkrumah, F K

1971-03-01

A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

The patellofemoral joint: from dysplasia to dislocation

Science.gov (United States)

Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

2017-01-01

Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757

A requirement for FGF signalling in the formation of primitive streak-like intermediates from primitive ectoderm in culture.

Directory of Open Access Journals (Sweden)

Zhiqiang Zheng

Full Text Available BACKGROUND: Embryonic stem (ES cells hold considerable promise as a source of cells with therapeutic potential, including cells that can be used for drug screening and in cell replacement therapies. Differentiation of ES cells into the somatic lineages is a regulated process; before the promise of these cells can be realised robust and rational methods for directing differentiation into normal, functional and safe cells need to be developed. Previous in vivo studies have implicated fibroblast growth factor (FGF signalling in lineage specification from pluripotent cells. Although FGF signalling has been suggested as essential for specification of mesoderm and endoderm in vivo and in culture, the exact role of this pathway remains unclear. METHODOLOGY/PRINCIPAL FINDINGS: Using a culture model based on early primitive ectoderm-like (EPL cells we have investigated the role of FGF signalling in the specification of mesoderm. We were unable to demonstrate any mesoderm inductive capability associated with FGF1, 4 or 8 signalling, even when the factors were present at high concentrations, nor any enhancement in mesoderm formation induced by exogenous BMP4. Furthermore, there was no evidence of alteration of mesoderm sub-type formed with addition of FGF1, 4 or 8. Inhibition of endogenous FGF signalling, however, prevented mesoderm and favoured neural differentiation, suggesting FGF signalling was required but not sufficient for the differentiation of primitive ectoderm into primitive streak-like intermediates. The maintenance of ES cell/early epiblast pluripotent marker expression was also observed in cultures when FGF signalling was inhibited. CONCLUSIONS/SIGNIFICANCE: FGF signalling has been shown to be required for the differentiation of primitive ectoderm to neurectoderm. This, coupled with our observations, suggest FGF signalling is required for differentiation of the primitive ectoderm into the germ lineages at gastrulation.

Renal dysplasia in a Rhodesian Ridgeback dog

International Nuclear Information System (INIS)

Lobetti, R.G.; Pearson, J.; Jimenez, M.

1996-01-01

A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

Cemento-osseous dysplasia in Jamaica: review of six cases.

Science.gov (United States)

Ogunsalu, C; Miles, D

2005-09-01

Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.

A new syndrome of 'spondylo-epi-metaphyseal dysplasia: mixed type''

International Nuclear Information System (INIS)

Sharma, B.G.

2003-01-01

A new type of rare bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short limb-abnormal calcification type and lethal metatropic dysplasia. Besides these features, the present case has some additional unusual features. Facial malformation was very obvious and of a different type. The nose and nares were completely flattened. Hypertrophied acetabular bones, round densities on the ilia, premature ossification of many epiphyses and carpal bones, curvilinear calcifications in some joints, fusion of the ischiopubic rami, calcification of many costal cartilages and thick sclerotic base of the skull were a few of the significant findings. On the basis of the clinical and radiological features, the condition has been named ''spondylo-epi-metaphyseal dysplasia: mixed type''. (orig.)

Radiographic Differential Diagnosis Between The Fibrous Dysplasia And The Ossifying Fibroma

Energy Technology Data Exchange (ETDEWEB)

Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

1999-02-15

The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.

Influence of hip dysplasia on the development of osteoarthritis of the hip

NARCIS (Netherlands)

A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

2004-01-01

textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip

Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

Energy Technology Data Exchange (ETDEWEB)

Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

2002-07-01

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten

A novel missense mutation in collagenous domain of EDA gene in a ...

Indian Academy of Sciences (India)

Supplementary data: A novel missense mutation in collagenous domain of EDA gene in a. Chinese family with X-linked hypohidrotic ectodermal dysplasia. Daxu Li, Ran Xu, Fumeng Huang, Biyuan Wang, Yu Tao, Zijian Jiang, Hairui Li, Jianfeng Yao,. Peng Xu, Xiaokang Wu, Le Ren, Rui Zhang, John R. Kelsoe and Jie Ma.

Assessment of hip dysplasia and osteoarthritis: Variability of different methods

Energy Technology Data Exchange (ETDEWEB)

Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

2010-03-15

Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

Dysplasia epiphysealis hemimelica of the tibial tubercle

Energy Technology Data Exchange (ETDEWEB)

Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

2006-03-15

Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)

Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

Directory of Open Access Journals (Sweden)

Mary Mathew

2012-01-01

Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

Energy Technology Data Exchange (ETDEWEB)

Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

2004-01-01

A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

Pathophysiology, diagnosis, and treatment of canine hip dysplasia

International Nuclear Information System (INIS)

Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

1996-01-01

Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education

Cleidocranial dysplasia: a case report

International Nuclear Information System (INIS)

Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

2004-01-01

Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

Localised form of spondylo-epiphyseal dysplasia congenita

International Nuclear Information System (INIS)

Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

1988-01-01

We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

Cleidocranial dysplasia: Report of 4 cases and review

Directory of Open Access Journals (Sweden)

Virender Gombra

2008-01-01

Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

Directory of Open Access Journals (Sweden)

Kate A

2009-01-01

Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

Energy Technology Data Exchange (ETDEWEB)

Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

2000-06-15

Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

International Nuclear Information System (INIS)

Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

2000-01-01

Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

Clinical manifestations of Ellis-van Creveld syndrome

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Vinay C

2009-01-01

Full Text Available Ellis-van Creveld syndrome (EVC is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.

A case report of arrhythmogenic right ventricular dysplasia

Directory of Open Access Journals (Sweden)

Henry Anselmo Mayala

2013-01-01

Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

African Journals Online (AJOL)

Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...

Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

Energy Technology Data Exchange (ETDEWEB)

Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Mangano, Francesco T. [Cincinnati Children' s Hospital Medical Center, Department of Neurosurgery, Cincinnati, OH (United States); Rozhkov, Leonid; Greiner, Hansel M. [Cincinnati Children' s Hospital Medical Center, Department of Neurology, Comprehensive Epilepsy Treatment Center, Cincinnati, OH (United States); Miles, Lili [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

2016-09-15

Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)

Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

International Nuclear Information System (INIS)

Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J.; Mangano, Francesco T.; Rozhkov, Leonid; Greiner, Hansel M.; Miles, Lili

2016-01-01

Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)

Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

OpenAIRE

Woods, C G; Rogers, J G; Mayne, V

1994-01-01

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have...

Florid osseous dysplasia of the jaws

International Nuclear Information System (INIS)

Cho, Su Beom; Koh, Kwang Joon

1995-01-01

Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.

Septooptic dysplasia : a case report

International Nuclear Information System (INIS)

Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

2001-01-01

Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

Genetics Home Reference: metatropic dysplasia

Science.gov (United States)

... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

Fibromuscular dysplasia of renal arteries

International Nuclear Information System (INIS)

Akhtar, N.; Ahmed, T.M.

2007-01-01

This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

[Bronchopulmonary dysplasia: definitions and classifications].

Science.gov (United States)

Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

2013-10-01

Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

International Nuclear Information System (INIS)

Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun

2002-01-01

To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

Directory of Open Access Journals (Sweden)

Gunjan Verma

2017-01-01

Full Text Available We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD, which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO syndrome. We focus on this uncommon entity (XLO to highlight the differentials of alopecia with palmoplantar keratoderma.

Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

Energy Technology Data Exchange (ETDEWEB)

Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

2008-01-15

MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

International Nuclear Information System (INIS)

Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

2008-01-01

MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

Lung volume reduction surgery in bronchopulmonary dysplasia.

Science.gov (United States)

Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

2003-06-01

We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

Rasmussen's encephalitis presenting as focal cortical dysplasia

Science.gov (United States)

O'Rourke, D.J.; Bergin, A.; Rotenberg, A.; Peters, J.; Gorman, M.; Poduri, A.; Cryan, J.; Lidov, H.; Madsen, J.; Harini, C.

2014-01-01

Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

Fibrous dysplasia of bone

International Nuclear Information System (INIS)

Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

1983-01-01

Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

Podoplanin expression as a predictive marker of dysplasia in oral leukoplakia.

Science.gov (United States)

Gissi, Davide Bartolomeo; Gabusi, Andrea; Tarsitano, Achille; Luccarini, Laura; Morandi, Luca; Montebugnoli, Lucio

2018-05-01

Recent studies have emphasized the role of podoplanin in oral lesions at risk of malignant transformation. We investigated a group of oral leukoplakias (OLs) to determine a possible relation between altered podoplanin expression and dysplasia, and to compare the results with those obtained by other, widely used biomarkers. The population consisted of 40 consecutive patients with a clinical and histological diagnosis of OL. Thirty-two OLs did not show dysplasia, whereas eight lesions presented with dysplasia. Immunohistochemical expression of podoplanin, p53 and Ki67 was analyzed in all samples. All three biomarkers were positive in seven of eight dysplastic OLs. Among the 32 OLs without dysplasia, Ki67 and p53 showed positive values in 21 and 10 samples respectively, whereas podoplanin was positive in only one case. Multiple logistic regression showed that podoplanin was the most powerful variable (Chi square 9.77; p < .01) statistically related to the presence of dysplasia. In addition, podoplanin showed a higher specificity value (96.87%) than Ki67 (34.37%) and p53 (68.75%). Podoplanin seems to be a reliable means of discriminating lesions with epithelial dysplasia and could be introduced in routine practice as a marker to discriminate OLs at risk of developing cancer. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

2010-06-15

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

An Allelic Series of Trp63 Mutations Defines TAp63 as a Modifier of EEC Syndrome

Science.gov (United States)

Lindahl, Emma Vernersson; Garcia, Elvin L.; Mills, Alea A.

2014-01-01

Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which corresponds to the human TP63 p.Arg279His mutation found in patients with EEC, have features of human EEC. Using an allelic series, we discovered that whereas clefting and skin defects are caused by loss of Trp63 function, limb anomalies are due to gain- and/or dominant-negative effects of Trp63. Furthermore, we identify TAp63 as a strong modifier of EEC-associated phenotypes with regard to both penetrance and expressivity. PMID:23775923

The clinical research of bone scan in patients with fibrous dysplasia of bone

International Nuclear Information System (INIS)

Yuan Zhibin; Yu Jianfang; Luo Quanyong; Lu Hankui; Zhu Jifang; Zhu Ruisen

2002-01-01

Objective: To study the characteristics of fibrous dysplasia of bone in bone imaging and evaluate the diagnostic value of radionuclide bone scan in fibrous dysplasia of bone. Methods: All 42 cases of fibrous dysplasia of bone patients had radionuclide bone scan performed and compared with other imaging modalities. A retrospective study method was used to analyze the imaging results. Results: Although fibrous dysplasia of bone showed uptake of 99m Tc-MDP in the images, its appearance characteristic was different from those metastatic bone tumors and other bone diseases. Combining with X rays and other imaging modalities can improve the diagnostic accuracy of this disease. Conclusion: Radionuclide bone scan has got certain value in the diagnosis of fibrous dysplasia of bone. Combining with other imaging modality can make up its disadvantage of low specificity

A case report of arrhythmogenic right ventricular dysplasia

Directory of Open Access Journals (Sweden)

Henry Anselmo Mayala

2013-07-01

Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. Case Presentation In this report a 42 year old man was admitted at Wuhan union Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despite being among the rare cardiac disease, Arrhythmogenic right ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

Utx Is Required for Proper Induction of Ectoderm and Mesoderm during Differentiation of Embryonic Stem Cells

DEFF Research Database (Denmark)

Morales Torres, Cristina; Laugesen, Anne; Helin, Kristian

2013-01-01

to the establishment of ectoderm and mesoderm in vitro. Interestingly, this contribution is independent of the catalytic activity of Utx. Furthermore, we provide data showing that the Utx homologue, Uty, which is devoid of detectable demethylase activity, and Jmjd3 partly compensate for the loss of Utx. Taken together...

Genetics Home Reference: frontonasal dysplasia

Science.gov (United States)

... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

Rasmussen's encephalitis presenting as focal cortical dysplasia

Directory of Open Access Journals (Sweden)

D.J. O'Rourke

2014-01-01

Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.

Displasia broncopulmonar Bronchopulmonary dysplasia

Directory of Open Access Journals (Sweden)

Luciana F. Velloso Monte

2005-04-01

Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first

Progression of hip dysplasia in 40 police working dogs: a retrospective study

International Nuclear Information System (INIS)

Zorko, B.; Ivanusa, T.; Pelc, R.

2005-01-01

The aim of the study was to evaluate the effects of progression of CHD and degenerative joint disease on a working capability of population of police working dogs. In the first part of the study, we reviewed the whole health documentation of all dogs and gathered all necessary radiographs of hip joints that were taken at first initial procurement. In the second part, clinical examination and radiographs of all dogs were taken 60 months after first examination and the progression of hip dysplasia was evaluated by the FCI scheme. All dogs were male, 35 German shepherds and 5 Rottweilers. The Norberg-Olsson angle in the first set of radiographs was 105.54 +/- 3.22 deg in 37 dogs without hip dysplasia and 100.17 +/- 2.99 deg in 3 dogs with initial mild dysplasia. In the second set of radiographs taken after 60 months of service the Norberg- Olsson angle was 105.60 +/- 3.67 deg in 23 dogs with no signs of hip dysplasia and 101.62 +/- 4.49 deg in 17 dogs with hip dysplasia. On the first set of radiographs, secondary degenerative changes were found in 3 dogs with initial mild dysplasia (7.5 %) and in 14 dogs (35 %) on second radiographs. The position of the centre of the femoral head on first radiographs was outside of dorsal acetabular rim in 25 (31.25 %) of estimated hip joints (n = 80); at the level of the rim in 30 (37.5 %) and inside in 25 (31.25 %). On second radiographs it was outside in 41 (51.25 %); at the level of the rim in 26 (32.5 %); and inside in 13 (31.25 %) of estimated hip joints. The mean femoral angle of inclination for all 40 dogs was 132.50 +/- 4.39? deg . If it has occured, the increase in degree of hip dysplasia was generally more than one degree. In 57.5 % of cases hip dysplasia was not determined on second radiographs. All dogs with some degree of hip dysplasia were German shepherds, but only one of them had clinical symptoms connected to CHD. The progression of hip dysplasia did not correlate with work period of the dogs, and has no influence on

Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

De Smet, A.A.; Travers, H.; Neff, J.R.

1981-12-01

A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.

Pelvic orientation and assessment of hip dysplasia in adults

DEFF Research Database (Denmark)

Jacobsen, S.; Holm, S.S.; Lund, B.

2004-01-01

on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

Energy Technology Data Exchange (ETDEWEB)

Herman, Thomas E.; McAlister, William H. [Washington University School of Medicine, St. Louis Children' s Hospital, Mallinckrodt Institute of Radiology, St. Louis, MO (United States)

2005-02-01

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. (orig.)

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

International Nuclear Information System (INIS)

Herman, Thomas E.; McAlister, William H.

2005-01-01

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. (orig.)

Ellis Van Creveld syndrome

Directory of Open Access Journals (Sweden)

Shilpy S

2007-05-01

Full Text Available Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.

Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

International Nuclear Information System (INIS)

Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

2004-01-01

We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

International Nuclear Information System (INIS)

Kroepelin, T.; Ziupa, J.; Wimmer, B.

1983-01-01

Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)

Respiratory Phenotypes for Preterm Infants, Children, and Adults: Bronchopulmonary Dysplasia and More.

Science.gov (United States)

Collaco, Joseph M; McGrath-Morrow, Sharon A

2018-05-01

Ongoing advancements in neonatal care since the late 1980s have led to increased numbers of premature infants surviving well beyond the neonatal period. As a result of increased survival, many individuals born preterm manifest chronic respiratory symptoms throughout infancy, childhood, and adult life. The archetypical respiratory disease of prematurity, bronchopulmonary dysplasia, is the second most common chronic pediatric respiratory disease after asthma. However, there are several commonly held misconceptions. These misconceptions include that bronchopulmonary dysplasia is rare, that bronchopulmonary dysplasia resolves within the first few years of life, and that bronchopulmonary dysplasia does not impact respiratory health in adult life. This focused review describes a spectrum of respiratory conditions that individuals born prematurely may experience throughout their lifespan. Specifically, this review provides quantitative estimates of the number of individuals with alveolar, airway, and vascular phenotypes associated with bronchopulmonary dysplasia, as well as non-bronchopulmonary dysplasia respiratory phenotypes such as airway malacia, obstructive sleep apnea, and control of breathing issues. Furthermore, this review illustrates what is known about the potential for progression and/or lack of resolution of these respiratory phenotypes in childhood and adult life. Recognizing the spectrum of respiratory phenotypes associated with individuals born preterm and providing comprehensive and personalized care to these individuals may help to modulate adverse respiratory outcomes in later life.

Acro-mesomelic dysplasia - a new type