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Sample records for epidermolysis bullosa

  1. Acquired epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Maricel Sucar Batista

    2015-12-01

    Full Text Available Epidermolysis bullosa is a group of diseases or skin disorders genetically transmitted and it is characterized by the appearance of bullae, ulcers and skin wounds. It usually appears at birth or in the first months of life. This is a case of a 72-year-old female patient who comes to the dermatology department with skin lesions of 6 months of evolution. A skin biopsy was performed, taking a sample for direct and indirect immunofluorescence. Acquired epidermolysis bullosa of unknown etiology was diagnosed. Treatment was started with low-dose colchicine to increase it later, according to the patient’s tolerance and disease progression.

  2. Genetics Home Reference: epidermolysis bullosa simplex

    Science.gov (United States)

    ... of epidermolysis bullosa simplex . Mutations in another gene, PLEC , have been associated with the rare Ogna type of epidermolysis bullosa simplex . The PLEC gene provides instructions for making a protein called ...

  3. Inherited epidermolysis bullosa

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    Fine Jo-David

    2010-05-01

    Full Text Available Abstract Inherited epidermolysis bullosa (EB encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.

  4. Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.

    Science.gov (United States)

    Boria, F; Maseda, R; Martín-Cameán, M; De la Calle, M; de Lucas, R

    2017-12-01

    Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Care of epidermolysis bullosa in Ireland.

    LENUS (Irish Health Repository)

    Watson, Rosemarie

    2012-02-01

    Advances in the medical care of epidermolysis bullosa (EB) have led to the development of National Service Centers for EB in many countries worldwide. The exemplary model of care to children and adults with EB in the United Kingdom, combined with the knowledge that people with EB were travelling to the United Kingdom for treatment, encouraged the development of the Irish national service. Dystrophic Epidermolysis Bullosa Research Association of Ireland, founded in 1988 played a pivotal role in this development.

  6. Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

    NARCIS (Netherlands)

    van den Akker, Peter C.; Nijenhuis, Albertine; Hofstra, Robert M. W.; Jonkman, Marcel F.; Pasmooij, Anna M. G.; Meijer, G.

    Background: Dystrophic epidermolysis bullosa is a genetic blistering disorder caused by mutations in the type VII collagen gene, COL7A1. In revertant mosaicism, germline mutations are corrected by somatic events resulting in a mosaic disease distribution. This "natural gene therapy" phenomenon long

  7. Revertant cell therapy for epidermolysis bullosa

    NARCIS (Netherlands)

    Gostynski, Antoni

    2014-01-01

    Epidermolysis bullosa (EB) is an inherited skin disease. Patients have lifelong fragile skin leading to chronic blistering of the skin and mucosa. Children born with EB are called Butterfly Children, because their skin is as fragile as the wings of a butterfly. Presently, the disease has no cure. In

  8. Recessive Epidermolysis Bullosa simplex- A case report

    African Journals Online (AJOL)

    Ademu

    Abstract: Background:Epidermolysis bullosa simplex (EBS) is characterized by intraepidermal blister formation, most commonly appearing in early infancy. Many variants of EBS exist; the four most common variants are inherited in an autosomal dominant fashion. The recessive forms are rare and less reported in our ...

  9. Junctional epidermolysis bullosa(non-herlitz type)

    International Nuclear Information System (INIS)

    Bhinder, M. A.; Arshad, M. W.; Shabbir, M. I.; Zahoor, M. Y.; Shehzad, W.; Tariq, M.

    2017-01-01

    Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. He has mitten-like hands and soft skin blistering on hands, legs and knees. Symptoms almost disappeared at the age of 3 years but reappeared with increased severity after 6 months. Histopathological examination showed epidermal detachment with intact basal cell layer and sparse infiltrate of lymphocytes with few eosinophils in the dermis. There was no blistering on the moist lining of the mouth and digestive tract. Localized symptoms with less lethality and histopathological examination indicated the presence of non-Herlitz type of JEB. This is the first report which confirms the presence of non-Herlitz junctional epidermolysis bullosa in Pakistan. (author)

  10. Junctional Epidermolysis Bullosa (Non-Herlitz Type).

    Science.gov (United States)

    Bhinder, Munir Ahmad; Arshad, Muhammad Waqar; Zahoor, Muhammad Yasir; Shehzad, Wasim; Tariq, Muhammad; Shabbir, Muhammad Imran

    2017-05-01

    Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. He has mitten-like hands and soft skin blistering on hands, legs and knees. Symptoms almost disappeared at the age of 3 years but reappeared with increased severity after 6 months. Histopathological examination showed epidermal detachment with intact basal cell layer and sparse infiltrate of lymphocytes with few eosinophils in the dermis. There was no blistering on the moist lining of the mouth and digestive tract. Localized symptoms with less lethality and histopathological examination indicated the presence of non-Herlitz type of JEB. This is the first report which confirms the presence of non-Herlitz junctional epidermolysis bullosa in Pakistan.

  11. Revisited diagnostics of hereditary epidermolysis bullosa

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    V. I. Albanova

    2014-01-01

    Full Text Available Hereditary epidermolysis bullosa is a big group of hereditary diseases with the main manifestations in the form of blisters on the skin and mucous coat after slight mechanical injuries. It is not always possible to diagnose this disease based on the clinical picture. The article discusses current laboratory diagnostics methods for hereditary epidermolysis bullosa including immunofluorescence antigen mapping (IFM, transmission electron microscopy (TEM and genetic analysis (molecular or DNA diagnostics as well as their advantages and disadvantages. TEM determines the micro splitting level and nature of ultrafine changes in the area of the dermoepidermal junction; at the same time, such tests need special expensive equipment. Substantial experience is also needed to analyze the resulting submicroscopic images. IFM determines whether expression of the affected protein related to the disease development is reduced or absent; however, invalid (false positive or false negative results can be obtained in patients with the reduced expression of the affected protein. Genetic analysis plays a key role for prenatal diagnostics. Therefore, to make an exact diagnosis of hereditary epidermolysis bullosa, it is expedient to apply IFM, TEM and genetic analysis. The need to set an exact diagnosis of the disease is related to the fact that the promising treatment methods being currently developed are aimed at treating patients with certain forms of the disease.

  12. Nutrition for children with epidermolysis bullosa.

    Science.gov (United States)

    Haynes, Lesley

    2010-04-01

    Optimization of resistance to infection, growth, sexual maturation, wound healing, and provision of the best possible overall quality of life are important management goals in children with epidermolysis bullosa. However, all these goals rely on the maintenance of optimal nutritional status, and achieving this is extremely challenging in the severe types of the disease. Strategies to improve nutritional status have the best chance of success when the dietitian or nutritionist works as an integral member of the multidisciplinary team and is well informed of patients' situations, family dynamics, and prognoses. Even the best-coordinated dietetic interventions may exert only limited impact. Copyright 2010 Elsevier Inc. All rights reserved.

  13. Squamous cell carcinoma complicating an hereditary epidermo-lysis bullosa

    International Nuclear Information System (INIS)

    Mseddi, M.; Turki, H.; Marrekchi, S.; Abdelmaksoud, W.; Masmoudi, A.; Bouassida, S.; Zahaf, A.

    2004-01-01

    The dystrophic form of hereditary epidermo-lysis bullosa is associated with an increased frequency of squamous cell carcinoma. We report a new case. An 18-year-old patient, carrying a Hallopeau Siemens hereditary epidermo-lysis bullosa, presented a subcutaneous nodular lesion, for 1 year that ulcerated and budded with inguinal lymphadenopathy. The histological study ted to the conclusion of a well differentiated squamous cell carcinoma. The patient was treated surgically. Tumor and metastatic lymph nodes were excised. A radiotherapy was decided but the postoperative course was fatal due to an infection and to a deterioration of her general condition. Squamous cell carcinoma frequently occurs on the cicatricial lesion of hereditary epidermo-lysis bullosa and usually affects males with recessive hereditary epidermo-lysis bullosa. Metastases are frequent, precocious and multiple. The treatment may be surgical. The particularities of our observation are the young age of patient and the localization. (author)

  14. Dystrophic epidermolysis bullosa in a child

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    Uma Eswara

    2012-01-01

    Full Text Available Epidermolysis Bullosa (EB is a form of severe skin adhesion defect due to the disruption of the dermal- epidermal junction. It is classified into simplex and dystrophic forms depending on the level at which the junction is compromised. Repeated ulcerations and bullae formation in the mouth lead to scarring that brings about various changes in the oral cavity. These include loss of sulcular depth, ankyloglossia, limited mouth opening and other dentoalveolar changes. At present while there is no cure for EB, the therapeutic approaches are essentially aimed at controlling the infections and maintaining an acceptable quality of life. Dental management should aim at maintaining a functional dentition that would help in mastication and favour nutrition. Oral manifestations and dental management in a child diagnosed with dystrophic EB since birth are presented here.

  15. Nutritional support for children with epidermolysis bullosa.

    Science.gov (United States)

    Haynes, Lesley

    Epidermolysis bullosa (EB) comprises a rare group of genetically determined skin blistering disorders characterized by extreme fragility of the skin and mucous membranes, with recurrent blister formation. The cornerstones of management are control of infection, wound management, pain relief, promotion of optimal nutritional status and mobility, surgical intervention and provision of the best possible quality of life. There is currently no cure for EB and, throughout life, those with the more severe types are at risk of significant nutritional compromise which impacts negatively on health and overall quality of life. Nutritional support is an important facet of holistic care and the dietetic challenges can be considerable. This paper describes some of the issues involved in optimizing the nutritional status of children with this disorder.

  16. Dental management of patients with epidermolysis bullosa.

    Science.gov (United States)

    Dağ, Canan; Bezgin, Tuğba; Özalp, Nurhan

    2014-09-01

    Epidermolysis Bullosa (EB) is a group of rare, genetic skin disorders characterized by fragility and blistering to minimal trauma. All oral surfaces may be involved, including the tongue, buccal mucosa, palate, floor of the mouth and gingiva. Common oral findings of the disease include microstomia, intraoral ulcerations and bullae formation, ankyloglossia, tongue atrophy, elimination of buccal and vestibular sulci, lingual depapillation and atrophy of the palatal folds. In these case reports; systemic findings, oral manifestations and preventive measures are described for 3 patients with EB, all of whom required extensive oral management. Early dental management and preventive care to minimize caries development and improve oral health is very important for patients with EB. Pediatric dentists play an especially important role in early intervention. In describing the dental management of three EB cases, this article stresses the importance of an aggressive dental preventive programme with strict oral hygiene instructions for patients and parents along with frequent professional cleaning and fluoride therapy.

  17. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex.

    Science.gov (United States)

    Scheidt, Lisa; Sanabe, Mariane Emi; Diniz, Michele Baffi

    2015-01-01

    Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following minimal friction. Recurrent blisters and vesicle formation on the hard palate were the main oral findings. In conclusion, publications concerning the oral and clinical manifestations of EBS are important for providing knowledge and an early multidisciplinary approach that prevents blister formation and improves these patients' quality of life, with the dentist playing an important role in oral health management. How to cite this article: Scheidt L, Sanabe ME, Diniz MB. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. Int J Clin Pediatr Dent 2015;8(3):239-241.

  18. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

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    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  19. [Aplasia cutis congenita associated with epidermolysis bullosa].

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    Muñoz-Guerrero, Félix; Muñoz-Solís, Adrián Antonio; Ornelas-Aguirre, José Manuel

    2017-12-01

    Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum. It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up. ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  20. Children with Rare Chronic Skin Diseases: Hemangiomas and Epidermolysis Bullosa.

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    Jones, Sheila Dove; Miller, Cynthia Dieterich

    The paper reports on studies involving children having the rare chronic skin diseases of hemangiomas and epidermolysis bullosa (characterized by easy blistering). One study compared the self-concept and psychosocial development of young (mean age 46 months) children (N=19) with hemangiomas with 19 children without hemangiomas. Findings indicated…

  1. Stem Cell-Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2014-10-01

    of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells 2011, 29:900–906. 18. Di Nicola M...promotes cardiogenic gene expression in mesenchymal stem cells. Stem Cell Res Ther 2013, 4:43. 57. Herrmann JL, Wang Y, Abarbanell AM, Weil BR, Tan J

  2. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature ... skin over the right leg from the knee joint up to the middle of the right foot. ... Examination indicated no signs of child abuse; the parents refused an ...

  3. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

    NARCIS (Netherlands)

    Jonkman, MF; Scheffer, H; Stulp, R; Pas, HH; Nijenhuis, Albertine; Heeres, K; Owaribe, K; Pulkkinen, L; Uitto, J

    1997-01-01

    Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene

  4. Inherited epidermolysis bullosa : Updated recommendations on diagnosis and classification

    NARCIS (Netherlands)

    Fine, Jo-David; Bruckner-Tuderman, Leena; Eady, Robin A. J.; Bauer, Eugene A.; Bauer, Johann W.; Has, Cristina; Heagerty, Adrian; Hintner, Helmut; Hovnanian, Alain; Jonkman, Marcel F.; Leigh, Irene; Marinkovich, M. Peter; Martinez, Anna E.; McGrath, John A.; Mellerio, Jemima E.; Moss, Celia; Murrell, Dedee F.; Shimizu, Hiroshi; Uitto, Jouni; Woodley, David; Zambruno, Giovanna

    Background: Several newtargeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several

  5. Genetics Home Reference: dystrophic epidermolysis bullosa

    Science.gov (United States)

    ... fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as ... M, Favia G, Serpico R. Oro-dental manifestations in Hallopeau-Siemens-type recessive dystrophic epidermolysis ...

  6. Main problems experienced by children with epidermolysis bullosa : A qualitative study with semi-structured interviews

    NARCIS (Netherlands)

    van Scheppingen, Corinne; Lettinga, Ant T.; Duipmans, Jose C.; Maathuis, Care G. B.; Jonkman, Marcel F.

    2008-01-01

    The objective of this study was to identify and specify the problems of children with epidermolysis bullosa. The questions explored were: (i) What do children with epidermolysis bullosa experience as the most difficult problems; (it) What is the impact of these problems on their daily life; and

  7. Kindler syndrome - a rare type of hereditary epidermolysis bullosa

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    V. I. Albanova

    2015-01-01

    Full Text Available The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

  8. X-linked ichthyosis along with epidermolysis bullosa

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    Shambulingappa Pallagatti

    2012-01-01

    Full Text Available Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation.In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

  9. Epidermolysis bullosa of the esophagus: A case report

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    Radić Maja

    2015-01-01

    Full Text Available Introduction. Epidermolysis bullosa is a rare skin disease which could be hereditary or acquired with autoimmune mechanism. Even though it is known that epidermolysis bullosa appears on various mucosa, the esophagus is seldom affected. Case report. We reported 19-year-old female patient who had been admitted due to dysphagia and odynophagia to solid food. Erythematous changes with bullae and excoriations could be found on the hands, feet, elbows and knees. The patient underwent barium swallow which revealed retaining of contrast in the valleculas and piriform recesses, as well as dilatation of meso- and hypopharynx - upper achalasia syndrome. The cause was stenosis at the level of upper functional sphincter of the esophagus, 10 mm in length with benign apperance. Small leakage of contrast into the trachea was visible at the later stage of examination, concomitant with volume load of the pharynx. Bullae were not detected. The whole esophagus was fairly uniformly stenotic and had fibrotic appearance. Conclusion. The authors emphasize that barium swallow can provide sufficient information regarding stenosis, dynamics of the disorder, as well as the stage of the disease. Furthermore, we highlight the importance of providing a complete diagnostic strategy in all dermatology patients who could simultaneously have mucous changes.

  10. Junctional epidermolysis bullosa incidence and survival: 5-year experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator, 2007 to 2011.

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    Kelly-Mancuso, Geraldine; Kopelan, Brett; Azizkhan, Richard G; Lucky, Anne W

    2014-01-01

    Junctional epidermolysis bullosa (JEB) is a particularly devastating type of epidermolysis bullosa, especially in the newborn period. Data about the number of new cases of JEB in the United States were collected from the records of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) nurse educator. Seventy-one children with JEB were reported to have been born in the 5 years between 2007 and 2011, reflecting an incidence of at least 3.59 per million per year, significantly higher than previously estimated (2.04 per million). There was a high prevalence of morbidity and infant mortality of at least 73%, as 52 of the 71 cases proved fatal by June 2012. These data emphasize the need for future research to develop treatment and ultimately a cure for this disorder. © 2013 Wiley Periodicals, Inc.

  11. Oral health status in children with inherited dystrophic epidermolysis bullosa

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    Čolović Aleksandra

    2017-01-01

    Full Text Available Background/Aim. Epidermolysis bullosa is a group of rare, genetic connective tissue diseases that cause blisters in the skin and mucosal membranes. The aim of this study was to evaluate the oral health status of patients with epidermolysis bullosa dystrophica and level of knowledge and opinion of parents about the implementation of preventive measaures and quality of dental care of affected children. Methods. This study included a group of 17 patients from Serbia suffering from dystrophic epidermolysis bullosa and matched control group. Dental caries status was assessed using the Klein-Palmer index. Oral hygiene status was verified with oral hygiene indices, simplified plaque index, and calculus index as described by Green and Vermillion. The gingiva was assessed as healthy or inflamed (gingivitis on the basis of any changes in color, shape, size and surface texture. The condition of oral mucosa has been registered on the basis of inspection of the lips, tongue, a floor of the mouth, mouth vestibule and palate. The level of knowledge and the impressions of parents about the application of preventive measures were investigated through two questionnaires specifically designed for this study. Results. In both dentitions, there was the highest percentage of caries teeth. In primary dentition average value of the modified plaque index was 1.4 ± 1.14 and modified calculus was 0.7 ± 1. On permanent teeth average plaque index was 2 ± 0.4, and average calculus 1.6 ± 0.6. Statistically, significant higher values were found in permanent dentition in percentage distribution of decayed, missing, filled teeth and also for plaque and calculus indices between affected children and the control group. Most common findings on mucosa were microstomia (76.5% and ankyloglossia (88.2%. Conclusion. The absence of protocol between the treating physician and the dentist and not sufficiently informed parents are leading to inadequate dental care. The implementation of

  12. Epidermolysis bullosa, dental and anesthetic management: a case report.

    Science.gov (United States)

    Esfahanizade, Katayoun; Mahdavi, Ali Reza; Ansari, Ghassem; Fallahinejad Ghajari, Masoud; Esfahanizadeh, Abdolreza

    2014-09-01

    Epidermolysis bullosa (EB) is a group of rare inherited skin and mucous membrane disorders in which blister formation may arise spontaneously or following a minor friction. Various patterns of inheritance are explicated for the disease. The disease has a profound effect on oral mucosa and may result in high prevalence of dental caries. General anesthesia is sometimes the only choice for dental treatments in patients with EB. The following case report describes the dental and anesthetic management of an 12.5 -year-old girl with dystrophic type of EB. The patient was followed up every 6 months. New carious lesions were detected one year after the treatment, on the last visit. Presenting a perfect dental care to children with this disorder can be challenging for the in charge specialist, both pediatric dentist and anesthesiologist.

  13. Management of digestive lesions associated to congenital epidermolysis bullosa

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    Jamila Chahed

    2015-01-01

    Full Text Available Background: Congenital epidermolysis bullosa (CEB is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA and oesophageal stenosis (OS are considered the most serious digestive lesions to occur.The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature. Patients and Methods: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia. Results: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with afavourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment. Conclusion: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms.

  14. Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa

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    Susanna Esposito

    2016-09-01

    Full Text Available In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1 desmoglein 3 (DSG3, bullous pemphigoid 180 (BP180, BP230 and type VII collagen (COL7, respectively. The same trend was observed for interleukin (IL-1β, IL-2, IL-6, IL-10, tumor necrosis factor-β, and interferon-γ (p < 0.001, p < 0.001, p < 0.001, p = 0.008, p < 0.001 and p = 0.002, respectively. Increases in anti-skin antibodies and cytokine concentrations were higher in patients with recessive dystrophic EB than in those with different types of EB, in generalized cases than in localized ones, and in patients with higher Birmingham Epidermolysis Bullosa Severity (BEBS scores than in those with a lower score. The BEBS score was directly correlated with BP180, BP230, COL7 (p = 0.015, p = 0.008 and p < 0.001, respectively and IL-6 (p = 0.03, whereas IL-6 appeared significantly associated with DSG1, DSG3, BP180, BP230 and COL7 (p = 0.015, p = 0.023, p = 0.023, p = 0.015 and p = 0.005, respectively. This study showed that autoimmunity and inflammatory responses are frequently activated in EB, mainly in severe forms, suggesting the use of immunosuppressive drugs or biologicals that are active against pro-inflammatory cytokines to reduce clinical signs and symptoms of disease.

  15. Nitrous oxide for procedural analgesia at home in a child with epidermolysis bullosa.

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    Ingelmo, Pablo; Wei, Andrew; Rivera, Gonzalo

    2017-07-01

    Epidermolysis bullosa comprises a range of conditions characterized by fragile skin with painful blistering induced by minor trauma and friction. The Dowling-Meara variant is a severe form characterized by disseminated painful blistering requiring lifelong skin and wound care. The natural history of the disease is characterized by a chronic course that tends to improve with advancing age. Various multimodal analgesic strategies have been proposed for painful procedures in children with epidermolysis bullosa. In this case report, we describe the use of nitrous oxide for pain control at home of blister treatments in a 4-year-old child with the Dowling-Meara variant. © 2017 John Wiley & Sons Ltd.

  16. Hereditary epidermolysis bullosa. Dental management of three cases.

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    Serrano Martínez, C; Silvestre Donat, F J; Bagán Sebastián, J V; Peñarrocha Diago, M; Alió Sanz, J J

    2001-01-01

    Hereditary epidermolysis bullosa (EB) is a mucocutaneous disorder characterized by the appearance of blisters and vesicles in response to minimum friction. The digestive mucosa is one of the most frequently affected regions--including the oral mucosa. Three types of EB have been established according to the histological level of the lesion. Thus, simple EB involves intraepidermal bullae that leave no scars, while junctional EB exhibit blisters between the lamina lucida and lamina densa of the basal membrane. These lesions heal leaving atrophy and involve important hypoplastic lesions in the dental enamel. In turn, dystrophic EB presents synechiae-forming subepidermal blisters--the recessive form being the variant involving the greatest oral lesions (microstomia, ankyloglossia, milium cysts and rampant caries). Three cases of EB are presented and their clinical-dental management difficulties are described. The oral manifestations are described, along with the dental treatments provided and the evolution of the periodontal indices over a two-year period following the application of hygiene-preventive and therapeutic measures.

  17. Inherited epidermolysis bullosa: an update and suggested dental care considerations.

    Science.gov (United States)

    Feijoo, Javier F; Bugallo, Juan; Limeres, Jacobo; Peñarrocha, David; Peñarrocha, Miguel; Diz, Pedro

    2011-09-01

    Epidermolysis bullosa (EB) is a skin disease characterized by epithelial fragility that leads to blistering and erosion of the skin and mucosae. The authors conducted a literature review to provide an update on oral manifestations and dental care of patients with EB. Literature Search. The authors reviewed the dental literature on EB in relation to clinical findings and provision of dental care. They searched textbooks and three databases: MEDLINE, Cochrane Library and Embase. The authors did not impose any date or publication status restrictions. They searched all databases up to August 2010. The literature review revealed that four major groups and 32 subtypes of EB can be distinguished on the basis of the ultrastructural characteristics of skin cleavage, genetic mode of transmission and clinical phenotype. Oral manifestations differ in frequency and severity according to the disease subtype, but the most common are bullae, which leave painful ulcers on rupture, followed by scarring and tissue contraction. Although good oral health status is essential to maintaining oral function, dental treatment can induce new lesions and be hindered by the sequelae of existing lesions. Dental treatment in patients with EB requires a multidisciplinary approach. Dental procedures must be minimally traumatic, and the effectiveness of treatment is determined mainly by the patient's general health, cooperation in the dental office and at home, oral hygiene and diet.

  18. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa

    NARCIS (Netherlands)

    Yuen, W. Y.; Duipmans, J. C.; Molenbuur, B.; Herpertz, I.; Mandema, J. M.; Jonkman, M. F.

    Background Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a rare, autosomal recessive disease caused by absence of the epidermal basement membrane adhesion protein laminin-332. It is characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death

  19. The main problems of parents of a child with epidermolysis bullosa

    NARCIS (Netherlands)

    van Scheppingen, Corinne; Lettinga, Ant T.; Duipmans, Jose C.; Maathuis, Karel G. B.; Jonkman, Marcel F.

    Epidermolysis Bullosa (EB) is a rare genetic blistering- skin disorder with varying degrees of severity, ranging from mild forms to severe forms, with chronic progression. The aim of this study was to identify and specify the problems of parents of a child with EB. Qualitative research methodology

  20. Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

    Directory of Open Access Journals (Sweden)

    A P Javed

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia. Amelogenesis imperfecta presents with abnormal formation of the enamel both in deciduous and permanent dentition. This article describes a previously unreported case of Amelogenesis imperfecta with complete loss of enamel in a young female patient with EB.

  1. Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.

    Science.gov (United States)

    Thevenon, André; Preud'homme, Marguerite; Patenotre, Philippe; Catteau, Benoit; Blanchard-Dauphin, Anne; Wieczorek, Valérie; Tiffreau, Vincent

    2016-10-12

    Dystrophic epidermolysis bullosa is a rare disease characterized by widespread blistering of the skin and mucous membranes, which may ultimately prompt limb amputation. In this context, the outcome of fitting a prosthesis to a chronically wounded stump is not well known. Our patient's experience (with 15 years of follow-up) should contribute to better knowledge of this topic. A 37-year-old man presented with severe dystrophic epidermolysis bullosa. Recurrent skin carcinoma had led to an amputation below the knee. Despite incessant development of blisters on the stump and the need for wound dressing and padding, the patient has been able to walk freely with a prosthesis and a cane. A large number of skin sarcomas were excised over the 15-year period of prosthesis use. Two falls have resulted in limb fractures. A new sarcoma on the stump marked the end of the use of the prosthesis. Despite the constant presence of wounds on the stump, amputees with dystrophic epidermolysis bullosa can successfully be fitted with a prosthesis.

  2. Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation

    NARCIS (Netherlands)

    Koss-Harnes, D; Hoyheim, B; Jonkman, MF; De Groot, WP; De Weerdt, CJ; Nikolic, B; Wiche, G; Gedde-Dahl, T

    Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy. A dominant mutation in the gene was found to cause epidermolysis bullosa simplex Ogna

  3. Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008.

    Science.gov (United States)

    Goldschneider, Kenneth; Lucky, Anne W; Mellerio, Jemima E; Palisson, Francis; del Carmen Viñuela Miranda, Maria; Azizkhan, Richard G

    2010-09-01

    Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre-, intra-, and postoperative challenges. While anesthesiologists have long appreciated the potential difficult intubation in patients with EB, other systems can be affected by this disorder. Hematologic, cardiac, skeletal, gastrointestinal, nutritional, and metabolic deficiencies are foci of preoperative medical care, in addition to the airway concerns. Therefore, multidisciplinary planning for operative care is imperative. A multinational, interdisciplinary panel of experts assembled in Santiagio, Chile to review the best practices for perioperative care of patients with EB. This paper presents guidelines that represent a synthesis of evidence-based approaches and the expert consensus of this panel and are intended to aid physicians new to caring for patients with EB when operative management is indicated. With proper medical optimization and attention to detail in the operating room, patients with EB can have an uneventful perioperative course.

  4. Balloon dilatation in esophageal strictures in epidermolysis bullosa and the role of anesthesia.

    Science.gov (United States)

    Gollu, Gulnur; Ergun, Ergun; Ates, Ufuk; Can, Ozlem S; Dindar, Huseyin

    2017-02-01

    Esophageal involvement, which causes stricture, is a complication in epidermolysis bullosa. This causes dysphagia and malnutrition and leads to deterioration of skin lesions in these patients. The charts of 11 patients with epidermolysis bullosa and esophageal stricture who were included into dilatation program between 2003 and 2015 were retrospectively reviewed. Seven of the patients were female and four were male. The median age was 14 (2-32) years. The mean body weight of patients was 27.8 (9-51) kg. The location and number of strictured parts of the esophagus were previously evaluated with upper gastrointestinal contrast study and after that flexible endoscopy was used for dilatation. Eight patients had middle esophageal, three patients had proximal esophageal and one of them had both proximal and middle esophageal strictures. The strictures were dilated 56 times in total (mean 5 times). One patient underwent gastrostomy and was medically followed-up after a perforation occurrence during the dilatation procedure. In a 32-year-old female patient, colon interposition was performed after four dilatations since optimal nutritional and developmental status could not be achieved. The dilatation program of nine patients is still in progress. Seven of them can easily swallow solid food but two of them have some difficulties in swallowing between dilatations. One patient rejected the program and quitted, while one patient refused colon interposition and died because of complications related to amyloidosis during the dilatation program. After resolution of the swallowing problem, skin lesions were observed to heal quickly. Epidermolysis bullosa is a rare cause of dysphagia. Esophageal balloon dilatation with flexible endoscopy is a safe and efficient method in patients with this condition. © 2016 International Society for Diseases of the Esophagus.

  5. A Simple Method for Prosthodontic Rehabilitation of Edentulous Patient with Epidermolysis Bullosa: A Clinical Case Report

    Directory of Open Access Journals (Sweden)

    Farhang Mahboub

    2011-06-01

    Full Text Available An abnormally small oral orifice is defined as microstomia. Microstomia may result from epidermolysis bullosa (EB, which consists of a group of disorders characterized by the presence of mechanical fragility of the skin with recurrent development of blisters and vesicles, resulting from minor mechanical friction or trauma. Since such patients have a small oral aperture, it may be impossible to take impression and fabricate dentures using conventional methods. In this article, a simple method for taking preliminary impressions from upper and lower edentulous ridges in one patient with limited mouth opening and then preparing the complete denture with custom denture teeth in a single unit was described.

  6. Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa

    NARCIS (Netherlands)

    Yuen, Wing Yan; Huizinga, Janneke; Jonkman, Marcel F.

    Background: Epidermolysis bullosa (EB) is a genetic, heterogeneous, trauma-induced blistering disease. Patients with laminin-332-deficient non-Herlitz junctional EB (JEB-nH) can have impaired wound healing witnessed by persistent, small, deep ulcers on the hands and feet that adversely affect the

  7. Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2002-10-01

    Full Text Available O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5 e 14 (gen KRT14, o que modifica o citoesqueleto na camada basal da epiderme, levando à degeneração dessa camada, formando bolha intra-epidérmica. Mutações na plectina (gen PLEC1, componente da placa interna do hemidesmossoma, levam também à clivagem intra-epidérmica. Na epidermólise bolhosa juncional vários gens estão envolvidos, em decorrência da complexidade da zona da membrana basal, todos levando ao descolamento dos queratinócitos basais na lâmina lúcida, pela disfunção da aderência entre esses e a lâmina densa. Alterações na laminina 5 (gens LAMA3, LAMB3 e LAMC2, integrina alfa6beta4 (gens ITGA6 e ITGB4 e colágeno XVII (gen COL17A1 foram descritas. Por fim, na epidermólise bolhosa distrófica apenas um gen está mutado, alterando o colágeno VII (gen COL7A1, principal componente das fibrilas ancorantes, produzindo clivagem abaixo da lâmina densa, variando fenotipicamente de acordo com a conseqüência da mutação. Outra aplicação importante dessas informações refere-se ao diagnóstico pré-natal, com a perspectiva no futuro da terapia gênica.New data regarding the molecular aspects of the heterogeneous group of epidermolysis bullosa has brought some important information about its pathogenesis. In epidermolysis bullosa simplex the majority of mutations are localized in the genes of the basal cytokeratin 5 (gene KRT5 and 14 (gene KRT14, cytolysis at this layer with intraepidermal blister is seen under light microscopy. Mutations of plectin (gene PLEC1, a protein found in the inner hemidesmosomal plaque, leads also to intraepidermal blisters. In junctional epidermolysis bullosa many proteins from the basal membrane zone are involved, such as laminin 5 (genes

  8. Anesthetic Approach to a Patient with Epidermolysis Bullosa: A Case Report

    Directory of Open Access Journals (Sweden)

    Ersin KOKSAL

    2015-09-01

    Full Text Available Epidermolysis Bullosa (EB is characterized by fragility and formation of blisters in the skin and mucosal membranes. Due to blisters on the airway and occurring new blisters as a result of anesthetic or surgical procedures may complicate anesthesia management. In this case report, we present the anesthetic approach of a 6 years old case with EB who underwent reconstructive surgery. After premedication and optimal monitorization, intravenous (IV anesthesia and analgesia was administered. Associated with the oropharyngeal lesions and limitation to reach an adequate mouth opening, we preferred the facemask to maintain ventilation. Neither new lesions nor complications were detected during or after surgery. [J Contemp Med 2015; 5(3.000: 192-195

  9. Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy

    Directory of Open Access Journals (Sweden)

    S. Kavaklieva

    2013-08-01

    Full Text Available The acral peeling skin syndrome (APSS is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.

  10. Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.

    Science.gov (United States)

    Kavaklieva, S; Yordanova, I; Bruckner-Tuderman, L; Has, C

    2013-01-01

    The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.

  11. Epidermolysis Bullosa

    Science.gov (United States)

    ... this research; and the dissemination of information on research progress in these diseases. Contact Us NIAMS Archive Viewers and Players Social Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy ...

  12. Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice.

    Science.gov (United States)

    Schönig, Sarah; Recke, Andreas; Hirose, Misa; Ludwig, Ralf J; Seeger, Karsten

    2013-06-26

    Epidermolysis bullosa acquisita (EBA) is a rare skin blistering disease with a prevalence of 0.2/ million people. EBA is characterized by autoantibodies against type VII collagen. Type VII collagen builds anchoring fibrils that are essential for the dermal-epidermal junction. The pathogenic relevance of antibodies against type VII collagen subdomains has been demonstrated both in vitro and in vivo. Despite the multitude of clinical and immunological data, no information on metabolic changes exists. We used an animal model of EBA to obtain insights into metabolomic changes during EBA. Sera from mice with immunization-induced EBA and control mice were obtained and metabolites were isolated by filtration. Proton nuclear magnetic resonance (NMR) spectra were recorded and analyzed by principal component analysis (PCA), partial least squares discrimination analysis (PLS-DA) and random forest. The metabolic pattern of immunized mice and control mice could be clearly distinguished with PCA and PLS-DA. Metabolites that contribute to the discrimination could be identified via random forest. The observed changes in the metabolic pattern of EBA sera, i.e. increased levels of amino acid, point toward an increased energy demand in EBA. Knowledge about metabolic changes due to EBA could help in future to assess the disease status during treatment. Confirming the metabolic changes in patients needs probably large cohorts.

  13. [Anaesthetic management in a paediatric patient with a difficult airway due to epidermolysis bullosa dystrophica].

    Science.gov (United States)

    Blázquez Gómez, E; Garcés Aletá, A; Monclus Diaz, E; Manen Berga, F; García-Aparicio, L; Ontanilla López, A

    2015-05-01

    Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by blistering after minimal trauma. These blisters tend to form dystrophic scars, leading to limiting and life-threatening sequelae. The anaesthetic management of patients with DEB is a challenge, even for the most experienced anaesthesiologists, but basic principles can help us prepare the plan of care. The main goals are to prevent trauma/infection of skin/mucous, and to establish a secure airway without causing bullae. Patient positioning and the instruments used to monitor vital signs and administering anaesthetic agents can cause new lesions. It is advisable to lubricate the instruments and to avoid adhesive material and shearing forces on the skin. Besides the implications of the comorbidities, there is a potential difficult intubation and difficult vascular access. Acute airway obstruction can occur due to airway instrumentation. We report the case of a patient diagnosed with EBD difficult airway and undergoing correction of syndactylyl and dental extractions. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Er:YAG Laser Dental Treatment of Patients Affected by Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Angela Galeotti

    2014-01-01

    Full Text Available Aim. The purpose of this study was to evaluate the efficacy of Er:YAG laser used for treating hard dental tissue in patients with epidermolysis bullosa (EB. Methods. We report two cases of EB in which an Er:YAG laser was used for conservative treatments. In the first case, the Er:YAG laser (2,940 μm, 265 mJ, 25 Hz was used to treat caries on a deciduous maxillary canine in an 8-year-old male patient affected by dystrophic EB. In the second case, we treated a 26-year-old female patient, affected by junctional EB, with generalized enamel hypoplasia, and an Er:YAG laser (2,940 μm, 265 mJ, 25 Hz was used to remove the damaged enamel on maxillary incisors. Results. The use of the Er:YAG laser, with the appropriate energy, was effective in the selective removal of carious tissue and enamel hypoplasia. During dental treatment with the Er:YAG laser, patients required only a few interruptions due to the absence of pain, vibration, and noise. Conclusions. Laser treatment of hard dental tissues is a valuable choice for patients affected by EB since it is less invasive compared to conventional treatment, resulting in improved patient compliance.

  15. Clinical application of amniotic membranes on a patient with epidermolysis bullosa.

    Science.gov (United States)

    Martínez Pardo, M E; Reyes Frías, M L; Ramos Durón, L E; Gutiérrez Salgado, E; Gómez, J C; Marín, M A; Luna Zaragoza, D

    1999-01-01

    The case of a patient with dystrophic epidermolysis bullosa treated with radiosterilised amniotic membranes is presented. The disorder is a congenital disease characterised by a poor desmosomal junction in the keratinocyte membrane. After proper donor screening, amnios were collected at Hospital Central Sur de Alta Especialidad (HCSAE), PEMEX and microbiological analysis was performed at Universidad Nacional Autónoma de México, FQUNAM, (Biology Dept. of the Chemistry Faculty, National Autonomous University of Mexico), before and after radiation sterilisation. Processing, packaging and sterilisation were performed at Instituto Nacional de Investigaciones Nucleares, ININ, (National Nuclear Research Institute). The patient, a ten-year-old boy with severe malnutrition, extensive loss of skin and pseudomonad infection in the whole body, was treated with gentle debridement in a Hubbard bath. Later amnion application was performed with sterilised amnios by using two different processes, in one of which the amnion was sterilised with paracetic acid, preserved in glycerol, kindly donated by the German Institute for Tissue and Cell Replacement and applied by Dr. Johannes C. Bruck, IAEA visiting expert, and the other amnion was processed at ININ: air dried and sterilised by gamma radiation at dose of 30 kGy. After spontaneous epithelisation was successfully promoted for seven days, the pain was alleviated and mobility was improved in a few hours and the patient's general condition was so improved that in a month he was discharged. Unfortunately, because this disease is revertive and has malignant degeneration, the prognosis is not good.

  16. Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Minhee Kim, MBBS

    2016-06-01

    Full Text Available Epidermolysis bullosa (EB is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic. Subsequently, she was commenced on colchicine 500 μg daily on the basis that it may inhibit cell proliferation and be anti-inflammatory. After a 6-month trial of colchicine, she had an objective and subjective improvement in her validated EB Disease Activity and Scarring Index activity and damage scores and Quality Of Life in EB score with less skin erosions, granulation tissue, and erythema. In addition, her anemia resolved. She denied any gastrointestinal side effects. The exact mechanism of colchicine in assisting reduction of the blistering, erosions, and granulation in JEB is unclear, but the anti-inflammatory and antimitotic properties of colchicine may be partially responsible for this process.

  17. Epidermolysis bullosa acquisita: clinical manifestations, microscopic findings, and surgical periodontal therapy. A case report.

    Science.gov (United States)

    Hakki, S S; Celenligil-Nazliel, H; Karaduman, A; Usubütün, A; Ertoy, D; Ayhan, A; Ruacan, S

    2001-04-01

    Epidermolysis bullosa acquisita (EBA) is an uncommon, acquired, chronic subepidermal bullous disease. This report describes a case of EBA with gingival involvement. A 43-year-old woman with EBA was referred to our clinic for periodontal therapy because of gingival tenderness and bleeding. She has been on cyclosporin A therapy for the last 2 years. Clinical findings were analyzed. Anterior gingivectomy operations were performed in 2 stages. The samples obtained during the surgery were examined using histopathologic, immunohistologic, and electronmicroscopic methods. Long-term effects of the surgical periodontal treatment on gingiva were evaluated both clinically and microscopically. The dentition displayed minimal enamel hypoplasia. Decayed, missing, and filled surfaces score was found to be elevated. Periodontal examination showed generalized diffuse gingival inflammation and gingival enlargement localized mainly to the anterior region. Nikolsky's sign was positive. However, wound healing was uneventful after the operations. Microscopic findings were similar to those obtained from the skin. Twenty-one months after the operations, Nikolsky's sign was negative and no remarkable gingival inflammation was noted. Microscopic examination revealed that the blisters were fewer in number and smaller in size. These results indicate that gingival tissues may also be involved in EBA. Uneventful wound healing after periodontal surgery in this case suggests that periodontal surgery can be performed in patients with EBA. Moreover, both our clinical and histopathologic findings imply that gingivectomy proves useful in maintaining gingival integrity in these patients. Our data may also suggest that the patients with EBA are highly likely to develop dental caries.

  18. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa.

    Science.gov (United States)

    Bremer, Jeroen; Bornert, Olivier; Nyström, Alexander; Gostynski, Antoni; Jonkman, Marcel F; Aartsma-Rus, Annemieke; van den Akker, Peter C; Pasmooij, Anna Mg

    2016-10-18

    The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON)-mediated exon skipping. In this study, we examined the feasibility of AON-mediated exon skipping in vitro in primary cultured keratinocytes and fibroblasts, and systemically in vivo using a human skin-graft mouse model. We show that treatment with AONs designed against exon 105 leads to in-frame exon 105 skipping at the RNA level and restores type VII collagen protein production in vitro. Moreover, we demonstrate that systemic delivery in vivo induces de novo expression of type VII collagen in skin grafts generated from patient cells. Our data demonstrate strong proof-of-concept for AON-mediated exon skipping as a systemic therapeutic strategy for RDEB.

  19. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

    DEFF Research Database (Denmark)

    Covaciu, C; Grosso, F; Pisaneschi, E

    2011-01-01

    Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) (OMIM 604129) represents a distinct variant within the DEB clinical spectrum. It is characterized by intense pruritus and distinctive nodular prurigo-like and/or hypertrophic lichenoid lesions mainly localized on the arms, legs and upper shoul...

  20. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    van den Akker, P. C.; Pasmooij, A. M. G.; Meijer, R.; Scheffer, H.; Jonkman, M. F.

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  1. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    Akker, P.C. van den; Pasmooij, A.M.; Meijer, R.; Scheffer, H.; Jonkman, M.F.

    2015-01-01

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  2. Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita : serration pattern analysis on skin biopsy is required for diagnosis

    NARCIS (Netherlands)

    Terra, J. B.; Jonkman, M. F.; Diercks, G. F. H.; Pas, H. H.

    BackgroundThe type VII collagen (coll VII) enzyme-linked immunosorbent assay (ELISA) has been reported to have high sensitivity (>93%) and specificity (>96%) for diagnosing epidermolysis bullosa acquisita (EBA) in patients who are seropositive on indirect immunofluorescence on salt-split skin (SSS).

  3. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa : Exon Skipping as Systemic Therapy for RDEB

    NARCIS (Netherlands)

    Bremer, Jeroen; Bornert, Olivier; Nyström, Alexander; Gostynski, Antoni; Jonkman, Marcel F; Aartsma-Rus, Annemieke; van den Akker, Peter C; Pasmooij, Anna MG

    2016-01-01

    The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most

  4. Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa.

    Science.gov (United States)

    Patel, Kamlesh; Wells, Jonathan; Jones, Rosie; Browne, Fiona; Moss, Celia; Parikh, Dakshesh

    2014-05-01

    Supplementing nutrition in children with severe epidermolysis bullosa (EB) is challenging because of skin and mucosal fragility. Percutaneous endoscopic gastrostomy is contraindicated in EB, whereas more invasive open surgical gastrostomy placement can be complicated by chronic leakage. The aim of the study was to review the efficacy and acceptability, in children with severe EB, of our modified 2-port laparoscopic approach using the Seldinger technique with serial dilatation and tube insertion through a peel-away sheath. Retrospective review of children with EB who underwent laparoscopic feeding gastrostomy at our centre since 2009. Seven children (6 severe generalised recessive dystrophic EB, 1 non-Herlitz junctional EB; 2 girls, 5 boys) underwent modified laparoscopic gastrostomy placement at median age 4.85 years (range 1.0-8.8), with fundoplication for gastro-oesophageal reflux in 1 case, with follow-up for 0.3 to 3.9 years. The procedure was well tolerated with oral feeds usually given after 4 hours and whole protein gastrostomy feeds within 24 hours in 6 patients. Improved growth was reflected in mean weight and height z scores: -1.36 (range -2.6 to 0.5) to -0.61 (range -2.34 to 2.0) and -1.09 (range -2.42 to 1.0) to 0.71 (range -1.86 to 1.0), respectively. Postoperatively, 5 patients experienced minor local complications: minimal leakage without skin damage in 3 and transient peristomal granulation rapidly responsive to topical treatment in 2; this followed acute gastrostomy site infection in 1. There was no leakage after the immediate postoperative period. We conclude that our less-invasive laparoscopic gastrostomy technique is effective and better tolerated in children with severe EB, at least in the medium term, than open gastrostomy placement. Longer follow-up is required.

  5. Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita.

    Science.gov (United States)

    Cyr, Janelle; Liu, Annie; Ghazarian, Danny; Siddha, Sanjay

    Epidermolysis bullosa acquisita (EBA) is a rare acquired type of mechanobullous disease affecting the dermal-epidermal junction (DEJ) of trauma prone acral surfaces. It manifests as tense vesicles, bullae, and milia and typically heals as atrophic hypo- or hyperpigmented scars. Classic noninflammatory mechanobullous EBA typically presents at a mean age of 48 years. A 21-year-old man presented with a 2-year history of nonpainful papular-vesicular lesions on his hands, knees, and toes after minor trauma to these areas. Physical exam revealed postinflammatory hypopigmented scarring and milia to the bilateral dorsal hands and bilateral extensor elbows and knees, with tense blisters on the dorsal hand and patella regions. Direct immunofluorescence revealed strong linear IgG and IgM with weak focal positivity for IgA and C3 at the DEJ. Blood work revealed an increased diffuse gamma region of 71 g/L (6-13 g/L) on serum protein electrophoresis. Pathology showed a fibrotic underlying dermis, with subepidermal bullae and separation and no significant inflammation. The patient was started on colchicine. This case showcases an unusual early age of presentation for mechanobullous EBA and illustrates the importance of interpreting pathology in the context of clinical findings and maintaining a high index of suspicion for EBA in younger patients who present with classic findings. This case is unique as it is the first report of an association between EBA and polyclonal gammopathy and could be suggestive of chronic inflammation, which would fit with our patient's chronic history of EBA.

  6. TGFβ-signaling in Squamous Cell Carcinoma Occurring in Recessive Dystrophic Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Julia Knaup

    2011-01-01

    Full Text Available Background: Recessive dystrophic epidermolysis bullosa (RDEB is a hereditary skin disorder characterized by mechanical fragility of the skin, resulting in blistering and chronic wounds. The causative mutations lie in the COL7A1 gene. Patients suffering from RDEB have a high risk to develop aggressive, rapidly metastasizing squamous cell carcinomas (SCCs. Cutaneous RDEB SCCs develop preferentially in long-term skin wounds or cutaneous scars. Albeit being well differentiated, they show a more aggressive behavior than UV-induced SCCs. These findings suggest other contributing factors in SCC tumorigenesis in RDEB. Objective: To analyze factors contributing to RDEB tumorigenesis, we conducted a comprehensive gene expression study comparing a non-malignant RDEB (RDEB-CL to a RDEB SCC cell line (SCCRDEB4 to achieve an overview on the changes of the gene expression levels in RDEB related skin cancer. Methods: We applied cDNA arrays comprising 9738 human expressed sequence tags (EST with various functions. Selected results were verified by Real-time RT PCR. Results: Large-scale gene expression analysis revealed changes in the expression level of transforming growth factor β1 (TGFβ1 and several genes under the control of TGFβ for RDEB and SCCRDEB4 cell lines. Even untransformed RDEB keratinocytes show elevated levels of TGFβ1. Conclusion: Our findings demonstrate a prominent role of TGFβ-signaling in RDEB-related skin cancer. Once activated, TGFβ signaling either in response to wounding or in order to influence type VII collagen expression levels could facilitate cancer development and progression. Moreover, TGFβ signaling might also represent a potentially useful therapeutic target in this disease.

  7. Epidermolysis bullosa acquisita with moderately severe dysphagia due to esophageal strictures

    Directory of Open Access Journals (Sweden)

    Jenny Tu

    2011-01-01

    Full Text Available Epidermolysis bullosa acquisita (EBA is a chronic, autoimmune condition involving the skin and mucous membranes. Symptomatic mucosal involvement is rare, but can impact on quality of life, due to esophageal strictures and dysphagia. We report a case involving a 60-year-old male presenting with bullous skin lesions on areas of friction on his hands, feet and mouth. Milia were visible on some healed areas. Biopsy showed a subepidermal vesicle. Direct immunofluorescence showed intense linear junctional IgG and C3 at the dermo-epidermal junction. Serological tests also supported the diagnosis of EBA. Screening tests for underlying malignancies were negative. Despite treatment with systemic steroids, the patient developed increasing dysphagia, requiring further investigation with esophagoscopy and a barium swallow. Confirmation of extensive esophageal stricturing prompted adjustment of medications including an increase in systemic steroids and addition of azathioprine. Currently, the patient′s disease remains under control, with improvement in all his symptoms and return of anti-basement membrane antibody levels to normal, whilst he remains on azathioprine 150 mg daily and prednisolone 5 mg daily. This case highlights the fact that the treatment of a given patient with EBA depends on severity of disease and co-morbid symptoms. Newer immunoglobulin and biological therapies have shown promise in treatment resistant disease. Considering that long-term immunosuppressants or biologicals will be required, potential side effects of the drugs should be considered. If further deterioration occurs in this patient, cyclosporin A or intravenous immunoglobulin (IV Ig will be considered. Vigilance for associated co-morbidities, especially malignancies, should always be maintained.

  8. Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa.

    Science.gov (United States)

    Yenamandra, V K; Moss, C; Sreenivas, V; Khan, M; Sivasubbu, S; Sharma, V K; Sethuraman, G

    2017-06-01

    Accurately diagnosing the subtype of epidermolysis bullosa (EB) is critical for management and genetic counselling. Modern laboratory techniques are largely inaccessible in developing countries, where the diagnosis remains clinical and often inaccurate. To develop a simple clinical diagnostic tool to aid in the diagnosis and subtyping of EB. We developed a matrix indicating presence or absence of a set of distinctive clinical features (as rows) for the nine most prevalent EB subtypes (as columns). To test an individual patient, presence or absence of these features was compared with the findings expected in each of the nine subtypes to see which corresponded best. If two or more diagnoses scored equally, the diagnosis with the greatest number of specific features was selected. The matrix was tested using findings from 74 genetically characterized patients with EB aged > 6 months by an investigator blinded to molecular diagnosis. For concordance, matrix diagnoses were compared with molecular diagnoses. Overall, concordance between the matrix and molecular diagnoses for the four major types of EB was 91·9%, with a kappa coefficient of 0·88 [95% confidence interval (CI) 0·81-0·95; P < 0·001]. The matrix achieved a 75·7% agreement in classifying EB into its nine subtypes, with a kappa coefficient of 0·73 (95% CI 0·69-0·77; P < 0·001). The matrix appears to be simple, valid and useful in predicting the type and subtype of EB. An electronic version will facilitate further testing. © 2016 British Association of Dermatologists.

  9. A suicide gene therapy approach to treat epidermolysis bullosa-associated skin cancer

    International Nuclear Information System (INIS)

    Gruber, C.

    2009-01-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disease causing extensive blister formation within the basal membrane zone (BMZ) of the skin and mucous membranes. It is caused by premature STOP mutations in the COL7A1 gene, which is indispensable for proper skin assembling. RDEB is associated with the development of a highly malignant skin cancer (squamous cell carcinoma, SCC) in early adulthood that displays a life threatening complication within this patient group. To date, neither chemo- nor radiotherapies showed successful results and due to the high metastatic potential of RDEB SCC wide surgical excision is still favoured. In this study we could reveal a new promising cancer treatment using spliceosome mediated RNA trans-splicing (SMaRT) using a suicide gene therapy approach. First we identified the tumour marker gene MMP-9 expressed by RDEB SCC cells in cell culture which was used to generate various pre-mRNA trans-splicing molecules (PTM). PTMs are able to facilitate trans-splicing between a tumour target gene and a cell death inducing peptide/toxin, encoded by the PTM. As a consequence the toxin is expressed in cancer cells leading to the induction of cell death. This technique offers high specificity in cancer cell targeting compared to other conventional cDNA expression studies. Various trans-splicing molecules were pre-evaluated in a fluorescence screening model for their best trans-splicing efficiency with the target molecule. Herein we identified two potent PTMs (PTM BD0 and PTM BD6), that were further adapted for endogenous suicide studies by inserting the toxin streptolysin O. In two independent in vitro cell culture assays we were able to confirm that the trans-splicing molecules are able to induce expression of the toxin resulting in cell membrane permeabilization and increased cell death induction. The results indicate that SMaRT technology offers a new platform for a suicide gene therapy approach to treat malignant squamous cell

  10. Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size.

    Science.gov (United States)

    Fine, J-D; Johnson, L B; Weiner, M; Suchindran, C

    2005-05-01

    The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological implications for other family members. To assess the impact of the presence of EB in one or more children on the personal relationships between their parents. Standardized questionnaires were used. In general, the presence of a child severely affected with EB had profound effects on many aspects of marriage. This included a lack of interest in participating in activities as couples [junctional EB (JEB), 45%; recessive dystrophic EB (RDEB), 25%], a lack of energy to invest in such pursuits (JEB, 82%; RDEB, 50%), limitations in opportunities for sharing nonintimate physical activities (reported by most parents having children with some type of generalized EB), and negatively altered parental sex life (JEB, 55%; RDEB, 39%). This is consistent with the fact that 10%, 64%, 25% and 36% of parents of an affected child with EB simplex (EBS), JEB, dominant dystrophic EB (DDEB) and RDEB, respectively, characterized their relationships as couples as revolving almost exclusively around the day-to-day care of their affected children. The severity of disease in an affected child clearly influenced parental decisions about having more children: 24% and 64% of parents of children with JEB and RDEB, respectively, chose not to have additional children, compared with 26% and 54% of parents with children having EBS or DDEB. This choice was most often pursued via tubal ligation; less often, alternative means of surgical sterilization were chosen. Divorce was common among parents of children with EB (range: 17% in EBS to 31% in JEB) and, with the exception of parents of children with EBS, was usually directly attributed by one or both parents to the profound impact that this disease had exerted on their marriage. Physicians caring for children with EB need to give more consideration to the many psychological factors that may contribute to their patients' well being. They may

  11. External Ocular Manifestations in Autosomal Dominant Dystrophic Epidermolysis Bullosa; a Case Report

    Directory of Open Access Journals (Sweden)

    Manizheh Mahdavi

    2008-11-01

    Full Text Available

    PURPOSE: To present a case of autosomal dominant dystrophic epidermolysis bullosa with symblepharon formation due to eye rubbing. CASE REPORT: A 10-year-old girl suffering from blistering and ulcerative lesions of the trunk and palms and dystrophic nails since childhood was referred to our clinic with a symblepharon connecting the medial portion of the right upper lid to the superonasal quadrant of the cornea. The central cornea in both eyes exhibited mild subepithelial opacification. She had history of eye rubbing due to foreign body sensation in the right eye, resulting in red eye and blister-like conjunctival lesions since three years ago. She had previously undergone surgical symblepharon removal leading to more severe recurrence of the condition. CONCLUSION: Dominant dystrophic epidermolysis bullosa may be accompanied by external ocular manifestations. Protection of the eye from minor trauma such as rubbing may help prevent ocular complications.

  1. A cross sectional, observational survey to assess levels and predictors of psychological wellbeing in adults with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Emma Dures

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB describes a cluster of genetically determined skin disorders. Symptoms can be painful, disabling and disfiguring, yet there is little research on the psychological impact of the disease. The study aim was to measure psychological wellbeing in adults with EB; and to examine the association between psychological wellbeing and self efficacy, health locus of control and adjustment to appearance in an observational, cross sectional survey. Questionnaire packs comprising the General Health Questionnaire (GHQ-12, the General Self Efficacy Scale (GSE, the Multidimensional Health Locus of Control Scale (MHLOC, and the Derriford Appearance Scale (DAS-24, were sent to approximately 385 adults with EB. The data were analysed using SPSS. Eighty-seven participants responded. Scores on the GHQ-12 showed non-problematic psychological health in 36% of the sample; levels bordering on clinical disorder in 32.1% and severe psychological distress in 31.9%. No correlations were found between demographic factors (age and sex or clinical factors (EB type and perceived severity and psychological well-being. Scores on the GSE, the internal locus of control sub-scale of the MHLOC and the DAS-24 showed them to be statistically significant correlates of psychological wellbeing (P<0.001; P<0.018; and P<0.001 respectively. In a regression analysis, adjustment to appearance and self efficacy accounted for 24% of the variation in psychological wellbeing. Adults with EB might be at risk of experiencing poor psychological health. Interventions designed to enhance disease self management, self efficacy and improve body image are likely to be beneficial in this clinical group.

  2. Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.

    Science.gov (United States)

    Stefanova, Margarita; Zemke, Katrin; Dimitrov, Boyan; Has, Christina; Kern, Johannes S; Bruckner-Tuderman, Leena; Kutsche, Kerstin

    2005-10-01

    Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB. Whereas father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin, BP230 (BPAG1) and the integrin beta4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.

  3. Collagen VII deficient mice show morphologic and histologic corneal changes that phenotypically mimic human dystrophic epidermolysis bullosa of the eye.

    Science.gov (United States)

    Chen, Vicki M; Shelke, Rajani; Nyström, Alexander; Laver, Nora; Sampson, James F; Zhiyi, Cao; Bhat, Najma; Panjwani, Noorjahan

    2018-06-16

    Absence of collagen VII causes blistering of the skin, eyes and many other tissues. This disease is termed dystrophic epidermolysis bullosa (DEB). Corneal fibrosis occurs in up to 41% and vision loss in up to 64% of patients. Standard treatments are supportive and there is no cure. The immune-histologic and morphologic changes in the corneas of the mouse model for this disease have not been described in the literature. Our purpose is to characterize the eyes of these mice to determine if this is an appropriate model for study of human therapeutics. Western blot analysis (WB) and immunohistochemistry (IHC) were performed to assess the relative collagen VII protein levels and its location within the cornea. Additional IHC for inflammatory and fibrotic biomarkers alpha-smooth muscle actin (α-SMA), transforming growth factor-beta (TGF-β), connective tissue growth factor (CTGF), proteinase 3, tenascin C and collagen III were performed. Clinical photographs documenting opacification of the corneas of animals of differing ages were assessed and scored independently by 2 examiners. Histology was then used to investigate morphologic changes. IHC and WB confirmed that these mice are deficient in collagen VII production at the level of the basement membrane when compared with wild-types. IHC showed anomalous deposition of collagen III throughout the stroma. Of the 5 biomarkers tested, TGF-β showed the strongest and most consistently staining. Photographs documented corneal opacities only in mice older than 10 weeks, opacities were not seen in younger animals. Histology showed multiple abnormalities, including epithelial hyperplasia, ulceration, fibrosis, edema, dysplasia, neovascularization and bullae formation. The collagen VII hypomorphic mouse shows reduced collagen VII production at the level of the corneal basement membrane. Corneal changes are similar to pathology seen in humans with this disease. The presence of anomalous stromal collagen III and TGF-β appear to be

  4. Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico Recessive dystrophic epidermolysis bullosa mitis: case report

    Directory of Open Access Journals (Sweden)

    Thaiz Gava Rigoni Gürtler

    2005-10-01

    Full Text Available As epidermólises bolhosas são dermatoses bolhosas congênitas que levam à formação de bolhas espontaneamente ou após trauma. São reconhecidos três grupos de da doença, de acordo com o segundo consenso internacional: simples, juncional e distrófica. Nas formas distróficas, o defeito genético deve-se à mutação no gene COL7A1, responsável pela codificação do colágeno VII, principal constituinte das fibrilas de ancoragem, que participam na aderência da lâmina densa à derme. Os autores relatam o caso de paciente do sexo feminino, de 15 anos, apresentando ulcerações nas pernas, bolhas serosas e lesões atrófico-acastanhadas nos braços e tronco. Foram observadas distrofias ungueais e alterações dentárias, iniciadas a partir do nascimento. O exame histopatológico da bolha revelou quadro compatével com epidermólise bolhosa, que, associado aos dados clínicos, permitiram a classificação do caso na forma distrófica recessiva mitis.Epidermolysis bullosa are congenital bullous dermatoses that lead to spontaneous or post-traumatic formation of blisters. There are three recognized disease groups, according to the second international consensus: simplex, junctional and dystrophic. The genetic defect of the dystrophic forms is due to a mutation in the COL7A1 gene, which is responsible for codifying collagen VII, the main representative of anchoring fibrils, which participate in the adherence of the "lamina densa" to the dermis. The authors describe a case of a 15 year-old female patient who presented ulcers on her legs, serous blisters and atrophic scars on her arms and body. Dystrophic ungual and dental abnormalities had also been observed since her birth. Blister histopathological examination was compatible with epidermolysis bullosa, which, in association with clinical data, allowed the classification of recessive distrophic epidermolysis bullosa.

  5. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB in two French draft horse breeds

    Directory of Open Access Journals (Sweden)

    Guérin Gérard

    2003-03-01

    Full Text Available Abstract Epidermolysis bullosa (EB is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB, is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling.

  6. Epidermolysis bullosa simplex

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-03-01

    Mar 1, 2012 ... Yenagoa on the second day of life and was treated as a case of skin sepsis with ... and adulthood and is usually confined to the hands and feet. Later in life ... his clothing and diapers while the sores on the nail beds occurred ...

  7. Systemic granulocyte colony-stimulating factor (G-CSF) enhances wound healing in dystrophic epidermolysis bullosa (DEB): Results of a pilot trial.

    Science.gov (United States)

    Fine, Jo-David; Manes, Becky; Frangoul, Haydar

    2015-07-01

    Chronic nonhealing wounds are the norm in patients with inherited epidermolysis bullosa (EB), especially those with dystrophic EB (DEB). A possible benefit in wound healing after subcutaneous treatment with granulocyte colony-stimulating factor (G-CSF) was suggested from an anecdotal report of a patient given this during stem cell mobilization before bone-marrow transplantation. We sought to determine whether benefit in wound healing in DEB skin might result after 6 daily doses of G-CSF and to confirm its safety. Patients were assessed for changes in total body blister and erosion counts, surface areas of selected wounds, and specific symptomatology after treatment. Seven patients with DEB (recessive, 6; dominant, 1) were treated daily with subcutaneous G-CSF (10 μg/kg/dose) and reevaluated on day 7. For all patients combined, median reductions of 75.5% in lesional size and 36.6% in blister/erosion counts were observed. When only the 6 responders were considered, there were median reductions of 77.4% and 38.8% of each of these measured parameters, respectively. No adverse side effects were noted. Limitations include small patient number, more than 1 DEB subtype included, and lack of untreated age-matched control subjects. Subcutaneous G-CSF may be beneficial in promoting wound healing in some patients with DEB when conventional therapies fail. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  8. Adopting a Sustainable Community of Practice Model when Developing a Service to Support Patients with Epidermolysis Bullosa (EB): A Stakeholder-Centered Approach.

    Science.gov (United States)

    Gowran, Rosemary Joan; Kennan, Avril; Marshall, Siobhán; Mulcahy, Irene; Ní Mhaille, Sile; Beasley, Sarah; Devlin, Mark

    2015-02-01

    Epidermolysis bullosa (EB) is a rare, genetic skin condition that is complicated, distressing, and painful and permeates every aspect of patients' lives. Support services are essential for meeting the primary needs of patients and families living with EB; however, provision is challenged by many complex issues. In collaboration with the patient organization DEBRA Ireland, this research conducted an in-depth analysis of Irish healthcare support services for EB, with a view to moving towards an improved and sustainable care pathway. A sustainable community of practice model (SCOP), as a core construct provided a simplified framework when studying this complex system. The research utilized mixed methods, comprising individual interviews, questionnaires, and a participatory action research workshop based on a soft systems approach. The study engaged patients, family members, service providers, and policy developers. Findings emphasized that the complexities of life with EB are more than 'skin deep'. The lived experience of stakeholders revealed many levels of emotion, both positive and heart-rending. Despite the positive efforts of specialists in this field, inadequacies to meet the primary needs of people with EB, such as bandages-fundamental for survival-were highlighted. Participants reported challenges relating to understanding patients' needs, access to consistent services within hospitals and the community, time constraints, and the strong emotions evoked by this severe and rare disease. The study identified several areas that can be targeted to bring about improvements in meeting primary needs. Education and research at public, policy, and practice levels need to be prioritized. It is imperative that citizens move beyond an awareness that EB exists and demonstrate a consciousness about the importance of advocating and enabling seamless and sustainable support services through collective action.

  9. Inherited epidermolysis bullosa: clinical and therapeutic aspects Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

    Directory of Open Access Journals (Sweden)

    Vanessa Lys Simas Yamakawa Boeira

    2013-04-01

    Full Text Available Inherited epidermolysis bullosa (EB is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after minimal trauma or friction. Children with a recurrent history of these kinds of lesions or neonates that present them in the absence of another reasonable explanation should be investigated. Diagnosis must be based on clinical and histopathological findings. To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages.A epidermólise bolhosa hereditária (EBH compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns casos mucosa, predispondo ao desenvolvimento de bolhas e/ou erosões após fricção ou trauma mínimo. Crianças com história recorrente deste tipo de lesão ou neonatos que as apresentem na ausência de outra explicação plausível devem ser investigados. O diagnóstico deve se basear em achados clínicos e histopatológicos. Até o presente momento, o manejo da EBH consiste basicamente em evitar os traumas desencadeadores das lesões, bem como evitar a infecção e facilitar a cicatrização das feridas com o uso sistemático de curativos.

  10. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2; referees: 2 approved, 1 approved with reservations

    Directory of Open Access Journals (Sweden)

    Shamsudheen Karuthedath Vellarikkal

    2016-07-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  11. Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 1; referees: 2 approved, 1 approved with reservations

    Directory of Open Access Journals (Sweden)

    Shamsudheen Karuthedath Vellarikkal

    2016-05-01

    Full Text Available Dystrophic epidermolysis bullosa simplex (DEB is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES. Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

  12. 先天性大疱表皮松解症患儿的创面护理管理%Wound nursing management of children with congenital epidermolysis bullosa

    Institute of Scientific and Technical Information of China (English)

    任平; 陈劼; 张玉侠

    2016-01-01

    It reviewed the research status quo of wound care of children with congenital epidermolysis bullosa (EB),based on epidermolysis bullosa“wound bed preparation”(WBP)from the wound management steps inclu-ding the effective cleaning of the wound,the reasonable choice of wet dressing and the prevention of complica-tions and so on.The wet dressings and matters needing attention suitable for the different types of EB patients were not the same,it thought that drug and non drug intervention methods of pain and itching management were nursing important points.%以大疱表皮松解症“创面床准备”为基础,从创面管理步骤包括有效清洁创面病灶、合理选用湿性敷料以及预防并发症等方面综述了先天性大疱表皮松解症患儿的创面护理管理研究现状,不同类型的大疱表皮松解症患儿适用的湿性敷料和注意事项各不相同,认为药物和非药物干预方法的疼痛、瘙痒管理也是护理的重点。

  13. Newborn with severe epidermolysis bullosa

    DEFF Research Database (Denmark)

    Boesen, Martin Lehmann; Bygum, Anette; Hertz, Jens Michael

    2016-01-01

    of EB depends on the subtype, and therefore maximum treatment is necessary until the final diagnosis is known. In this case, it took 2 weeks before a final diagnosis was reached. In the meantime, we had several ethical discussions on the treatment level. The most important issues were management of pain...

  14. Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy Variabilidade clínica em epidermólise bolhosa distrófica e achados de microscopia eletrônica de varredura

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2012-02-01

    Full Text Available In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg. Immunomapping of a blister demonstrated collagen IV (basal membrane in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant.Na epidermólise bolhosa distrófica, o defeito genético das fibrilas de ancoragem leva à clivagem abaixo da membrana basal com sua consequente perda. Uma paciente de 46 anos apresentava bolhas pré-tibiais associadas à distrofia ungueal. Seus dois filhos apresentavam hipo e anoníquia, afetando todas as unhas dos pododáctilos e dos primeiros, segundos e terceiros quirodáctilos. O sequenciamento de DNA identificou no exon 75 do gene COL7A1 uma mutação patológica: c.6235G>A (p.Gly2079Arg. O imunomapeamento identificou o colágeno IV no teto e colágeno VII no assoalho de uma bolha , confirmando o diagnóstico de epidermólise bolhosa distrófica. A microscopia eletrônica de varredura de um teto invertido de bolha demonstrou rede de colágeno aderida ao mesmo. A variabilidade clínica encontrada nessa família já foi escrita e confirma, que o subtipo ungueal das epidermólises bolhosas é uma forma distrófica.

  15. Three familial cases of Pasini variant of dominant dystrophic epidermolysis

    Directory of Open Access Journals (Sweden)

    Seirafi H

    1999-07-01

    Full Text Available Epidermolysis bullosa (EB is the term applied to a group of disorders whose common primary feature is the formation of blisters following trivial trauma. Hereditary EB comprises 3 major classes: simplex, junctional and dystrophic, and includes more than 23 phenotypes. The albopapuloid pasini variant of dominant dystrophic EB is characterized by a distinctive clinical appearance. In this article, we report this disease in three members of a family (father and two sons.

  16. Use of Epidermolysis Bullosa Biomarkers in Models of Vesicant Injury

    National Research Council Canada - National Science Library

    Gerecke, Donald R

    2006-01-01

    .... The specific aim of the compound evaluation study was to determine the effectiveness of topically delivered synthetic MMP inhibitors, Ilomastat, GM1489, MMP- 2/MMP-9 Inhibitor I, and MMP-2/MMP-9...

  17. Stem Cell-Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2015-12-01

    Methods , 2014. 11(3): p. 291-3. Differentiation of Human Induced Pluripotent Stem Cells into a Keratinocyte Lineage Igor Kogut...discovery of methods for reprogramming adult somatic cells into induced pluripotent stem cells (iPSCs) has raised the possibility of producing truly...2013. Generation of functional mul- tipotent keratinocytes from mouse induced pluripotent stem cells . Methods Mol Biol 961: 337–350.

  18. Stem-Cell Based Therapies for Epidermolysis Bullosa

    Science.gov (United States)

    2014-10-01

    immunocompromised NSG mice. This task has not been initiated. Task 4.6 Derive mesenchymal cells from genetically corrected patient-specific JEB iPSC and...determine their ability to stably engraft long-term into the BM of immunocompromised NSG mice. This task has not been initiated. Key Research...differentiation protocol below (see Note 7). 1. Prewarm complete DKSFM (with antibiotics and DKSFM supplement) in the 37 C water bath. 2. Add 5 mL of prewarmed

  19. Epidermolysis bullosa simplex: A case report | Peterside | Nigerian ...

    African Journals Online (AJOL)

    Nigerian Journal of Paediatrics. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 39, No 4 (2012) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

  20. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

    Science.gov (United States)

    ... caused by mutations in the ITGA6 , ITGB4 , and PLEC genes. These genes provide instructions for making proteins ... of EB-PA result from mutations in the PLEC gene. This gene provides instructions for making a ...

  1. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

    NARCIS (Netherlands)

    Jonkman, MF; Pasmooij, AMG; Pasmans, SGMA; van den Berg, MP; ter Horst, HJ; Timmer, A; Pas, HH

    2005-01-01

    The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma,

  2. Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis.

    Science.gov (United States)

    Batalla, A; Vicente, A; Bartrons, J; Prada, F; Fortuny, C; González-Enseñat, M A

    In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa

    Science.gov (United States)

    2006-09-01

    8 A ppendices ...................................................................................... 8 3 Mahoney...activation after acute injury to stratified epithelia. Biochem. Biophys. Res. Commun. 236, 231-238. Cowin, P. (1994). Unraveling the cytoplasmic

  4. Development of Genetic Therapies for the Hemidesmosol Subtypes of Junction Epidermolysis Bullosa

    Science.gov (United States)

    2003-11-01

    Billoni et al, 2000). These compounds include activators of the nuclear hormone receptor PPAR, in particular, clofibrate (1 mg) and linoleic acid (1 mg...been shown to provide a variety of skin benefits. Prescription retinoic acid in icular has been shown to repair photodamaged skin and provide...R.A., Stolle, C.A. and Deak, S.B. (1991) Mammalian Tropoelastin: Multiple Domains of the Protein Define an Evolutionarily Divergent Amino Acid

  5. Development of Genetic Therapies for the Hemidesmosol Subtypes of Junction Epidermolysis Bullosa

    National Research Council Canada - National Science Library

    Christiano, Angela

    2003-01-01

    ... for in vitro epithelial reprogramming, in which we have begun to utilize different epithelial cell types as donor cells, in addition to keratinocytes, specifically, amnion and cornea cells. Collectively, we have shown that the use of gene delivery combined with epithelial cell-skin equivalent models, show significant promise toward developing a cellular.

  6. Conservative Treatment of a Patient with Epidermolysis Bullosa Presenting as Bart Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Samet Vasfi Kuvat

    2010-01-01

    Full Text Available We presented a case of a newborn male with aplasia cutis congenita on the lower limb. The case was treated with conservative method. As for the conservative treatment, daily hydrodebridement with 1/200 diluted povidone-iodine and serum physiologic was performed, followed by closure of the wound with a dexpanthenol + chlorhexidine + fusidic acid-impregnated sterile gauze bandage. the followup that occured after three weeks, the wound was completely epithelialized, but a hypopigmented scar remained in the limb.

  7. The Nursing Care And Education Plan For A Child With Epidermolys is Bullosa (A Case Report

    Directory of Open Access Journals (Sweden)

    Esra Karaca Çiftçi

    2016-05-01

    Full Text Available Epidermolysis Bullosa (EBis a chronic disease, some types of which may have morbidity and mortality. That is why the patients must receive multidisciplinary care in case any complications arise. Families must be informed about the disease, about home care and receive genetic counselling. The importance of genetic counselling cannot be stressed enough, since both M.C. and his younger brother were diagnosed with EB. If the family had received genetic counselling, this tragic situation could have been prevented. Home care education for the families of EB patients is also of great importance. Relatives of the patient must also be educated about wound care, infection control, patient nutrition and physical treatment. They must also be educated about how to use the medications and about bandaging, dressing, Vaseline bandages, antiseptics, bathing procedures, and the use of antibiotic cream ointment. It was obvious, therefore, that the nursing care given at home enhanced both the patient’s and the family’s quality of life.

  8. Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq

    Directory of Open Access Journals (Sweden)

    Dorothea Sander

    2016-01-01

    Full Text Available A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT in the keratin 1 gene (KRT-1. To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT in KRT-1.

  9. Concha Bullosa Mucopyocele: a Case Report

    Directory of Open Access Journals (Sweden)

    Kamran Sari

    2016-03-01

    Full Text Available Concha bullosa (CB is among the most common anatomic variations of sinonasal anatomy. Although usually asymptomatic, CB can occasionally cause nasal obstruction or headache. Obstructions within the mucociliary transport system can develop into a mucocele or mucopyocele. A 48-year-old female, with a history of progressive headache and nasal obstruction, was referred to our department. Paranasal sinus tomography revealed a nasal mass in the left nasal cavity resembling a mucopyocele in the middle turbinate. Under general anesthesia, the purulent material was aspirated, and the lateral part of the left turbinate was resected. Mucopyoceles are common within the paranasal sinuses, but uncommon with CB; thus, they should be considered in patients with a large hyperemic nasal mass.

  10. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

    DEFF Research Database (Denmark)

    Sørensen, Charlotte B; Andresen, Brage S; Jensen, Uffe B

    2003-01-01

    vectors were transiently transfected into normal human primary keratinocytes (NHK), HaCaT or HeLa cells in order to analyze the ability of the mutant K14 proteins to integrate into the existing endogenous keratin filament network (KFN). No effect on the keratin cytoskeleton was observed upon transfection...... of NHK with the various K14 constructs neither with nor without a subsequently induced heat-stress. In contrast, all constructs, including wild-type K14, caused collapse of the endogenous KFN in a small fraction of the transfected HeLa and HaCaT cells. However, overexpression of the mutation associated...... with the most severe form of the disease, EBS Dowling-Meara, resulted in a higher number of transfected HaCaT cells with KFN collapse (P

  11. Novel Tissue Models of Junctional Epidermolysis Bullosa to Characterize Functional Mechanisms of Sulfur Mustard Injury to Human Skin

    National Research Council Canada - National Science Library

    Garlick, Joanthan

    2003-01-01

    In the second year of our research, our laboratory has extensively studied skin pathophysiology in response to SM by adapting in vivo, human skin/nude mouse chimera to further understand mechanisms...

  12. Mucopyocele of the concha bullosa presenting as a large nasal mass.

    Science.gov (United States)

    Abdel-Aziz, Mosaad

    2011-05-01

    Concha bullosa that is a pneumatization of the middle turbinate is a common anatomic variant; the obstruction of its ostium may lead to mucocele and even pyocele after infection of retained secretion. Although the condition is rare, mucopyocele of concha bullosa may be presented as a large nasal mass. However, the diagnosis could be suspected from its characteristic radiologic signs. We present an adolescent boy with mucopyocele of the concha bullosa.

  13. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody. Definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa

    DEFF Research Database (Denmark)

    Fine, J D; Horiguchi, Y; Couchman, J R

    1989-01-01

    A murine monoclonal antibody (19-DEJ-1) was recently produced that recognizes a unique antigenic epitope of human skin basement membrane localized to the midlamina lucida exclusively in those areas bordered by overlying hemidesmosomes. To determine whether the antigen defined by 19-DEJ-1 is norma...

  14. There Is No Structural Relationship between Nasal Septal Deviation, Concha Bullosa, and Paranasal Sinus Fungus Balls

    Directory of Open Access Journals (Sweden)

    Tung-Lung Tsai

    2012-01-01

    Full Text Available This study aims to determine the relationship between nasal septal deviation, concha bullosa, and chronic rhinosinusitis by using a definitive pathological and simplified model. Fifty-two consecutive sinus computed tomography scans were performed on patients who received endoscopic sinus surgery and whose final diagnosis was paranasal sinus fungus balls. The incidences of nasal septal deviation and concha bullosa for patients diagnosed with paranasal sinus fungus balls among the study group were 42.3% and 25%, respectively. About 63.6% sinuses with fungus balls were located on the ipsilateral side of the nasal septal deviation, and 46.2% were located on the ipsilateral side of the concha bullosa. When examined by Pearson’s chi-square test and the chi-squared goodness-of-fit test, no significant statistical difference for the presence of paranasal sinus fungus balls between ipsilateral and contralateral sides of nasal septal deviation and concha bullosa was noted (P=0.292 and P=0.593, resp.. In conclusion, we could not demonstrate any statistically significant correlation between the location of infected paranasal sinus, the direction of nasal septal deviation, and the location of concha bullosa, in location-limited rhinosinusitis lesions such as paranasal sinus fungal balls. We conclude that the anatomical variants discussed herein do not predispose patients to rhinosinusitis.

  15. Ichthyosis bullosa of Siemens: Response to topical tazarotene

    Directory of Open Access Journals (Sweden)

    Rajiv S

    2006-01-01

    Full Text Available In 1937, Siemens described a Dutch family with superficial blistering, flexural hyperkeratosis, and characteristic mauserung appearance. Since then, less than 20 kindreds with this condition have been described in the English dermatologic literature. A 14-year-old boy presented with history of recurrent blistering and peeling of skin since the age of 1 month, predominantly seen over limbs and trunk, often associated with secondary infection. His mother also had similar symptoms from childhood. On examination, the child had typical mauserung peeling of the skin and dirty gray hyperkeratosis in a rippled pattern over flexures. Skin biopsy from the boy showed intracorneal blistering with epidermolytic hyperkeratosis in the upper spinous layers. The typical history and clinical features along with characteristic histological findings confirmed our diagnosis of ichthyosis bullosa of Siemens. It must be differentiated from other conditions with epidermolytic hyperkeratosis and skin peeling, such as bullous ichthyosiform erythroderma of Brocq and peeling skin syndrome. Our patient responded well to 0.05% topical tazarotene gel over four weeks.

  16. Vesicostomy as a Treatment Option for Epidermolisis Bullosa Case With Urethral and Meatal Involvement

    Directory of Open Access Journals (Sweden)

    Mahmoudreza Moradi

    2016-07-01

    Full Text Available Epidermolisis Bullosa (EB is a rare hereditary disorder that its junctional type is very rare one that involves epithelium, however, genitourinary epithelium involvement occurs so rarely. The present case is 5-year old boy; a known case of junctional EB whom had recurrent urinary retention due to meatal and urethral stenosis that was deteriorated by therapeutically interventions.

  17. A Case Report of Angina Bullosa Haemorrhagica (ABH in Patient with Churg Strauss Syndrome

    Directory of Open Access Journals (Sweden)

    M. Koopaie

    2015-11-01

    Full Text Available Bullosa Haemorrhagica (ABH is a rare oral blood blisters disorder. This recurrent disorder is restricted to oral mucosa and its difference with other oral vesiculobullos disorders is that blood vesicles are formed after minor trauma and in the absence of any blood dyscrasia, vesiculobullos disease and systemic disorder. This blood blisters are without pain, with color of dark red and full of bloods that rapidly enlarge and rapidly burst. The incidence of Angina Bullosa Haemorrhagica is unknown. Diagnosis of this disorder and differentiation from vesiculobullos disease like pemphigus and pemphiguid is important for patient's health. In this report we introduce a 55 years old woman with a 4­years history of oral blood blisters. These vesicles were in lateral border and ventral surface of tongue and on the ferenum. In medical history the patient had churg strauss syndrome and using inhalation corticosteroid for control of asthmatic attacks (An etiologic factor for appearing or aggravation of the disease.

  18. Disease: H00585 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available lysis bullosa simplex, Ogna type (EBS-Ogna) Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanic...ally fragile skin that readily blister. The conditions i

  19. Genetic and bibliographic information: KRT5 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available nd Neonatal Diseases and Abnormalities (C16) > Congenital Abnormalities (C16.131) > Skin Abnormalities (C16....ases, Inborn (C16.320) > Skin Diseases, Genetic (C16.320.850) > Epidermolysis Bullosa (C16.320.850.275) > Ep...idermolysis Bullosa Simplex (C16.320.850.275.180) Skin and Connective Tissue Diseases (C17) > Skin Diseases (C17.800) > Skin....493) > Epidermolysis Bullosa Simplex (C17.800.804.493.180) Skin and Connective Tissue Diseases (C17) > Skin Diseases (C17.800) > Ski...rmolysis Bullosa Simplex (C17.800.827.275.180) Skin and Connective Tissue Diseases (C17) > Skin

  20. Disease: H00586 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available osa, junctional, with pyloric atresia (JEB-PA) Inherited epidermolysis bullosa is a diverse group of disorders characterized by mecha...nically fragile skin that readily blister. The junctiona

  1. Caspase-1-Independent IL-1 Release Mediates Blister Formation in Autoantibody-Induced Tissue Injury through Modulation of Endothelial Adhesion Molecules

    NARCIS (Netherlands)

    Sadeghi, Hengameh; Lockmann, Anike; Hund, Anna-Carina; Samavedam, Unni K. S. R. L.; Pipi, Elena; Vafia, Katerina; Hauenschild, Eva; Kalies, Kathrin; Pas, Hendrikus; Jonkman, Marcel F.; Iwata, Hiroaki; Recke, Andreas; Schon, Michael P.; Zillikens, Detlef; Schmidt, Enno; Ludwig, Ralf J.

    2015-01-01

    Although reports documented aberrant cytokine expression in autoimmune bullous dermatoses (AIBDs), cytokine-targeting therapies have not been established in these disorders. We showed previously that IL-6 treatment protected against tissue destruction in experimental epidermolysis bullosa acquisita

  2. NIGERIAN VETERINARY JOURNAL

    African Journals Online (AJOL)

    ADEYEYE

    b). Diagnosis of Epitheliogenesis imperfecta was based on the clinical observation of congenital skin discontinuity and histopathological findings. The major differential diagnosis for an animal presenting with congenital discontinuity of squamous epithelium include epidermolysis bullosa which is characterized by cutaneous.

  3. Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency

    NARCIS (Netherlands)

    Gostynska, Katarzyna B.; Yuen, Wing Yan; Pasmooij, Anna Maria Gerdina; Stellingsma, Cornelius; Pas, Hendri H.; Lemmink, Henny; Jonkman, Marcel F.

    2017-01-01

    The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin

  4. Electrocauterización de la membrana de Bowman para el tratamiento de la queratopatía bullosa dolorosa Electrocauterization of Bowman's membrane for the treatment of painful bullous keratopathy

    Directory of Open Access Journals (Sweden)

    Elizabeth Escalona Leyva

    2002-12-01

    Full Text Available El propósito en este trabajo es evaluar la electrocauterización de la membrana de Bowman como alternativa quirúrgica en el tratamiento de la queratopatía bullosa dolorosa. Se estudiaron 30 ojos de 30 pacientes con diagnóstico de queratopatía bullosa dolorosa que no habían logrado mejoría con los tratamientos habituales. Se tomaron como variables fundamentales la edad, el sexo, la etiología, el tiempo de evolución, la epitelización, las complicaciones y el alivio sintomático, los datos se tabularon de forma manual teniendo en cuenta el universo de pacientes. Predominó la queratopatía bullosa posquirúrgica (afáquicas y pseudofáquicas en el 83,3 % de los pacientes. Las edades más afectadas fueron los mayores de 60 años (63,3 %; no se encontraron diferencias significativas en cuanto al sexo. El tiempo de epitelización fue de 7 a 14 días en el 93,3 % de los pacientes y solo se encontraron complicaciones en el 14 % que no fueron de gravedad. El alivio de los síntomas se produjo en el 66,6 % en la primera semana del posoperatorio. La electrocauterización de la membrana de Bowman constituye un método eficaz, sencillo y con resultados satisfactorios en el tratamiento de la queratopatía bullosa dolorosaThe purpose of this paper is to evaluate the electrocauterization of Bowman's membrane as a surgical alternative in the treatment of painful bullous keratopathy. 30 eyes from 30 patients who were diagnosed painful bullous keratopathy and had not improved with the habitual treatments were studied. Age, sex, ethiology, time of evolution, epithelialization, complications and the symptomatic relief were taken as fundamental variables. Data were manually tabulated, taking into account the number of patients. The psotsurgical bullous keratopathy (aphakic y pseudophakic prevailed in 83.3 % of the patients. The most affected were those over 60 (63.3 %. No significant differences were found in relation to sex. The time of epithelialization

  5. a case report and literature review

    African Journals Online (AJOL)

    Pyloric atresia was surgically corrected. Electron microscopy of skin biopsies showed junctional epidermolysis bullosa. There was typical nail dystrophy and no corneal lesions; ultrasonography for the renal system was normal. At 4 months of age, the baby required gastrostomy and fundoplication for severe failure to thrive.

  6. Download this PDF file

    African Journals Online (AJOL)

    Coffin Lowry Sydrome. Diastrophic Dysplasia. Sydrome. E.E.C. syndrome. Epidermolysis Bullosa. Fanconi syndrome. Focal Dermal Hypoplasia. Goldenhar syndrome. Hand-Foot-genital syndrome. Hanhart syndrome. Holt-Oram syndrome. Klipple-Feil Sydrome. Laurence Moon Sydrome. Marfan syndrome. Meckel Sydrome.

  7. Acrodystrophic neuropathy of Bureau and Barriere in Sudanese ...

    African Journals Online (AJOL)

    Our case here has been documented to be a mutilating palmoplantar Keratoderma. The case is histopathologically confirmed to show Keratinized tissue. The condition as mentioned is extremely rare, where misdiagnosed as Epidermolysis Bullosa Dystrophica. Keywords: Acrodystrophic neuropathy of Bureau and Barriere, ...

  8. Author Details

    African Journals Online (AJOL)

    Hassan, ME. Vol 8, No 4 (2012) - Articles Quality of life and parents' satisfaction with Duhamel's versus transanal endorectal pull-through for the treatment of Hirschsprung's disease in children. Abstract PDF · Vol 9, No 2 (2013) - Articles Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and ...

  9. Jos Journal of Medicine - Vol 4, No 1 (2009)

    African Journals Online (AJOL)

    Recessive Epidermolysis Bullosa simplex- A case report · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. SM Yusuf, AE Uloko, 26-27. http://dx.doi.org/10.4314/jjm.v4i1.55101 ...

  10. Author Details

    African Journals Online (AJOL)

    Omene, J. Vol 39, No 4 (2012) - Articles Epidermolysis bullosa simplex: A case report. Abstract PDF · Vol 40, No 1 (2013) - Articles Congenital tuberculosis: A case report and review of the literature. Abstract PDF. ISSN: 0302-4660. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians ...

  11. Author Details

    African Journals Online (AJOL)

    Demni, K. Vol 8, No 1 (2011) - Articles Genitourinary complications as initial presentation of inherited epidermolysis bullosa. Abstract. ISSN: 0189-6725. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

  12. Browse Title Index

    African Journals Online (AJOL)

    Items 151 - 200 of 488 ... Vol 8, No 1 (2011), Genitourinary complications as initial presentation of inherited epidermolysis bullosa, Abstract. M Arifi, S Arifi, K Demni, MA Bouhafs, R Belkacem, M Barahioui. Vol 9, No 1 (2012), Giant bladder diverticulum : A rare cause of bladder outlet obstruction in children, Abstract.

  13. to view fulltext PDF

    Indian Academy of Sciences (India)

    PRAKASH KUMAR

    2007-04-04

    Apr 4, 2007 ... appearance of keratinopathies, which have been shown to be the direct result of single-point mutations in keratin genes (Coulombe and Omary 2002). Some of the severe skin disorders which result from point mutations include epidermolysis bullosa simplex (mutations in keratin 5/14 genes), epidermolytic.

  14. Pyloric atresia: A report of ten patients | Ksia | African Journal of ...

    African Journals Online (AJOL)

    Pyloric atresia (PA) is uncommon. It occurs in 1:100000 live births. Neonates usually present soon after birth with copious non-bilious vomiting. The treatment is surgical and its prognosis is poor, especially, when it is associated with epidermolysis bullosa (EB). The aim of this study was to evaluate the clinical presentation, ...

  15. Congenital anomalies in black South African liveborn neonates at ...

    African Journals Online (AJOL)

    hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

  16. Browse Title Index

    African Journals Online (AJOL)

    Items 151 - 200 of 483 ... Vol 39, No 4 (2012), Epidermolysis bullosa simplex: A case report, Abstract PDF. O Peterside, OE Kunle-Olowu, OO Adeyemi, FO Akinbami, J Omene. Vol 40, No 1 (2013), Erythrocyte indices of iron status in children with cyanotic congenital heart disease at the University College Hospital, Ibadan ...

  17. Genitourinary complications as initial presentation of inherited ...

    African Journals Online (AJOL)

    Epidermolysis bullosa (EB) is a rare disorder that presents with urological complications. We present a 6-year-old boy admitted with urological symptoms that revealed an inherited EB misdiagnosed. We also review the literature on this disorder and management of the common urological complications.

  18. Congenital pyloric atresia: clinical features, diagnosis, associated ...

    African Journals Online (AJOL)

    Epidermolysis bullosa was seen in eight (40%) patients and multiple intestinal atresias in five (25%). Three patients had associated esophageal atresia. Pyloric diaphragm was the most common and seen in 13 patients including double diaphragms in two followed by pyloric atresia with a gap in four and pyloric atresia ...

  19. Peeling skin in newborn with abdominal distension

    OpenAIRE

    Sujay Kumar Maitra; Nilay Kanti Das; Niharika Ranjan Lal

    2016-01-01

    Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by the formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex, junctional EB, and dystrophic EB. Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia (PA). Among the subtypes, EB with PA is a rare form of EB. We report here a neonate with EB-PA, ...

  20. Immunologically mediated oral diseases

    OpenAIRE

    Jimson, Sudha; Balachader, N.; Anita, N.; Babu, R.

    2015-01-01

    Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect imm...

  1. Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.

    Science.gov (United States)

    Amber, Kyle T; Murrell, Dedee F; Schmidt, Enno; Joly, Pascal; Borradori, Luca

    2018-02-01

    Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. These autoantigens represent structural proteins important for maintenance of dermo-epidermal integrity. Bullous pemphigoid (BP) is the most common subepidermal autoimmune blistering disease of the skin and mucosae. Although the disease typically presents with a generalized blistering eruption associated with itch, atypical variants with either localized bullous lesions or "non-bullous" presentations are observed in approximately 20% of patients. A peculiar form of BP typically associated with pregnancy is pemphigoid gestationis. In anti-p200 pemphigoid, patients present with tense blisters on erythematosus or normal skin resembling BP, with a predilection for acral surfaces. These patients have antibodies targeting the 200-kDa basement membrane protein. Epidermolysis bullosa is a rare autoimmune blistering disease associated with autoantibodies against type VII collagen that can have several phenotypes including a classical form mimicking dystrophic epidermolysis bullosa, an inflammatory presentation mimicking BP, or mucous membrane pemphigoid-like lesions. Mucous membrane pemphigoid (MMP) is the term agreed upon by international consensus for an autoimmune blistering disorder, which affects one or more mucous membrane and may involve the skin. The condition involves a number of different autoantigens in the basement membrane zone. It may result in severe complications from scarring, such as blindness and strictures. Diagnosis of these diseases relies on direct immunofluorescence microscopy studies

  2. Peeling skin in newborn with abdominal distension

    Directory of Open Access Journals (Sweden)

    Sujay Kumar Maitra

    2016-01-01

    Full Text Available Epidermolysis bullosa (EB is a rare hereditary disorder characterized by the formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex, junctional EB, and dystrophic EB. Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia (PA. Among the subtypes, EB with PA is a rare form of EB. We report here a neonate with EB-PA, who, unfortunately, died on the 2nd day of life.

  3. "EB, or Not EB?" Neonatal Desquamative Impetigo in a Degloving Pattern.

    Science.gov (United States)

    Nguyen, Tuyet A; Wang, Audrey S; Eichenfield, Lawrence F; Barrio, Victoria

    2016-01-01

    We present the case of a 7-day-old boy with significant, rapidly spreading blistering and desquamation in a "degloving" pattern on the hands that mimicked epidermolysis bullosa but was ultimately diagnosed as bullous impetigo caused by a clinically aggressive strain of Staphylococcus aureus. Bullous impetigo is a desquamating condition caused by local release of S. aureus exfoliative toxin A and is more commonly seen in children. This case highlights the fragility of newborn skin and reviews the major diagnoses that should be considered in an infant with significant blistering. © 2016 Wiley Periodicals, Inc.

  4. Merosin/laminin-2 and muscular dystrophy

    DEFF Research Database (Denmark)

    Wewer, U M; Engvall, E

    1996-01-01

    structural organization of domains, some of which have been assigned biological activities, including self-assembly and interactions with other proteins. The particular importance of laminins for the formation and stability of cell adhesion complexes is highlighted in severe inherited diseases of muscle...... and skin. Merosin is the collective name for laminins that share a common subunit, the laminin alpha 2 chain. Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. The skin disease Herlitz junctional epidermolysis bullosa is caused by mutations...

  5. A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair

    Directory of Open Access Journals (Sweden)

    Patricia Peking

    2016-01-01

    Full Text Available RNA trans-splicing represents an auspicious option for the correction of genetic mutations at RNA level. Mutations within COL7A1 causing strong reduction or absence of type VII collagen are associated with the severe skin blistering disease dystrophic epidermolysis bullosa. The human COL7A1 mRNA constitutes a suitable target for this RNA therapy approach, as only a portion of the almost 9 kb transcript has to be delivered into the target cells. Here, we have proven the feasibility of 5′ trans-splicing into the Col7a1 mRNA in vitro and in vivo. We designed a 5′ RNA trans-splicing molecule, capable of replacing Col7a1 exons 1–15 and verified it in a fluorescence-based trans-splicing model system. Specific and efficient Col7a1 trans-splicing was confirmed in murine keratinocytes. To analyze trans-splicing in vivo, we used gene gun delivery of a minicircle expressing a FLAG-tagged 5′ RNA trans-splicing molecule into the skin of wild-type mice. Histological and immunofluorescence analysis of bombarded skin sections revealed vector delivery and expression within dermis and epidermis. Furthermore, we have detected trans-spliced type VII collagen protein using FLAG-tag antibodies. In conclusion, we describe a novel in vivo nonviral RNA therapy approach to restore type VII collagen expression for causative treatment of dystrophic epidermolysis bullosa.

  6. Effectiveness and side effects of anti-CD20 therapy for autoantibody-mediated blistering skin diseases: A comprehensive survey of 71 consecutive patients from the Initial use to 2007

    Directory of Open Access Journals (Sweden)

    Jennifer D Peterson

    2008-11-01

    Full Text Available Jennifer D Peterson1, Lawrence S Chan2,3,41Department of Dermatology, Texas Tech University Health Sciences Center at Lubbock, Lubbock, TX, USA; 2Department of Dermatology; 3Department of Microbiology/Immunology, University of Illinois at Chicago, Chicago, IL, USA; 4Medicine Service, Jesse Brown VA Medical Center, Chicago, IL, USAAbstract: In order to examine the efficacy and side effects of the monoclonal antibody anti-CD20 (rituximab on autoimmune blistering skin diseases, we performed a comprehensive survey of 71 consecutive patients from initial use up to 2007, using the PubMed database. A heterogeneous group of patients, including 51 patients with pemphigus vulgaris, one with pemphigus vegetans, nine with pemphigus foliaceus, five with paraneoplastic pemphigus, four with epidermolysis bullosa acquisita, and one with both bullous pemphigoid and graft vs host disease was included in this survey. Overall the monoclonal antibody seems to be effective in that 69% of patients showed complete response, 25% of patients showed partial response, whereas 6% of patients showed progressive disease. Six deaths occurred in association with the treatment, with four of these deaths in patients with paraneoplastic pemphigus, a disease characteristically resistant to conventional medication and with a high mortality rate. Of note, 11 patients who received combined rituximab and intravenous immune globulin treatments had the best outcome: complete response without any serious side effects. Therefore further investigation on rituximab with controlled clinical trial is a worthy pursuit.Keywords: blistering diseases, skin, anti-CD20, pemphigus, epidermolysis bullosa acquisita

  7. Italian ethical committee intervention in a case of embryo-fetal medicine.

    Science.gov (United States)

    Cannovo, Nunzia; Buccelli, Paola; Bryce, Jane

    2011-06-01

    Embryo-fetal experimentation is intuitively associated with a therapeutic intent, according to a consolidated line of thought on the international and national levels. We report on a researcher's request for Ethics Committee approval to perform intrauterine transplantation of stem cells via cordocentesis on a fetus diagnosed with dystrophic epidermolysis bullosa, using stem cells obtained from a sibling's umbilical cord blood. The Ethics Committee rejected the request because of deontological issues and clinical judgments about the potential good to be derived from the procedure. In particular, in this case there was no preclinical or animal research on the procedure, the risk factors for mother and fetus were unknown, there was no way to guarantee compliance with Italian laws regarding safety and quality of the donor cells, and there was lack of clear informed consent.

  8. Novel Molecular Therapies for Heritable Skin Disorders

    Science.gov (United States)

    Uitto, Jouni; Christiano, Angela M.; Irwin McLean, W. H.; McGrath, John A.

    2013-01-01

    Tremendous progress has been made in the past two decades in molecular genetics of heritable skin diseases, and pathogenic mutations have been identified in as many as 500 distinct human genes. This progress has resulted in improved diagnosis with prognostic implications, refined genetic counseling, and has formed the basis for prenatal and presymptomatic testing as well as preimplantation genetic diagnosis. However, there has been relatively little progress in developing effective and specific treatments for these often devastating diseases. Very recently, however, a number of novel molecular strategies, including gene therapy, cell-based approaches, and protein replacement therapy have been explored for treatment of these conditions. This overview will focus on the prototypic heritable blistering disorders, epidermolysis bullosa and related keratinopathies, in which significant progress has been recently made towards treatment, and illustrate how some of the translational research therapies have already entered the clinical arena. PMID:22158553

  9. Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.

    Science.gov (United States)

    Haasnoot, P J; De Vries, A

    2018-01-29

    Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed. Differential diagnoses are considered and therapy is described and discussed. The latest treatment options are used and described. Successful results are achieved in this case due to timely and correct management. Some therapeutic options are widely used without thorough research bases. This case report highlights staphylococcal scalded skin syndrome and its treatment, and future challenges. Further research is warranted and this case report aims to further research in exfoliating skin disorders.

  10. Immunologically mediated oral diseases.

    Science.gov (United States)

    Jimson, Sudha; Balachader, N; Anita, N; Babu, R

    2015-04-01

    Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient.

  11. Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.

    Science.gov (United States)

    Fink, Adam Z; Gittler, Julia K; Nakrani, Radhika N; Alis, Jonathan; Blumfield, Einat; Levin, Terry L

    Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. We review the imaging findings in childhood diseases associated with dermatologic manifestations. Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura). Familiarity with pertinent findings in childhood diseases presenting with dermatologic manifestations in childhood diseases aids the radiologist in confirming the diagnosis and guiding imaging workup. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  13. Immunologically mediated oral diseases

    Directory of Open Access Journals (Sweden)

    Sudha Jimson

    2015-01-01

    Full Text Available Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient.

  14. NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats.

    Science.gov (United States)

    Chen, M; Marinkovich, M P; Jones, J C; O'Toole, E A; Li, Y Y; Woodley, D T

    1999-02-01

    Type VII collagen, the major component of anchoring fibrils, consists of a central collagenous triple-helical domain flanked by two noncollagenous, globular domains, NC1 and NC2. Approximately 50% of the molecular mass of the molecule is consumed by the NC1 domain. We previously demonstrated that NC1 binds to various extracellular matrix components including a complex of laminin 5 and laminin 6 (Chen et al, 1997a). In this study, we examined the interaction of NC1 with laminin 5 (a component of anchoring filaments). Both authentic and purified recombinant NC1 bound to human and rat laminin 5 as measured by enzyme-linked immunosorbant assay and by binding of 125I-radiolabeled NC1 to laminin 5-coated wells, but not to laminin 1 or albumin. NC1 bound predominantly to the beta3 chain of laminin 5, but also to the gamma2 chain when examined by a protein overlay assay. The binding of 125I-NC1 to laminin 5 was inhibited by a 50-fold excess of unlabeled NC1 or de-glycosylated NC1, as well as a polyclonal antibody to laminin 5 or a monoclonal antibody to the beta3 chain. In contrast, the NC1-laminin 5 interaction was not affected by a monoclonal antibody to the alpha3 chain. Using NC1 deletion mutant recombinant proteins, a 285 AA (residues 760-1045) subdomain of NC1 was identified as the binding site for laminin 5. IgG from an epidermolysis bullosa acquisita serum containing autoantibodies to epitopes within NC1 that colocalized with the laminin 5 binding site inhibited the binding of NC1 to laminin 5. Thus, perturbation of the NC1-laminin 5 interaction may contribute to the pathogenesis of epidermolysis bullosa acquisita.

  15. RESUME La pneumatisation, ou concha bullosa du cornet inférieur ...

    African Journals Online (AJOL)

    1- Aydin O. , Ustundag E. , Ciftc E. , Keskin I.G. Pneumatization of the infe- rior turbinate Auris Nasus Larynx 2001 ; 28 :361,363. 2- Ariyurek. OM, Balkanci. F, Aydingoz. U, Onerci. M Pneumatized superior turbinate: A commun anatomic variation ? Surg Radiol Anat 1996; 18: 137-. 139. 3- Bolger. WE, Butzin. CA, Parsons. DS.

  16. All concha bullosa: an undefined abnormality of the lateral nasal wall.

    Science.gov (United States)

    Toplu, Yuksel; Bayindir, Tuba; Karatas, Erkan; Akarcay, Mustafa

    2013-01-01

    Pneumatization of the turbinates, are the anatomic variations of lateral nasal wall. Turbinate pneumatization, refers to the existence of air cell inside the turbinates. Pneumatization of the middle turbinate is common, whereas rare in the superior and especially inferior turbinate. In this report we presented a case who has bilaterally pneumatization of all conchas.

  17. Manufacturing of Human Extracellular Vesicle-Based Therapeutics for Clinical Use

    Directory of Open Access Journals (Sweden)

    Mario Gimona

    2017-06-01

    Full Text Available Extracellular vesicles (EVs derived from stem and progenitor cells may have therapeutic effects comparable to their parental cells and are considered promising agents for the treatment of a variety of diseases. To this end, strategies must be designed to successfully translate EV research and to develop safe and efficacious therapies, whilst taking into account the applicable regulations. Here, we discuss the requirements for manufacturing, safety, and efficacy testing of EVs along their path from the laboratory to the patient. Development of EV-therapeutics is influenced by the source cell types and the target diseases. In this article, we express our view based on our experience in manufacturing biological therapeutics for routine use or clinical testing, and focus on strategies for advancing mesenchymal stromal cell (MSC-derived EV-based therapies. We also discuss the rationale for testing MSC-EVs in selected diseases with an unmet clinical need such as critical size bone defects, epidermolysis bullosa and spinal cord injury. While the scientific community, pharmaceutical companies and clinicians are at the point of entering into clinical trials for testing the therapeutic potential of various EV-based products, the identification of the mode of action underlying the suggested potency in each therapeutic approach remains a major challenge to the translational path.

  18. Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

    Science.gov (United States)

    Spaggiari, Emmanuel; Ruas, Marie; Dreux, Sophie; Valat, Anne-Sylvie; Czerkiewicz, Isabelle; Guimiot, Fabien; Schmitz, Thomas; Delezoide, Anne-Lise; Muller, Françoise

    2013-04-01

    To assess maternal-fetal outcomes in pregnancies associated with persistently elevated second-trimester maternal serum alpha-fetoprotein. A retrospective cohort study in 658 patients with maternal serum alpha-fetoprotein ≥2.5 multiple of median, performed at routine Down syndrome screening. Maternal serum alpha-fetoprotein was assayed a second time in 341 of them. Outcomes were recorded in all cases. The group with unexplained maternal serum alpha-fetoprotein persistently ≥2.5 multiple of median was associated with more pregnancy complications 37 of 92 (40.2%) as fetal death, preeclampsia, intrauterine growth restriction, and congenital nephrotic syndrome, compared with the group with maternal serum alpha-fetoprotein that returned to a normal level 37 of 226 (16.4%) (P alpha-fetoprotein returns to a normal level on a second assay, the risk of adverse outcome significantly decreases, but these pregnancies are still at risk of complications and therefore need close surveillance. Repeat maternal serum alpha-fetoprotein assay allows identification of patients who should be offered amniocentesis to evaluate the risk of nephrotic syndrome and epidermolysis bullosa. Alpha-fetoprotein should be monitored in pregnancies associated with unexplained high maternal serum alpha-fetoprotein. A management strategy based on ultrasound examination, second maternal serum alpha-fetoprotein assay and amniocentesis is proposed to improve prenatal counseling and management of such pregnancies. However, a prospective study remains necessary to evaluate it. Copyright © 2013 Mosby, Inc. All rights reserved.

  19. A case of linear IgA bullous dermatosis with IgA anti-type VII collagen autoantibodies.

    Science.gov (United States)

    Hashimoto, T; Ishiko, A; Shimizu, H; Tanaka, T; Dodd, H J; Bhogal, B S; Black, M M; Nishikawa, T

    1996-02-01

    In this study we present a patient with the sublamina densa type of linear IgA bullous dermatosis (LABD), with IgA autoantibodies reactive with the 290-kDa type VII collagen (the epidermolysis bullosa acquisita (EBA) antigen) and with immunoblotting of normal human dermal extracts. The clinical and histological features of the present case were compatible with those of LABD but quite different from those of EBA. Although EBA sera reacted with the bacterial fusion protein of the N-terminal globular (NC1) domain of type VII collagen, this patient's serum did not show reactivity. Furthermore, ultrastructural localization of target epitopes on the anchoring fibrils in this patient was considerably different from EBA. These results indicate that, whereas EBA antibodies react with the NC1 domain of type VII collagen, the epitope in this case is different from that of EBA (and is most likely on the central triple helical domain). This difference may be responsible for the clinical presentation in this patient being distinct from that of EBA.

  20. Advanced skin, scar and wound care centre for children: A new era of care

    Directory of Open Access Journals (Sweden)

    Andrew Burd

    2012-01-01

    Full Text Available Advanced wound care centres are now a well established response to the growing epidemic of chronic wounds in the adult population. Is the concept transferable to children? Whilst there is not the same prevalence of chronic wounds in children there are conditions affecting the integumentary system that do have a profound effect on the quality of life of both children and their families. We have identified conditions involving the skin, scars and wounds which contribute to a critical number of potential patients that can justify the setting up of an advanced skin, scar and wound care centre for children. The management of conditions such as giant naevi, extensive scarring and epidermolysis bullosa challenge medical professionals and lead to new and novel treatments to be developed. The variation between and within such conditions calls for a customizing of individual patient care that involves a close relationship between research scientists and clinicians. This is translational medicine of its best and we predict that this is the future of wound care particularly and specifically in children.

  1. A model of user engagement in medical device development.

    Science.gov (United States)

    Grocott, Patricia; Weir, Heather; Ram, Mala Bridgelal

    2007-01-01

    The purpose of this paper is to address three topical themes: user involvement in health services research; determining the value of new medical technologies in patient care pathways, furthering knowledge related to quality in health and social care; and knowledge exchange between manufacturers, health service supply chain networks and device users. The model is being validated in a case study in progress. The latter is a "proving ground" study for a translational research company. Medical devices play a pivotal role in the management of chronic diseases, across all care settings. Failure to engage users in device development inevitably affects the quality of clinical outcomes. A model of user engagement is presented, turning unmet needs for medical devices into viable commercial propositions. A case study investigating the perceptions of individuals with Epidermolysis Bullosa (EB), their lay and professional carers into unmet needs. EB is an inherited condition affecting the skin and mucosal linings that leads to blistering and wounds. Qualitative data are being collected to generate understanding of unmet needs and wound care products. These needs are being translated into new design concepts and prototypes. Prototypes will be evaluated in an n = 1 experimental design, generating quantitative outcomes data. There are generalisations from the case study, and the model outlined. New products for managing EB wounds can logically benefit other groups. The model is transferable to other clinical problems, which can benefit from research and technological advances that are integral to clinical needs and care.

  2. Aberrant expression and secretion of heat shock protein 90 in patients with bullous pemphigoid.

    Directory of Open Access Journals (Sweden)

    Stefan Tukaj

    Full Text Available The cell stress chaperone heat shock protein 90 (Hsp90 has been implicated in inflammatory responses and its inhibition has proven successful in different mouse models of autoimmune diseases, including epidermolysis bullosa acquisita. Here, we investigated expression levels and secretory responses of Hsp90 in patients with bullous pemphigoid (BP, the most common subepidermal autoimmune blistering skin disease. In comparison to healthy controls, the following observations were made: (i Hsp90 was highly expressed in the skin of BP patients, whereas its serum levels were decreased and inversely associated with IgG autoantibody levels against the NC16A immunodominant region of the BP180 autoantigen, (ii in contrast, neither aberrant levels of circulating Hsp90 nor any correlation of this protein with serum autoantibodies was found in a control cohort of autoimmune bullous disease patients with pemphigus vulgaris, (iii Hsp90 was highly expressed in and restrictedly released from peripheral blood mononuclear cells of BP patients, and (iv Hsp90 was potently induced in and restrictedly secreted from human keratinocyte (HaCaT cells by BP serum and isolated anti-BP180 NC16A IgG autoantibodies, respectively. Our results reveal an upregulated Hsp90 expression at the site of inflammation and an autoantibody-mediated dysregulation of the intracellular and extracellular distribution of this chaperone in BP patients. These findings suggest that Hsp90 may play a pathophysiological role and represent a novel potential treatment target in BP.

  3. Flame figures in linear IgA bullous dermatosis: a novel histopathologic finding.

    Science.gov (United States)

    Fulton, E; Jan, F; Zimarowski, M J

    2017-11-15

    Linear IgA bullous dermatosis (LABD) is an autoimmune subepidermal blistering disease usually with a neutrophil rich inflammatory infiltrate, and characterized by linear IgA deposition at the basement membrane zone (BMZ), and neutrophil predominant dermal inflammation. We report a case of LABD with numerous eosinophils and flame figure formation, a unique histopathologic finding not previously reported. A 69-year-old woman presented with a rapidly progressive, intensely pruritic rash over forearms, breasts, axillae, hips, and thighs. Thelesions were comprised of annular vesicles and bullae with hemorrhagic crusts and erosions. The clinical differential diagnosis included bullous pemphigoid(BP), LABD, and epidermolysis bullosa aquisita (EBA). A biopsy from a bullous plaque on the wrist revealed a subepidermal blister with neutrophils and numerous eosinophils with flame figure formation.Direct immunofluorescent (DIF) microscopy revealed linear deposition of IgA at the BMZ. Although unusual, the combined findings supported a diagnosis of LABD. Increased eosinophils may be associated with drug-induced LABD and may explain the numerous eosinophils in our case. It is important to be aware of this finding as the pathology may easily be misdiagnosed as BP, or possibly bullousWells syndrome. This case emphasizes that combined clinical, pathologic, and DIF findings are essential in the diagnosis of bullous dermatoses.

  4. BP180 dysfunction triggers spontaneous skin inflammation in mice.

    Science.gov (United States)

    Zhang, Yang; Hwang, Bin-Jin; Liu, Zhen; Li, Ning; Lough, Kendall; Williams, Scott E; Chen, Jinbo; Burette, Susan W; Diaz, Luis A; Su, Maureen A; Xiao, Shengxiang; Liu, Zhi

    2018-06-04

    BP180, also known as collagen XVII, is a hemidesmosomal component and plays a key role in maintaining skin dermal/epidermal adhesion. Dysfunction of BP180, either through genetic mutations in junctional epidermolysis bullosa (JEB) or autoantibody insult in bullous pemphigoid (BP), leads to subepidermal blistering accompanied by skin inflammation. However, whether BP180 is involved in skin inflammation remains unknown. To address this question, we generated a BP180-dysfunctional mouse strain and found that mice lacking functional BP180 (termed Δ NC16A ) developed spontaneous skin inflammatory disease, characterized by severe itch, defective skin barrier, infiltrating immune cells, elevated serum IgE levels, and increased expression of thymic stromal lymphopoietin (TSLP). Severe itch is independent of adaptive immunity and histamine, but dependent on increased expression of TSLP by keratinocytes. In addition, a high TSLP expression is detected in BP patients. Our data provide direct evidence showing that BP180 regulates skin inflammation independently of adaptive immunity, and BP180 dysfunction leads to a TSLP-mediated itch. The newly developed mouse strain could be a model for elucidation of disease mechanisms and development of novel therapeutic strategies for skin inflammation and BP180-related skin conditions.

  5. Innate sensing of microbial products promotes wound-induced skin cancer

    Science.gov (United States)

    Hoste, Esther; Arwert, Esther N.; Lal, Rohit; South, Andrew P.; Salas-Alanis, Julio C.; Murrell, Dedee F.; Donati, Giacomo; Watt, Fiona M.

    2015-01-01

    The association between tissue damage, chronic inflammation and cancer is well known. However, the underlying mechanisms are unclear. Here we characterize a mouse model in which constitutive epidermal extracellular-signal-regulated kinase-MAP-kinase signalling results in epidermal inflammation, and skin wounding induces tumours. We show that tumour incidence correlates with wound size and inflammatory infiltrate. Ablation of tumour necrosis factor receptor (TNFR)-1/-2, Myeloid Differentiation primary response gene 88 or Toll-like receptor (TLR)-5, the bacterial flagellin receptor, but not other innate immune sensors, in radiosensitive leukocytes protects against tumour formation. Antibiotic treatment inhibits, whereas injection of flagellin induces, tumours in a TLR-5-dependent manner. TLR-5 is also involved in chemical-induced skin carcinogenesis in wild-type mice. Leukocytic TLR-5 signalling mediates upregulation of the alarmin HMGB1 (High Mobility Group Box 1) in wound-induced papillomas. HMGB1 is elevated in tumours of patients with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chronic skin damage. We conclude that in our experimental model the combination of bacteria, chronic inflammation and wounding cooperate to trigger skin cancer. PMID:25575023

  6. Epidermólisis bulosa en el niño y anestesia

    Directory of Open Access Journals (Sweden)

    Joaquín L. de la Lastra Rodríguez

    1999-06-01

    Full Text Available La epidermólisis bulosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y mucosas de origen congénito y hereditario. El tratamiento es insatisfactorio en gran parte, por lo cual son necesarias ciertas medidas para proteger al paciente y evitar la aparición de dichas lesiones y sus complicaciones. Se describe el manejo anestesiológico en un niño de 3 años de edad, al que se le administró anestesia general intravenosa con clorhidrato de ketamina y diazepán, y se describen todos los cuidados y recomendaciones que hay que tener para evitar especialmente los roces, las presiones y las temperaturas altas.Epidermolysis bullosa is a heterogenous group of ampullary diseases of the skin and mucosas of congenital and hereditary origin. The treatment is largely unsatisfactory, and that´s why it is necessary to take some measures to protect the patient and to prevent the appareance of such lesions and their complications. It is described the anesthetic management of a 3-year-old child that was administered intravenous general anesthesia with ketamine hydrochlorate and diazepam. The care and recommendations that should be taken into account to avoid touches, pressures and high temperatures, are described.

  7. Botanicals With Dermatologic Properties Derived From First Nations Healing: Part 1-Trees.

    Science.gov (United States)

    Colantonio, Sophia; Rivers, Jason K

    First Nations people have a long history of working with medicinal plants used to treat skin diseases. The purpose was to assess the dermatologic therapeutic potential of western red cedar, white spruce, birch, balsam poplar, and black spruce. Based on expert recommendations, 5 trees were selected that were used in First Nations medicine for cutaneous healing and have potential and/or current application to dermatology today. We searched several databases up to June 12, 2014. Western red cedar's known active principal compound, β-thujaplicin, has been studied in atopic dermatitis. White spruce's known active principal compound, 7-hydroxymatairesinol, has anti-inflammatory activity, while phase II clinical trials have been completed on a birch bark emulsion for the treatment of actinic keratoses, epidermolysis bullosa, and the healing of split thickness graft donor sites. Balsam poplar has been used clinically as an anti-aging remedy. Black spruce bark contains higher amounts of the anti-oxidant trans-resveratrol than red wine. North American traditional medicine has identified important botanical agents that are potentially relevant to both cosmetic and medical dermatology. This study is limited by the lack of good quality evidence contributing to the review. The article is limited to 5 trees, a fraction of those used by First Nations with dermatological properties.

  8. Mesenchymal Stem Cells for the Treatment of Skin Diseases

    Directory of Open Access Journals (Sweden)

    Toshio Hasegawa

    2017-08-01

    Full Text Available Mesenchymal stem cell (MSC-based therapy involving both autologous and allogeneic MSCs shows great promise in treating several conditions. MSCs promote wound healing, and can differentiate into multiple cell lineages, including keratinocytes. Therefore, MSCs can be used for the treatment of congenital or acquired skin defects. Because of their immunomodulatory properties, MSCs may be useful for the treatment of inflammatory and autoimmune skin diseases. In particular, MSCs might be effective for the treatment of large vitiligo lesions as immunosuppressant or cultured grafts. MSCs can also be a novel cell source for regenerating hair in the treatment of scarring alopecia and androgenic alopecia. MSCs might also be an effective treatment for alopecia areata, which is associated with autoimmunity. Stem cell therapies with topical administration of MSCs and bone marrow transplantation were shown to alleviate recessive dystrophic epidermolysis bullosa in both animal models and human subjects. In addition to cell transplantation, the mobilization of endogenous MSCs has been attempted for skin regeneration. Overall, this review highlights the great potential of MSCs for the treatment of skin diseases in the near future.

  9. Biocompatibility of electrospun human albumin: a pilot study.

    Science.gov (United States)

    Noszczyk, B H; Kowalczyk, T; Łyżniak, M; Zembrzycki, K; Mikułowski, G; Wysocki, J; Kawiak, J; Pojda, Z

    2015-03-02

    Albumin is rarely used for electrospinning because it does not form fibres in its native globular form. This paper presents a novel method for electrospinning human albumin from a solution containing pharmaceutical grade protein and 25% polyethylene oxide (PEO) used as the fibre-forming agent. After spontaneous cross-linking at body temperature, with no further chemicals added, the fibres become insoluble and the excess PEO can be washed out. Albumin deposited along the fibres retains its native characteristics, such as its non-adhesiveness to cells and its susceptibility for degradation by macrophages. To demonstrate this we evaluated the mechanical properties, biocompatibility and biodegradability of this novel product. After subcutaneous implantation in mice, albumin mats were completely resorbable within six days and elicited only a limited local inflammatory response. In vitro, the mats suppressed cell attachment and migration. As this product is inexpensive, produced from human pharmaceutical grade albumin without chemical modifications, retains its native protein properties and fulfils the specific requirements for anti-adhesive dressings, its clinical use can be expedited. We believe that it could specifically be used when treating paediatric patients with epidermolysis bullosa, in whom non-healing wounds occur after minor hand injuries which lead to rapid adhesions and devastating contractures.

  10. Evaluation of the effect and mechanism of action of local phenytoin in treatment of vitiligo.

    Science.gov (United States)

    Abdou, Asmaa Gaber; Abdelwahed Gaber, Mohammed; Elnaidany, Nada Farag; Elnagar, Ayat

    2017-01-01

    There are many theories explaining vitiligo such as genetic, autoimmune, neural, free radicals, biochemical, intrinsic defect, melanocytorrhagy, and convergent theories. Phenytoin is a widely used anticonvulsant, which is used in cutaneous medicine for treatment of ulcers and epidermolysis bullosa. The aim of this study is to assess the effectiveness of topical phenytoin gel in the treatment of vitiligo patients and explaining the underlying mechanism using immunohistochemistry for evaluation of HMB45, CD4, and CD8. Only 9 patients out of 28 experienced response to phenytoin in the form of dull, white color change and light brown color. Post-phenytoin treatment biopsies showed decreased density of inflammation, increased melanin and increased HMB45 positive cells together with an increased number of CD4 positive lymphocytes and decreased number of CD8 positive lymphocytes. These observations did not reach significant level (P > 0.05). A high percentage of CD4 positive lymphocytes was significantly associated with a long duration of vitiligo (p = 0.03) and segmental vitiligo type (p = 0.02). The current study applied phenytoin as 2% concentrated gel for 3 months, which is a relatively short duration without observed side effects throughout the period. These results indicate that topical phenytoin of low concentrations may have beneficial effects through immunomodulatory activity by affecting CD4 and CD8 counts and subsequently the ratio between them. Further studies are recommended to combine phenytoin with other antivitiligo agents as local corticosteroids or phototherapy to clarify if it could potentiate their effects.

  11. Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

    Science.gov (United States)

    Poulter, James A; El-Sayed, Walid; Shore, Roger C; Kirkham, Jennifer; Inglehearn, Chris F; Mighell, Alan J

    2014-01-01

    The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identification of a frameshift mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome sequencing of three affected family members and subsequent filtering of shared variants, without prior genetic linkage, sufficed to identify the pathogenic variant. Simultaneous analysis of multiple family members confirms segregation, enhancing the power to filter the genetic variation found and leading to rapid identification of the pathogenic variant. LAMB3 encodes a subunit of Laminin-5, one of a family of basement membrane proteins with essential functions in cell growth, movement and adhesion. Homozygous LAMB3 mutations cause junctional epidermolysis bullosa (JEB) and enamel defects are seen in JEB cases. However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB.

  12. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

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    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  13. Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

    Science.gov (United States)

    Garcelon, Nicolas; Neuraz, Antoine; Benoit, Vincent; Salomon, Rémi; Kracker, Sven; Suarez, Felipe; Bahi-Buisson, Nadia; Hadj-Rabia, Smail; Fischer, Alain; Munnich, Arnold; Burgun, Anita

    2017-09-01

    In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records. We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Our model was based on a vector space model (VSM) to compute the similarity distance between an index patient and all the patients of the data warehouse. The dimensions of the VSM were built upon Unified Medical Language System concepts extracted from clinical narratives stored in the clinical data warehouse. The VSM was enhanced using three parameters: a pertinence score (TF-IDF of the concepts), the polarity of the concept (negated/not negated) and the minimum number of concepts in common. We evaluated this model by displaying the most similar patients for five different rare diseases: Lowe Syndrome (LOWE), Dystrophic Epidermolysis Bullosa (DEB), Activated PI3K delta Syndrome (APDS), Rett Syndrome (RETT) and Dowling Meara (EBS-DM), from the clinical data warehouse representing 18, 103, 21, 84 and 7 patients respectively. The percentages of index patients returning at least one true positive similar patient in the Top30 similar patients were 94% for LOWE, 97% for DEB, 86% for APDS, 71% for EBS-DM and 99% for RETT. The mean number of patients with the exact same genetic diseases among the 30 returned patients was 51%. This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Copyright © 2017. Published by Elsevier Inc.

  14. Balloon dilatation in children for oesophageal strictures other than those due to primary repair of oesophageal atresia, interposition or restrictive fundoplication

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    Fasulakis, Stephen; Andronikou, Savvas

    2003-01-01

    Balloon dilatation of the oesophagus in children has been performed predominantly for treating strictures, which are the result of primary repair of oesophageal atresia, interposition surgery or restrictive Nissen's fundoplication. Reports of the use of this technique for alternative causes of stricture are few. To report our experience and success with balloon dilatation of strictures due to caustic ingestion, achalasia, oesophagitis, congenital stenosis, and epidermolysis bullosa (EB) and to make comparisons with our treatment of patients with primary repair of oesophageal atresia (OA), as well as with reports in the English language literature. Retrospective review of fluoroscopically guided balloon oesophageal dilatation procedures in 19 patients over a 5-year period, and comparison of those performed for OA repair complications with those due to other diseases. The average radiation dose, per procedure, was calculated by a medical physicist. Ten patients had strictures as a result of primary repair of OA. Three patients had stricture as a result of EB, two from achalasia, two from caustic injury, one due to an oesophageal web and one from reflux oesophagitis. Our results show that the technique can also be curative for the last group and that it may be used intermittently to alleviate symptoms in ongoing diseases. We have not experienced any complications and have also calculated that, even with prolonged use of multiple procedures, the radiation exposure is comparable to other radiological techniques. Patients with alternative causes for oesophageal stricture may be treated to resolution within 2 years using balloon dilatation. Ongoing diseases such as EB require ongoing dilatation, but balloon dilatation of strictures has been successful in alleviating swallowing difficulty. Patients with stricture from OA repair sometimes need ongoing dilatation. Radiation exposure for multiple procedures, over an extended period, is comparable to that from a single

  15. Balloon dilatation in children for oesophageal strictures other than those due to primary repair of oesophageal atresia, interposition or restrictive fundoplication

    Energy Technology Data Exchange (ETDEWEB)

    Fasulakis, Stephen [Royal Children' s Hospital, Melbourne (Australia); Andronikou, Savvas [Royal Children' s Hospital, Melbourne (Australia); Department of Paediatric Radiology, Red Cross Children' s Hospital, Klipfontein Road, Rondebosch, 7700, Cape Town (South Africa)

    2003-10-01

    Balloon dilatation of the oesophagus in children has been performed predominantly for treating strictures, which are the result of primary repair of oesophageal atresia, interposition surgery or restrictive Nissen's fundoplication. Reports of the use of this technique for alternative causes of stricture are few. To report our experience and success with balloon dilatation of strictures due to caustic ingestion, achalasia, oesophagitis, congenital stenosis, and epidermolysis bullosa (EB) and to make comparisons with our treatment of patients with primary repair of oesophageal atresia (OA), as well as with reports in the English language literature. Retrospective review of fluoroscopically guided balloon oesophageal dilatation procedures in 19 patients over a 5-year period, and comparison of those performed for OA repair complications with those due to other diseases. The average radiation dose, per procedure, was calculated by a medical physicist. Ten patients had strictures as a result of primary repair of OA. Three patients had stricture as a result of EB, two from achalasia, two from caustic injury, one due to an oesophageal web and one from reflux oesophagitis. Our results show that the technique can also be curative for the last group and that it may be used intermittently to alleviate symptoms in ongoing diseases. We have not experienced any complications and have also calculated that, even with prolonged use of multiple procedures, the radiation exposure is comparable to other radiological techniques. Patients with alternative causes for oesophageal stricture may be treated to resolution within 2 years using balloon dilatation. Ongoing diseases such as EB require ongoing dilatation, but balloon dilatation of strictures has been successful in alleviating swallowing difficulty. Patients with stricture from OA repair sometimes need ongoing dilatation. Radiation exposure for multiple procedures, over an extended period, is comparable to that from a single

  16. The Effect of Autologous Serum Eye Drop Application on Epithelization in the Treatment of Various Ocular Surface Disorders and its Safety

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    Fatma Selin Kaya

    2012-10-01

    Full Text Available Pur po se: To evaluate the effect of autologous serum application on epithelization in the treatment of ocular surface disorders in hard cases and its safety. Ma te ri al and Met hod: Patients with serious ocular surface disorders, unresponsive to conventional treatment were recruited. Clinical features of retrospective cohort of patients who were prescribed serum drops are presented. From July 2007 to January 2010, 31 eyes of 21 patients, who were given autologous serum eye drops, were included into the study. Clinical examination included epithelial changes, rose bengal/lissamine green staining, fluorescein staining, and tear film break-up time. A history of systemic disease was recorded together with systemic medications used. A complete ocular history was also obtained. Re sults: Autologous serum was used in 7 patients with delayed epithelization after penetrating keratoplasty, in 4 patients with epithelial disturbances secondary to keratitis, in 2 patients with alkali burns, in 3 patients with Stevens-Johnson syndrome, in 1 patient with ligneous conjunctivitis, in 1 patient with epidermolysis bullosa, in 1 patient with corneal burn with hot water, and in 2 patients with Sjogren syndrome. The female:male ratio was 13:8. The mean age was 36.23±24.80 standard deviation (range: 7 months-87 years. No significant sight-threatening complication has been observed with the use of serum drops. Dis cus si on: Autologous serum application is safe and efficient additional therapy in the treatment of serious ocular surface problems in difficult cases. (Turk J Ophthalmol 2012; 42: 336-41

  17. Dental implants in patients with oral mucosal diseases - a systematic review.

    Science.gov (United States)

    Reichart, P A; Schmidt-Westhausen, A M; Khongkhunthian, P; Strietzel, F P

    2016-05-01

    To reveal dental implants survival rates in patients with oral mucosal diseases: oral lichen planus (OLP), Sjögren's syndrome (SjS), epidermolysis bullosa (EB) and systemic sclerosis (SSc). A systematic literature search using PubMed/Medline and Embase databases, utilising MeSH and search term combinations identified publications on clinical use implant-prosthetic rehabilitation in patients with OLP, SjS, EB, SSc reporting on study design, number, gender and age of patients, follow-up period exceeding 12 months, implant survival rate, published in English between 1980 and May 2015. After a mean observation period (mOP) of 53·9 months (standard deviation [SD] ±18·3), 191 implants in 57 patients with OLP showed a survival rate (SR) of 95·3% (SD ±21·2). For 17 patients with SjS (121 implants, mOP 48·6 ± 28·7 months), 28 patients with EB (165 implants, mOP 38·3 ± 16·9 months) and five patients with SSc (38 implants, mOP 38·3 ± 16·9 months), the respective SR was 91·7 ± 5·97% (SjS), 98·5 ± 2·7% (EB) and 97·4 ± 4·8% (SSc). Heterogeneity of data structure and quality of reporting outcomes did not allow for further comparative data analysis. For implant-prosthetic rehabilitation of patients suffering from OLP, SjS, EB and SSc, no evidence-based treatment guidelines are presently available. However, no strict contraindication for the placement of implants seems to be justified in patients with OLP, SjS, EB nor SSc. Implant survival rates are comparable to those of patients without oral mucosal diseases. Treatment guidelines as for dental implantation in patients with healthy oral mucosa should be followed. © 2015 John Wiley & Sons Ltd.

  18. Gene and cell therapy for children--new medicines, new challenges?

    Science.gov (United States)

    Buckland, Karen F; Bobby Gaspar, H

    2014-06-01

    The range of possible gene and cell therapy applications is expanding at an extremely rapid rate and advanced therapy medicinal products (ATMPs) are currently the hottest topic in novel medicines, particularly for inherited diseases. Paediatric patients stand to gain enormously from these novel therapies as it now seems plausible to develop a gene or cell therapy for a vast number of inherited diseases. There are a wide variety of potential gene and cell therapies in various stages of development. Patients who received first gene therapy treatments for primary immune deficiencies (PIDs) are reaching 10 and 15 years post-treatment, with robust and sustained immune recovery. Cell therapy clinical trials are underway for a variety of tissues including corneal, retinal and muscle repair and islet cell transplantation. Various cell therapy approaches are also being trialled to enhance the safety of bone marrow transplants, which should improve survival rates in childhood cancers and PIDs. Progress in genetic engineering of lymphocyte populations to target and kill cancerous cells is also described. If successful these ATMPs may enhance or replace the existing chemo-ablative therapy for several paediatric cancers. Emerging applications of gene therapy now include skin and neurological disorders such as epidermolysis bullosa, epilepsy and leukodystrophy. Gene therapy trials for haemophilia, muscular dystrophy and a range of metabolic disorders are underway. There is a vast array of potential advanced therapy medicinal products (ATMPs), and these are likely to be more cost effective than existing medicines. However, the first clinical trials have not been without setbacks and some of the key adverse events are discussed. Furthermore, the arrival of this novel class of therapies brings many new challenges for the healthcare industry. We present a summary of the key non-clinical factors required for successful delivery of these potential treatments. Technological advances

  19. Gene and cell therapy for children — New medicines, new challenges?☆

    Science.gov (United States)

    Buckland, Karen F.; Bobby Gaspar, H.

    2014-01-01

    The range of possible gene and cell therapy applications is expanding at an extremely rapid rate and advanced therapy medicinal products (ATMPs) are currently the hottest topic in novel medicines, particularly for inherited diseases. Paediatric patients stand to gain enormously from these novel therapies as it now seems plausible to develop a gene or cell therapy for a vast number of inherited diseases. There are a wide variety of potential gene and cell therapies in various stages of development. Patients who received first gene therapy treatments for primary immune deficiencies (PIDs) are reaching 10 and 15 years post-treatment, with robust and sustained immune recovery. Cell therapy clinical trials are underway for a variety of tissues including corneal, retinal and muscle repair and islet cell transplantation. Various cell therapy approaches are also being trialled to enhance the safety of bone marrow transplants, which should improve survival rates in childhood cancers and PIDs. Progress in genetic engineering of lymphocyte populations to target and kill cancerous cells is also described. If successful these ATMPs may enhance or replace the existing chemo-ablative therapy for several paediatric cancers. Emerging applications of gene therapy now include skin and neurological disorders such as epidermolysis bullosa, epilepsy and leukodystrophy. Gene therapy trials for haemophilia, muscular dystrophy and a range of metabolic disorders are underway. There is a vast array of potential advanced therapy medicinal products (ATMPs), and these are likely to be more cost effective than existing medicines. However, the first clinical trials have not been without setbacks and some of the key adverse events are discussed. Furthermore, the arrival of this novel class of therapies brings many new challenges for the healthcare industry. We present a summary of the key non-clinical factors required for successful delivery of these potential treatments. Technological advances

  20. HLA-DPDQDR is expressed in all lesional skin from patients with autoimmune skin diseases

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    Ana Maria Abreu Velez

    2014-04-01

    Full Text Available Introduction: Human genes responsible for human antigen presentation and transplant rejection functions are located on the short arm of Chromosome 6 and are called the Major Histocompatibility Complex (MHC. Moreover, the primary physiologic function of MHC molecules is to present peptides to T lymphocytes. MHC molecules are integral components of the ligands that most T cells recognize, since the T cell receptor (TCR has specificity for complexes of foreign antigenic peptides, as well as self-MHC molecules. Aim: Our investigation attempts to investigate the presence of HLA-DPDQDR within lesional skin biopsies from patients affected by autoimmune skin blistering diseases (ABDs. Materials and Methods: We utilized immunohistochemistry (IHC to evaluate the presence of HLA-DPDQDR in lesional skin biopsies of patients affected by ABDs. We tested 30 patients with endemic pemphigus foliaceus (EPF, 15 controls from the EPF endemic area, and 15 biopsies from healthy controls from the USA. We also tested archival biopsies from patients with selected ABDs, including 30 patients with bullous pemphigoid (BP, 20 with pemphigus vulgaris (PV, 8 with pemphigus foliaceus (PF, 14 with dermatitis herpetiformis (DH and 2 with epidermolysis bullosa acquisita (EBA. Results: Most ABD biopsies stained positive for HLA-DPDQDR in the lesional blisters and/or inflamed neurovascular plexus in the superficial dermis, and also at mesenchymal-endothelial like-cell junctions in the dermis. In BP, EBA and EPF, the HLA-DPDQDR staining was also seen in the dermal eccrine sweat gland coils and and ducts. Conclusion: Here, we document that HLA-DPDQDR is expressed in several anatomic areas of lesional skin in patients with ABDs. Notably, HLA-DPDQDR positivity was also consistently present in areas of the classic immune response in pemphigus epidermal keratinocytic intercellular junctions, and at basement membrane sites in bullous pemphigoid and other subepidermal blistering diseases.

  1. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Science.gov (United States)

    Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man

    2015-01-01

    Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  2. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Directory of Open Access Journals (Sweden)

    Xin Wang

    Full Text Available Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI. Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB, while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16 in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11 in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  3. Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

    Science.gov (United States)

    Szczecinska, W; Nesteruk, D; Wertheim-Tysarowska, K; Greenblatt, D T; Baty, D; Browne, F; Liu, L; Ozoemena, L; Terron-Kwiatkowski, A; McGrath, J A; Mellerio, J E; Morton, J; Woźniak, K; Kowalewski, C; Has, C; Moss, C

    2014-11-01

    Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5). We investigated the mutation spectrum of APSS in the U.K., Germany and Poland. We identified 59 children with APSS from 52 families. The phenotype was readily recognizable, with some variation in severity both within and between families. Most cases had been misdiagnosed as the localized form of epidermolysis bullosa simplex (EBS-loc). Eighteen different TGM5 mutations were identified, 15 of which were novel. Eight mutations were unique to a single family, nine each occurred in two families, while the common p.Gly113Cys mutation linked to a second missense variant p.Thr109Met occurred in 47 of the 52 families and was homozygous in 28. Most patients were of nonconsanguineous white European origin. We propose that APSS is under-reported and widely misdiagnosed as EBS-loc, with significant counselling implications as APSS is autosomal recessive while EBS-loc is dominant. We recommend screening for TGM5 mutations when EBS-loc is suspected but not confirmed by mutations in KRT5 or KRT14. Our report trebles the number of known TGM5 mutations. It provides further evidence that p.Gly113Cys is a founder mutation in the European population. This is consistent with the striking ethnic distribution of APSS in U.K., where the majority of patients are of nonconsanguineous white European origin, in contrast to the pattern of other recessive skin disorders. © 2014 British Association of Dermatologists.

  4. STUDY ON NONINFECTIOUS DERMATOSES IN PAEDIATRIC AGE

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    Ananthi Mahalingam

    2017-09-01

    Full Text Available BACKGROUND Paediatric dermatology is a unique subspecialty in that child is not a miniature adult. Paediatric dermatoses differ from that of the adults in clinical presentation, treatment and prognosis. Various studies from India have shown infections and infestations to be the most common paediatric dermatoses. This study was planned to determine the epidemiological pattern of common noninfectious dermatoses in our paediatric patients as no such data are available from this part of the country. A cross-sectional study was undertaken to study the prevalence of the noninfectious dermatoses in all the new paediatric patients attending the Skin Outpatient Department (OPD at Villupuram Medical College over a period of three years. MATERIALS AND METHODS A total number of 550 children in the age group ranging from newborn to 12 years with noninfectious dermatoses attending the OPD for the first time were enrolled in the study. RESULTS Physiological changes of skin was the most common dermatoses in the newborn age group, while eczema was the most common dermatoses in infants, preschool and school going children. In the infants, eczema was followed by pigmentary disorders, mongolian spots, vascular nevi, ichthyosis, epidermolysis bullosa, alopecia areata and papular urticaria in the order of prevalence. Among preschool going children, eczema was followed by papular urticaria, papulosquamous disorders, pigmentary disorders, hair disorders, nevi, drug reactions, keratinisation disorders, urticaria, etc. In the school going age group, eczema was followed by papulosquamous disorders, pigmentary disorders, papular urticaria, nutritional disorders, ichthyosis, nevi, miliaria, drug reaction, hair disorders, photodermatoses, urticaria, collagen vascular disease and vascular nevi in the order of prevalence. CONCLUSION Eczema, papulosquamous disorders, papular urticaria, pigmentary disorders seem to be the most common noninfectious dermatoses in children. However

  5. Next generation human skin constructs as advanced tools for drug development.

    Science.gov (United States)

    Abaci, H E; Guo, Zongyou; Doucet, Yanne; Jacków, Joanna; Christiano, Angela

    2017-11-01

    Many diseases, as well as side effects of drugs, manifest themselves through skin symptoms. Skin is a complex tissue that hosts various specialized cell types and performs many roles including physical barrier, immune and sensory functions. Therefore, modeling skin in vitro presents technical challenges for tissue engineering. Since the first attempts at engineering human epidermis in 1970s, there has been a growing interest in generating full-thickness skin constructs mimicking physiological functions by incorporating various skin components, such as vasculature and melanocytes for pigmentation. Development of biomimetic in vitro human skin models with these physiological functions provides a new tool for drug discovery, disease modeling, regenerative medicine and basic research for skin biology. This goal, however, has long been delayed by the limited availability of different cell types, the challenges in establishing co-culture conditions, and the ability to recapitulate the 3D anatomy of the skin. Recent breakthroughs in induced pluripotent stem cell (iPSC) technology and microfabrication techniques such as 3D-printing have allowed for building more reliable and complex in vitro skin models for pharmaceutical screening. In this review, we focus on the current developments and prevailing challenges in generating skin constructs with vasculature, skin appendages such as hair follicles, pigmentation, immune response, innervation, and hypodermis. Furthermore, we discuss the promising advances that iPSC technology offers in order to generate in vitro models of genetic skin diseases, such as epidermolysis bullosa and psoriasis. We also discuss how future integration of the next generation human skin constructs onto microfluidic platforms along with other tissues could revolutionize the early stages of drug development by creating reliable evaluation of patient-specific effects of pharmaceutical agents. Impact statement Skin is a complex tissue that hosts various

  6. Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions.

    Science.gov (United States)

    Cohen, Philip R

    2011-08-01

    Longitudinal erythronychia is a linear red band on the nail plate that originates at the proximal nail fold, traverses the lunula, and extends to the free edge of the nail plate. Longitudinal erythronychia is classified based upon the number of nails affected and the number of red streaks present on each nail as follows: type Ia (monodactylous - single band), type Ib (monodactylous - bifid bands), type IIa (polydactylous - single band), and type IIb (polydactylous - multiple bands). Associated morphologic findings that can be present at the distal tip of the nail with longitudinal erythronychia include fragility, onycholysis, splinter hemorrhage, splitting, subungual keratosis, thinning, and V-shaped nick. Some patients with longitudinal erythronychia seek medical evaluation because of pain in the associated distal digit; however, the linear red nail plate dyschromia is often asymptomatic and the individual is concerned about the cosmetic appearance or distal nail fragility. Longitudinal erythronychia can be a clinical manifestation of an underlying local or systemic condition. Benign tumors (glomus tumor, onychopapilloma, and warty dyskeratoma), malignant neoplasms (malignant melanoma and squamous cell carcinoma), and other conditions (hemiplegia and postsurgical scar) can be associated with monodactylous longitudinal erythronychia or it may be idiopathic or the initial stage of polydactylous longitudinal erythronychia-associated systemic conditions. Polydactylous longitudinal erythronychia is most commonly reported in patients with Darier disease (keratosis follicularis); other associated conditions include acantholytic dyskeratotic epidermal nevus, acantholytic epidermolysis bullosa, acrokeratosis verruciformis of Hopf, amyloidosis, graft-versus-host disease, lichen planus, and pseudobulbar syndrome. Polydactylous longitudinal erythronychia has also been observed as an idiopathic finding. Biopsy of the nail matrix and nail bed may be necessary to establish the

  7. Diseases and disorders of muscle.

    Science.gov (United States)

    Pearson, A M; Young, R B

    1993-01-01

    periodic paralysis, and malignant hyperexia). Diseases of the connective tissues discussed include those of nutritional origin (scurvy, lathyrism, starvation, and protein deficiency), the genetic diseases (dermatosparaxis, Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, homocystinuria, alcaptonuria, epidermolysis bullosa, rheumatoid arthritis in humans, polyarthritis in swine, Aleutian disease of mink, and the several types of systemic lupus erythematosus) and the acquired diseases of connective tissues (abnormal calcification, systemic sclerosis, interstitial lung disease, hepatic fibrosis, and carcinomas of the connective tissues). Several of the diseases of connective tissues may prove to be useful models for determining the relationship of collagen to meat tenderness and its other physical properties. Several other promising models for studying the nutrition-related disorders and the quality-related characteristics of meat are also reviewed.

  8. Impetigo asacause of sepsis ininfants

    Directory of Open Access Journals (Sweden)

    Alicja Moes-Wójtowicz

    2015-06-01

    Full Text Available Impetigo is a fairly common disease of the childhood. This infection exists in two distinct forms: bullous and non-bullous impetigo. In non-bullous impetigo, a tiny vesicle or pustule shows initially and after 4–6 days develops into a honey-coloured crusted plaque. Bullous impetigo is always caused by Staphylococcus aureus, a bacterium that produces exfoliative toxins (ETA and ETB. Infection is limited to the superficial layers of the skin, and skin changes typically occur on the face and limbs. The disease is most prevalent in children aged 2 to 5, but it can occur at any age. The treatment involves topical or systemic antibiotics depending on the severity of symptoms and the patient’s condition. The differential diagnosis of impetigo includes: staphylococcal scalded-skin syndrome, Herpes simplex infection, eosinophilic pustular folliculitis, epidermolysis bullosa, pemphigus and pemphigoid. The differentiation between impetigo and staphylococcal scalded-skin syndrome can be challenging. Both diseases are caused by the same strain of Staphylococcus aureus that produces exfoliative toxins. However, in impetigo toxins are produced only within skin lesions whereas in staphylococcal scalded-skin syndrome, toxins are produced in organs colonised by Staphylococcus aureus and then released systemically. In the course of staphylococcal scalded-skin syndrome severe tenderness of the skin and a positive Nikolsky’s sign are observed. The paper presents two cases of impetigo in infants. In both cases, the correct diagnosis was not established immediately, which delayed appropriate treatment. In one of the cases, due to the imprecise initial diagnosis and the lack of the holistic approach to the patient, a correct diagnosis was established so late, that a systemic infection developed.

  9. A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases.

    Science.gov (United States)

    Lee, Brendon W H; Tan, Jeremy C K; Radjenovic, Melissa; Coroneo, Minas T; Murrell, Dedee F

    2018-05-22

    Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD. Secondly, to review and evaluate existing ocular and systemic scoring systems for EB/AIBD. Finally, to identify areas where further development of ocular specific tools in EB/AIBD could be pursued. A literature search was performed in October 2017 utilising Medline, Embase, and Scopus databases. The results were restricted by date of publication, between 01.01.1950 and 31.10.2017. The reference lists of these articles were then reviewed for additional relevant publications. Articles of all languages were included if an English translation was available. Articles were excluded if they were duplicates, had no reference to ocular involvement in EB/AIBD or described ocular involvement in other diseases. Descriptions of ocular involvement in EB/AIBD were identified in 88 peer-reviewed journal articles. Findings reported include but are not limited to: cicatrising conjunctivitis, meibomian gland dysfunction, dry eye disease, trichiasis, symblepharon, fornix fibrosis, keratopathy, ectropion/entropion, ankyloblepharon, corneal ulceration, visual impairment and blindness. Although scoring systems exist for assessment of OSD in mucous membrane pemphigoid, no such tools exist for the other AIBD subtypes or for EB. Several systemic scoring systems exist in the dermatological literature that are efficacious in grading overall EB/AIBD severity, but have limited inclusion of ocular features. To the best of our knowledge, there is no recognised or validated scoring systems

  10. The impact of the International Atomic Energy Agency (IAEA) program on radiation and tissue banking in Mexico.

    Science.gov (United States)

    Martínez-Pardo, María Esther; Morales Pedraza, Jorge; Sánchez Ramírez, Omar

    2009-05-01

    Tissue banking started in Mexico in 1948-1949, when two bone banks were established, one at the Infantile Hospital of Mexico and other at the Central Military Hospital. Mexico has benefited for the implementation of the IAEA program since through it has been able to settle down and to consolidate the Tissue Bank at the Instituto Nacional de Investigaciones Nucleares ININ (National Institute for Nuclear Research). This is the only bank in Latin America that has a Quality Management System in force, certified under ISO 9001:2000 since August 1, 2003. The first tissue processed was amnion. The main products of the BTR are amnion and pig skin. Both are biological tissues which their main use is as a wound dressing in patients with burns, scars, diabetic ulcers, epidermolysis bullosa, damaged ocular surface, etc. The General Health Law, published in 1984 and reformed in June 19, 2007, describes the procedure for the disposal of organs, tissues and human cadavers in its fourteenth title and in the Regulation for Sanitary Control. During the period 2001-2005, the ININ Tissue Bank produced 292 sterilised tissues (amnion, 86,668 cm(2), and frozen pig skin, 164,220 cm(2), at an estimated cost of 1,012,668 Mexican pesos. Until 2006, one hundred eighty five (185) patients have been treated with the use of sterilised tissues produced by the ININ Tissue Bank. The radiation source used for sterilisation of tissues is an industrial Cobalt-60 irradiator model JS-6500 AECL, which belongs to ININ. This equipment is located in other building, close to the BTR, in the Centro Nuclear de México "Dr. Nabor Carrillo Flores" (Nuclear Center of Mexico). Until 2006, six hospitals use in a routine way the sterilised tissues produced by the ININ Tissue Bank, for the treatment of burns originated by diverse agents like flame, electricity, liquids in boil, chemical reagents, as well as for the reconstruction of the ocular surface. Two of these hospitals treat patients of very low economic

  11. CD1a, HAM56, CD68 and S-100 are present in lesional skin biopsies from patients affected by autoimmune blistering diseases

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2014-04-01

    Full Text Available Introduction: Previous research on autoimmune skin blistering diseases (ABD has primarily focused on the humoral immune response; moreover, little attention has been given to the potential role of the antigen presenting cells (APCs in lesional skin. Aim: The purpose of our study was to immunophenotype selected APC in the lesional skin of ABDs, utilizing immunohistochemistry (IHC stains. Materials and Methods: We utilized IHC to stain for dendritic cells (DC, staining with CD1a, CD68, HAM56, and S-100 in lesional skin from 30 patients with endemic pemphigus foliaceus (EPF, 15 controls from the EPF endemic area, and 15 healthy controls from the USA. We also tested archival biopsies from patients with selected ABD, including 30 patients with bullous pemphigoid (BP, 20 with pemphigus vulgaris (PV, 8 with pemphigus foliaceus (PF and 14 with dermatitis herpetiformis (DH and 2 with epidermolysis bullosa acquisita (EBA. Results: Cells stained by CD68, HAM56 and S-100 were present in the majority of the ABD skin biopsies; these cells were located primarily in perivascular infiltrates surrounding dermal vessels subjacent to the blisters. However, these cells were also noted within the blisters, in vessels supplying dermal eccrine glands and ducts, and in areas of dermal endothelial-mesenchymal cell junction-like structures, especially in BP cases. In our CD1a staining, the number and location of positive staining cells varied with each disease, being abundant in most ABD in the epidermis suprajacent to the blisters, or in the epidermis surrounding the blister site if the blister site epidermis was missing. In the control biopsies, most did not display positive IHC staining, with the exception of a few CD1a positive cells in the epidermis Conclusion: Our findings confirm positive IHC staining for APCs in areas of the skin besides the disease blisters. Our findings suggest that the antigen presentation in ABD proceeds in areas distant from the blister site

  12. Doenças da pele em caprinos e ovinos no semi-árido brasileiro Diseases of the skin in sheep and goats from the Brazilian semiarid

    Directory of Open Access Journals (Sweden)

    Juliana T.S.A. Macêdo

    2008-12-01

    from 31 goats and 45 sheep were studied histologically. Skin diseases were diagnosed in 35 goats (5.33% of all cases in this species and 45 sheep (13.88% of the cases in this species. The most frequent skin disease was myiasis (10 cases in goats and 7 in sheep, followed by contagious echtyma (8 cases in goats and 2 in sheep, squamous cell carcinoma (4 cases in goats and 5 in sheep, dermatophylosis (8 cases in sheep, and allergic dermatitis (1 case in goats and 1 in sheep. Two cases of pythiosis in sheep, two cases of epidermolysis bullosa in goats, one case of poisoning by Brachiaria brizantha (photosensitization and another by Leucaena leucocephala (alopecia in sheep, and one case of papillomatosis, one of pemphigus foliaceous, one of protothecosis and one of rhabdomyosarcoma in goats were also diagnosed. In 4 cases in sheep and 19 in goats the etiologic diagnosis was not obtained. With the information of the occurrence and epidemiology of the skin diseases is possible to determine efficient control measures.

  13. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune bullous skin diseases (ABDs are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ. These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Ernst H. Beutner, Ph.D. and Robert E. Jordon, M.D. confirmed the autoimmune nature of these diseases. Walter F. Lever, M.D. contributed significantly to our understanding of the histopathologic features of these diseases. Walter Lever, M.D. and Ken Hashimoto, M.D. contributed electron microscopic studies of these diseases, especially in pemphigus vulgaris and bullous pemphigoid. In bullous pemphigoid (BP, linear IgA bullous dermatosis, epidermolysis bullosa acquisita (EBA and dermatitis herpetiformis (DH, loss of adhesion takes place within or underneath the BMZ. Classic EBA demonstrates extensive skin fragility; DH is commonly associated with gluten-sensitive enteropathy, and manifests clinically with pruritic papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The clinical spectrum of bullous pemphigoid includes tense blisters, urticarial plaques, and prurigo-like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy, and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a „cluster of jewels”-like pattern in childhood (chronic bullous disease of childhood and is more clinically heterogeneous in adulthood. Many of the autoantigens in these disorders are known and have been well characterized. ABDs may be influenced by both genetic and exogenous factors. The diagnoses of

  14. Pemphigus

    Science.gov (United States)

    ... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... not appear to be passed from parent to child. But some people’s genes put them more at ...

  15. What Is Alopecia Areata?

    Science.gov (United States)

    ... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... a role. This does not mean that your child will inherit the disease. In fact, this probably ...

  16. Pachyonychia Congenita

    Science.gov (United States)

    ... Bullosa Lichen Sclerosus Pachyonychia Congenita Pemphigus Psoriasis Raynaud’s Phenomenon Rosacea Vitiligo All Diseases and Conditions Kids Pages ... on the soles of the feet when a child begins to walk. In some cases, blisters and ...

  17. Purpura fulminans mimicking toxic epidermal necrolysis - additional value of 16S rRNA sequencing and skin biopsy.

    Science.gov (United States)

    Dautzenberg, K H W; Polderman, F N; van Suylen, R J; Moviat, M A M

    2017-05-01

    Both purpura fulminans and toxic epidermal necrolysis (TEN) are rare and life-threatening disorders with a high mortality. We present a case of suspected rapidly progressive, severe pneumococcal sepsis-induced purpura fulminans complicated by multiple organ failure, severe epidermolysis and cutaneous necrosis. We show the diagnostic challenge to differentiate between purpura fulminans and TEN, as the extensive epidermolysis in purpura fulminans may mimic TEN and we highlight the additional value of repeated skin biopsies and 16S rRNA gene sequencing.

  18. The Role of the Nasal and Paranasal Sinus Pathologies on the ...

    African Journals Online (AJOL)

    2017-10-26

    Oct 26, 2017 ... Development of Chronic Otitis Media and its Subtypes: A Computed. Tomography Study ... factors, anatomical and functional characteristics of. Eustachian .... perpendicular to the mucosal surface at the right and left sides ... image shows a 44-year-old woman who has left concha bullosa, the measurement ...

  19. Abordaje de lesiones por pénfigo ampolloso en prolapso genital

    Directory of Open Access Journals (Sweden)

    Olga Barredo González

    Full Text Available Las enfermedades bullosas o ampollares comprenden un grupo heterogéneo de cuadros cuya lesión elemental común es la ampolla. Los pénfigos y los penfigoides pertenecen al grupo de las enfermedades bullosas de origen autoinmunitario. El prolapso genital es el descenso o desplazamiento de los órganos pélvicos, a través de la vagina y en dirección a la vulva, que se produce como consecuencia del fallo de sus elementos de suspensión y sustentación así como la inervación y musculatura del sistema urinario e intestinal. En este caso presentamos nuestra experiencia en el manejo y tratamiento tópico de lesiones por pénfigo ampolloso en prolapso visceropélvico total que dificultaban la cirugía.

  20. Two cases with unusual mycetoma localizations in upper respiratory system.

    Science.gov (United States)

    Bektaş, Devrim; Ural, Ahmet; Caylan, Rahmet; Bahadır, Osman; Kul, Neslihan; Caylan, Refik

    2011-01-01

    Fungus balls or mycetomas are extramucosal and noninvasive accumulations of degenerating fungal hyphae. In head and neck they may localized most frequently in the paranasal sinuses, especially in the maxillary sinus. These indolent infections are mostly caused by Aspergillus spp. In this article, we present two rare fungus ball cases: one occurring in an automastoidectomy cavity of a temporal bone and the other in a concha bullosa. Typically, both patients admitted with vague symptoms consistent with chronic infection resistant to conventional antibacterial medication.

  1. Use if a soecuak sokubt ub reverse syrak artery flap to reduce venous congestion and flap necrosis

    International Nuclear Information System (INIS)

    Masood, T.; Ahmed, R.; Obaidullah, M.

    2016-01-01

    Background: Distally based sural fascio-cutaneous flap is a commonly performed plastic surgery procedure for the coverage of distal third of leg, ankle and foot defects. However congestion is the main complication of this flap which results into partial or complete loss of the flap. We devised a special splint to reduce this complication and retrospectively reviewed its effect on this complication between two groups. Methods: This retrospective study was carried out at Northwest General hospital between 1995 and 2012. Group-A included 30 patients who were managed without the splint between 1995 and 2005 and group B comprised of 35 patients were treated with the splint between 2006 and 2012. Complications like venous congestion, epidermolysis, and partial and complete flap failure were documented. Data were analyzed by SPSS.16.5 software. Chi- square test was used for data analysis. P value less than 0.05 was considered as the level of significance. Results: Total 65 patients were operated. Age of the patients ranged from 7 to 60 years. Road traffic accident and spoke wheel injury was the main cause of soft tissue loss in our patients. In group A 12 patients suffered from venous congestion. Out of 12, three patients had epidermolysis while partial flap necrosis occurred in 9 patients. Only 3 patients had venous congestion in group B. Two patients suffered from epidermolysis and one had partial flap necrosis. None of patient suffered from complete flap loss in both groups. Conclusion: Reverse sural artery flap continues to be a versatile flap for distal lower extremity reconstruction. By using a special splint to reduce pressure on the pedicle site as a modification, flap complication rate can be decreased significantly. (author)

  2. Selected Abstracts of the 10th International Workshop on Neonatology; Cagliari (Italy; October 22-25, 2014

    Directory of Open Access Journals (Sweden)

    --- Various Authors

    2014-06-01

    case report • C. Loddo, P. Neroni, S. Floris, M.A. Marcialis, R. Carta, C. Fanni, D. Pruna, G. Ottonello; Cagliari (Italy ABS 40. Save breast-milk from pollution • L. Marseglia, S. Manti, G. D’Angelo, C. Mamì, C. Salpietro, I. Barberi; Messina (Italy ABS 41. The role of epigenetic factors on diabetes mellitus development • A.P. Pinna, G. Locci, C. Ripoli, A.M. Nurchi; Cagliari (Italy ABS 42. WT1 expression in the human mesonephros • L. Vinci, E. Obinu, G. Locci, C. Gerosa, D. Fanni, V. Fanos, R. Ambu; Cagliari (Italy ABS 43. Sinusoidal cell apoptosis: a new marker of perinatal sepsis? • E. Obinu, L. Vinci, G. Locci, C. Gerosa, D. Fanni, F. Birocchi, F. Cioglia, R. Ambu; Cagliari (Italy ABS 44. WNT1 expression in the human embryo liver at 7 week of gestation: similarities with hepatocellular carcinoma • E. Obinu, L. Vinci, D. Fanni, R. Ambu; Cagliari (Italy ABS 45. Epidermolysis bullosa • S. Vendemmia, D. Nappa, M. Vendemmia; Aversa and Naples (Italy ABS 46. Platelets alloimmune antibodies: different outcome in twin premature infants • I. Sibona, M. Gaffuri, S. Spaggiari, P. Biban; Verona (Italy ABS 47. An unexpected enemy • R. Carta, C. Fanni, C. Loddo, F. Sau, C. Soddu, A.M. Nurchi; Cagliari (Italy ABS 48. May the HIF-1α polymorphisms be helpful in understanding the neonatal hypoxic-ischemic events? • E. d’Aloja, M. Caddeo, M. Melis, R. Piras, G.P. Maietta, M.F. Rosa; Cagliari (Italy ABS 49. Immune Thrombocytopenia due to rifampicin: descrition of a pediatric case • V. Relli, S. Piras, G. Melis, O. Forresu, U. Pelosi; Iglesias (Italy ABS 50. The effects of neonatal resuscitation training on the Apgar scores of babies born at The National Hospital Abuja (NHA, Nigeria • M. Mukhtar-Yola, L.I. Audu, Y. Olaniyan, H.T. Akinbi, A. Dawodu, E.F. Donovan; Abuja (Nigeria and Cincinnati (OH, USA 

  3. Protocolo de atención odontológica en niños con Epidermólisis Ampollar

    OpenAIRE

    Gabriela Scagnet

    2013-01-01

    La atención odontológica de los niños con Epidermólisis ampollar (EA) o bullosa (EB) son un inmenso desafío para la práctica odontológica ya que se trata de un grupo de trastornos hereditarios que manifiestan aparición de ampollas en piel y mucosas al roce o suave trauma. Presentan múltiples manifestaciones orofaciales que requieren de un protocolo de atención interdisciplinaria específico que comprenda un alto componente preventivo. Se describirán los principales ítems del mismo y las posibi...

  4. Reprodución de tres especies de Clidemia (Melastomataceae en Brasil

    Directory of Open Access Journals (Sweden)

    Gladys Flávia Melo

    1999-09-01

    Full Text Available Se estudió el sistema reproductivo de Clidemia capitellata (Bonpl. D. Don, C. bullosa DC. y C. hirta (L. D. Don. Las tres especies se distribuyen en las márgenes de la selva de Dois Irmos, Recife, Pernambuco, Brasil donde forman pequeñas poblaciones y se pueden calificar como especies simpátricas. El periodo de floración se extiende todo el año. Hay visitas esporádicas de abejas Halictidae (Augochloropsis sp. que recogen polen por vibración ("buzz pollination". Las tres especies son agamospérmicas y muestran un elevado índice de esterilidad masculina, medida por la escasa viabilidad polínica.We compared the reproductive systems in populations of Clidemia capitellata (Bonpl. D. Don, C. bullosa DC. and C. hirta (L. D. Don. (Melastomataceae. The three species occur in small populations in forest margins at Mata de Dois Irmos, Recife, Pernambuco, Brasil and are sympatric. They flower throughout the year, and are occasionaly visited by Halictidae bees, Augochloropsis sp.; the bees collect pollen by vibration ("buzz pollination". The three species are agamospermous and exhibit a high level of male sterility, as measured by their low pollen viability.

  5. The dilatations with the balloon catheter in treatment of the patients with the benign oesophageal stenoses

    International Nuclear Information System (INIS)

    Valek, V.; Benda, K.; Hrobar, P.; Mrazova, J.; Prasek, J.; Bilicky, J.; Vomela, J.; Hep, A.; Muenzova, H.

    1996-01-01

    Between January 1989 and June 1995 the authors dilated in the Department of Radiology in University Hospital Bohunice the benign stenosis of the oesophagus with balloon dilatation catheter in 76 of other patients. The aetiology of the stenosis was long-term reflux oesophagitis in the 39 patients (51%), achalasia 14 patients, 18%) postoperative benign stenosis in anastomosis (7 patients, 9%), corrosive stricture (5 patients, 6,5%), post-radiation stricture (5 patients, 6,5%) and epidermolysis bulosa oesophagi (2 patients, 3%). In four patients (5%) the aetiology of the stenosis was unknown. The standing of the dilatation was from 15 second to 6 minutes and dilatation was technically successful in all cases. First the authors used Owman Oesophageal Dilatation Kit (William COOK), before three years they started to used Rigiflex ORW Dilators Kit (Microvasive). In the patients with achalasia the authors currently used Rigiflex ABD Achalasia Balloon Dilator (Microvasive). (authors). 2 tabs., 3 figs., 14 refs

  6. Short and long term follow up results of (the versatile) reverse sural artery flap

    International Nuclear Information System (INIS)

    Ali, G.; Hameed, S.; Hassan, R.

    2015-01-01

    This study was designed to see the long and short term outcome of the reverse sural artery flap. Study Design: Case series. Patients and Methods: From January 2009 to December 2011, data was collected and analyzed for this study.Eighty nine patients with wounds on the ankle, heel, sole, distal leg, and foot were included in the study. They were followed up at 01 week, 02 weeks, and then 4 weekly for 06 months and at one year time from operation. They were examined for necrosis, congestion, surgical site infection, dehiscence of suture line, epidermolysis, donor site infection and functional outcome. Results: Most of the flaps healed nicely but two (2.25%) failed completely. Six flaps were delayed. However early follow up (within 04 weeks) revealed that there was partial loss of the distal 1-1.5 cm of flap in 04 patients (4.50%). Two patients (2.25%) developed superficial surgical site infection. Six patients (6.74%) developed venous congestion of the flaps which recovered within two weeks. Other minor complications included dehiscence of suture line in 3 patients (3.37%), and superficial Epidermolysis in four (4.50%) (Table-2). Twenty two patients (24.72%) returned to their work in 12-16 weeks, 31 (34.83%) in 16-20 weeks and 36 (40.45%) in 20-24 weeks. Long term follow-up to 06 months revealed hypertrophic scars at the donor site in three patients (4.91%) and recurrence of ulcer in 2 patients (3.27%). Conclusion: The sural fasciocutaneous flap provides reliable supple and durable most single-stage coverage of wounds of the distal third of the leg, heel, and foot with the results comparable to free-tissue transfer. (author)

  7. Erythema multiforme and Stevens-Johnson syndrome in patients receiving cranial irradiation and phenytoin

    International Nuclear Information System (INIS)

    Delattre, J.Y.; Safai, B.; Posner, J.B.

    1988-01-01

    In 15 months we encountered eight patients with intracranial tumors who developed erythema multiforme (EM) or erythema multiforme bullosa (Stevens-Johnson syndrome). All occurred shortly after use of phenytoin (DPH) and brain radiation therapy (WBRT). The clinical picture differed from the classic form of EM in that the erythema began on the scalp and spread to the extremities, progressing in three cases to extensive bullous formation. There were no cases of EM among patients who received either DPH or radiotherapy alone. The combination of DPH, WBRT, and tapering of steroids seems to predispose to EM. The pathogenesis of the disorder is probably immunologic. In the absence of seizures, anticonvulsants should not be given routinely to patients with brain tumors. When anticonvulsants are necessary in patients scheduled for WBRT, DPH may not be the drug of choice

  8. Generalized and Naevoid Epidermolytic Ichthyosis in Denmark

    DEFF Research Database (Denmark)

    Bygum, Anette; Virtanen, Marie; Brandrup, Flemming

    2012-01-01

    A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire...... and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6...... families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence...

  9. Protocolo de atención odontológica en niños con Epidermólisis Ampollar

    Directory of Open Access Journals (Sweden)

    Gabriela Scagnet

    2013-01-01

    Full Text Available La atención odontológica de los niños con Epidermólisis ampollar (EA o bullosa (EB son un inmenso desafío para la práctica odontológica ya que se trata de un grupo de trastornos hereditarios que manifiestan aparición de ampollas en piel y mucosas al roce o suave trauma. Presentan múltiples manifestaciones orofaciales que requieren de un protocolo de atención interdisciplinaria específico que comprenda un alto componente preventivo. Se describirán los principales ítems del mismo y las posibilidades de rehabilitación bucal integral personalizada.

  10. Sinonasal anatomical variations: their relationship with chronic rhinosinusitis and effect on the severity of disease-a computerized tomography assisted anatomical and clinical study.

    Science.gov (United States)

    Kaygusuz, Ahmet; Haksever, Mehmet; Akduman, Davut; Aslan, Sündüs; Sayar, Zeynep

    2014-09-01

    The anatomy of the sinonasal area has a very wide rage of anatomical variations. The significance of these anatomical variations in pathogenesis of rhinosinusitis, which is the commonest disease in the region, is still unclear. The aims of the study were to compare the rate of sinonasal anatomical variations with development and severity of chronic rhinosinusitis patients. CT scan of paranasal sinuses images of 99 individuals were retrospectively reviewed. 65 cases of chronic rhinosinusitis (study group) who had undergone endoscopic sinus surgery were compared with 34 cases without chronic rhinosinusitis (control group). Also in study group Lund-Mackay score of the sinus disease were calculated and compared to the rate of related anatomical variations. There were 74 (74.7 %) males and 25 (25.2 %) females with ages ranging from 13 to 70 years (mean 32.2 years). The anatomical variations recorded were: Septal deviation 47 (72.3) in study and 25 (73.5 %) in control group, concha bullosa 27 (41.5 %) in study and 18 (52.9 %) in control group, overpneumatized ethmoid bulla 17 (26.1 %) in study and 14 (41.1 %) in control group, pneumatized uncinate 3 (4.6 %) in study and 3 (8.8 %) in control group, agger nasi 42 (64.6 %) in study and 19 (55.8 %) in control group, paradoxical middle turbinates 9 (13.8 %) in study and 4 (11.7 %) in control group, Onodi cell 6 (9.2 %) in study and 2 (5.8 %) in control group, Haller's cells (infraorbital ethmoid cell) 9 (13.8 %) in study and 7 (20.5 %) in control group. None of these results were statistically significant between study and control group (p > 0.05). Lund-Mackay score (which was assumed to show the severity of the disease) of the maxillary, ethmoid and frontal sinus were calculated and compared to rate of septal deviation, concha bullosa, agger nasi cells. No significant correlation was conducted (p > 0.05). The results of study showed no statistically significant correlation between sinonasal anatomical

  11. Metal stents insertion in the treatment of the patients with benign oesophageal strictures

    International Nuclear Information System (INIS)

    Valek, V.; Benda, K.; Hrobar, P.; Mrazova, J.; Prasek, J.; Vomela, J.; Muenzova, H.; Hep, A.; Stefl, M.

    1996-01-01

    Between October 1993 and June 1995 the authors inserted in the Department of Radiology in University Hospital Bohunice in 16 of their patients with benign stenosis of the oesophagus an expandable metals stent. the aetiology of the stenosis was long-term reflux oesophagitis (6x), postoperative benign stenosis in anastomosis (3x), corrosive structure (2x), epidermolysis bulosa oesophagi (2x) and post-radiation structure (1x). In two patients the aetiology of the stenosis was unknown. All the patients suffered at the the of the stent insertion from marked dysphagia (stage 3 and/or 4). The indication for oesophageal stent implantation was always carefully considered by an interdisciplinary indication committee. Before the stent insertion all the stenoses have been repeatedly unsuccessfully dilated with balloon dilatation catheter. In total, 25 stents were used. In seven patients were inserted more as one stent. The intervention itself was preceded by a double contrast X-ray examination of oesophagus, oesophagoscopy with biopsy to verify the stricture aetiology, computed tomography and endosonography. No complications associated with the intervention have been encountered and stent insertions have always been well tolerated. (authors). 1 tab., 3 figs., 9 refs

  12. Prediction of post-operative necrosis after mastectomy: A pilot study utilizing optical diffusion imaging spectroscopy

    Directory of Open Access Journals (Sweden)

    Xie Xian-Jin

    2009-11-01

    Full Text Available Abstract Introduction Flap necrosis and epidermolysis occurs in 18-30% of all mastectomies. Complications may be prevented by intra-operative detection of ischemia. Currently, no technique enables quantitative valuation of mastectomy skin perfusion. Optical Diffusion Imaging Spectroscopy (ViOptix T.Ox Tissue Oximeter measures the ratio of oxyhemoglobin to deoxyhemoglobin over a 1 × 1 cm area to obtain a non-invasive measurement of perfusion (StO2. Methods This study evaluates the ability of ViOptix T.Ox Tissue Oximeter to predict mastectomy flap necrosis. StO2 measurements were taken at five points before and at completion of dissection in 10 patients. Data collected included: demographics, tumor size, flap length/thickness, co-morbidities, procedure length, and wound complications. Results One patient experienced mastectomy skin flap necrosis. Five patients underwent immediate reconstruction, including the patient with necrosis. Statistically significant factors contributing to necrosis included reduction in medial flap StO2 (p = 0.0189, reduction in inferior flap StO2 (p = 0.003, and flap length (p = 0.009. Conclusion StO2 reductions may be utilized to identify impaired perfusion in mastectomy skin flaps.

  13. Combined approach for gynecomastia

    Directory of Open Access Journals (Sweden)

    El-Sabbagh, Ahmed Hassan

    2016-02-01

    Full Text Available Background: Gynecomastia is a deformity of male chest. Treatment of gynecomastia varied from direct surgical excision to other techniques (mainly liposuction to a combination of both. Skin excision is done according to the grade. In this study, experience of using liposuction adjuvant to surgical excision was described. Patients and methods: Between September 2012 and April 2015, a total of 14 patients were treated with liposuction and surgical excision through a periareolar incision. Preoperative evaluation was done in all cases to exclude any underlying cause of gynecomastia. Results: All fourteen patients were treated bilaterally (28 breast tissues. Their ages ranged between 13 and 33 years. Two patients were classified as grade I, and four as grade IIa, IIb or III, respectively. The first showed seroma. Partial superficial epidermolysis of areola occurred in 2 cases. Superficial infection of incision occurred in one case and was treated conservatively. Conclusion: All grades of gynecomastia were managed by the same approach. Skin excision was added to a patient that had severe skin excess with limited activity and bad skin complexion. No cases required another setting or asked for 2 opinion.

  14. Combined approach for gynecomastia.

    Science.gov (United States)

    El-Sabbagh, Ahmed Hassan

    2016-01-01

    Gynecomastia is a deformity of male chest. Treatment of gynecomastia varied from direct surgical excision to other techniques (mainly liposuction) to a combination of both. Skin excision is done according to the grade. In this study, experience of using liposuction adjuvant to surgical excision was described. Between September 2012 and April 2015, a total of 14 patients were treated with liposuction and surgical excision through a periareolar incision. Preoperative evaluation was done in all cases to exclude any underlying cause of gynecomastia. All fourteen patients were treated bilaterally (28 breast tissues). Their ages ranged between 13 and 33 years. Two patients were classified as grade I, and four as grade IIa, IIb or III, respectively. The first 3 patients showed seroma. Partial superficial epidermolysis of areola occurred in 2 cases. Superficial infection of incision occurred in one case and was treated conservatively. All grades of gynecomastia were managed by the same approach. Skin excision was added to a patient that had severe skin excess with limited activity and bad skin complexion. No cases required another setting or asked for 2(nd) opinion.

  15. Triangular lipodermal flaps in Wise pattern reduction mammoplasty (superomedial pedicle): A novel technique to reduce T-junction necrosis.

    Science.gov (United States)

    Khalil, Haitham H; Malahias, Marco; Shetty, Geeta

    2016-01-01

    Although Wise pattern reduction mammoplasty is one of the most prevalent procedures providing satisfactory cutaneous reduction, it is at the expense of inevitable lengthier scars and wound complications, especially at the inverted T junction. To describe a novel technique providing tension-free closure at the T junction through performing triangular lipodermal flaps. The aim is to alleviate skin tension, thus reducing skin necrosis, dehiscence and excessive scarring at the T junction. One hundred seventy-three consecutive procedures were performed on 137 patients between 2009 and 2013. Data collected included demographics, perioperative morbidity and resected breast tissue weight. The follow-up period ranged from three to 30 months; early and late postoperative complications and patient satisfaction were recorded. Superficial epidermolysis without T-junction dehiscence was experienced in eight (4.6%) procedures while five (2.9%) procedures developed full-thickness wound dehiscence. Ninety-four percent of patients were highly satisfied with the outcome. The technique is safe, versatile and easy to execute, providing a tension-free zone and acting as internal dermal sling, thus providing better wound healing with more favourable aesthetic outcome and maintaining breast projection.

  16. Computerized Tomographic Study on the Anatomic Variation of the Paranasal Sinus

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    Choi, Sun Kyung; Lim, Sug Young; Koh, Kwang Joon [Dept. of Oral and Maxillofacial Radiology and Institute of Oral Bio Science, College of Dentistry, Chonbuk National University, Chonju (Korea, Republic of); Park, Mi Ju [Dept. of Prosthodontics, School of Denstistry, Chonbuk National Universty, Chonju (Korea, Republic of)

    1999-08-15

    To evaluate the anatomic variations of the paranasal sinuses on computed tomographs. The author examined the CT images of the paranasal sinuses retrospectively in 500 patients who visited Chonbuk National University Hospital between January 1996 and December 1997. The highest incidence of anatomic variation of the paranasal sinuses in bilateral structures was agger nasi cell (73.2%), followed by concha bullosa (31.1%), Onodi cell (24.0%), Haller cell (19.8%), maxillary sinus septum (13.0%), paradoxical middle turbinate (2.5%), pneumatized uncinate process (2.0%), and bent uncinate process. The highest incidence of anatomic variation in midline structures was nasal septum deviation(53.2%), followed by nasal septumaerated (29.4%), bulla galli (24.7%) asymmetric intersphenoid septum (22.3%), and nasal septum spur (13.8%). The correlation between anatomic variation and paranasal sinusitis was not found. The results of this study will aid in the diagnosis and treatment of paranasal sinus diseases, especially in the treatment planning before functional endoscopic surgery.

  17. Computerized Tomographic Study on the Anatomic Variation of the Paranasal Sinus

    International Nuclear Information System (INIS)

    Choi, Sun Kyung; Lim, Sug Young; Koh, Kwang Joon; Park, Mi Ju

    1999-01-01

    To evaluate the anatomic variations of the paranasal sinuses on computed tomographs. The author examined the CT images of the paranasal sinuses retrospectively in 500 patients who visited Chonbuk National University Hospital between January 1996 and December 1997. The highest incidence of anatomic variation of the paranasal sinuses in bilateral structures was agger nasi cell (73.2%), followed by concha bullosa (31.1%), Onodi cell (24.0%), Haller cell (19.8%), maxillary sinus septum (13.0%), paradoxical middle turbinate (2.5%), pneumatized uncinate process (2.0%), and bent uncinate process. The highest incidence of anatomic variation in midline structures was nasal septum deviation(53.2%), followed by nasal septumaerated (29.4%), bulla galli (24.7%) asymmetric intersphenoid septum (22.3%), and nasal septum spur (13.8%). The correlation between anatomic variation and paranasal sinusitis was not found. The results of this study will aid in the diagnosis and treatment of paranasal sinus diseases, especially in the treatment planning before functional endoscopic surgery.

  18. Cystic Shape Cemento-Ossifying Fibroma of Ethmoid Sinus.

    Science.gov (United States)

    Shejbal, Dražen; Vonsović, Gabrijela; Baudoin, Tomislav; Vagic, Davor

    2015-06-01

    Cemento-ossifying fibromas are a group of rarely occurring benign tumours, developing from the periodontal membrane and varying considerably in appearance and in the progress of the disease. Their common feature is higher or lower production of cemental tissue. In most cases the tumours are small because their cementoma mature quickly and become inactive, which causes the tumour to stop growing. They develop most frequently in the mandible and also in the maxilla. Other sites, such as paranasal cavities, soft tissues and bones of the head, are extremely rare. The case of a cemento-fibrosing tumour with psammoma infiltrations, developing from the ethmoid sinus in a nine-year-old girl is reported. Due to frontal headaches and sight defects as well as impaired vision on the right side, NMR was done, which showed a mucocele of the front and rear ethmoid with destruction of the orbital wall and a breakthrough into the orbit. The right maxillary sinus showed a visible retention and a thickened mucous membrane. A rhinoscopy revealed a ball-shaped spherical mass in the medial nasal meatus, which was defined as concha bullosa. An endoscopic examination showed that the tumour protruded in front of the medium nasal concha into the right nasal cavity, softened the ethmoid roof, penetrated toward the base of the skull, adhered and pushed the orbit. It was removed by FESS technique, and PHD revealed subsequently that it was not a mucocele but a cemento-ossifying fibroma.

  19. Extended Islanded Reverse Sural Artery flap for Staged Reconstruction of Foot Defects Proximal to Toes.

    Science.gov (United States)

    Yousaf, Muhammad Amin; Abidin, Zain Ul; Khalid, Kamran; Haq, Ata Ul; Khalid, Farrukh Aslam; Tarar, Faraz Ahmad; Asif, Muhammad Umar; Tarar, Moazzam Nazeer

    2018-02-01

    Obective:To assess the outcome of extended delayed reverse sural artery flap for reconstruction of foot defects proximal to toes in terms of flap survival, complication and extended area. Case series. Jinnah Burn and Reconstructive Surgery Centre, Lahore, from February 2015 to April 2017. Cases who underwent delayed sural artery flap were inducted. Preoperative hand-held doppler was done to confirm the location of perforator. Two suitable perforators were chosen to raise the extended flap by crossing the proximal limit in all cases. The pedicle was kept minimum 3 cm wide and perfusion was assessed. Flap was delayed for one week and vaccum-assisted closure (VAC) dressing was applied over wound. The second surgery was performed after one week. Proximal perforator was clamped and ligated after checking adequate perfusion of flap. Flap was insetted into defect. Thirty-two patients were reconstructed with delayed reverse sural artery flap. The mean age of the patients was 26.5 12.2 years. Twenty-four (75%) patients were males and 8 (25%) were females. Twenty-two (68.7%) cases were degloving wounds after road traffic accidents (RTA), 6 (18.7%) were diabetic foot wounds, 4 (12.5%) sustained injury after falling from height and 7 (21.8%) patients had fracture of metatarsals. Twenty-eight flaps were transferred after one week delay, and only in 4 cases, flap were transferred after two weeks. All flaps survived completely. Complications of infection noted in 3 (9.3%) flaps, 3 (9.3%) flaps showed tip necrosis, 2 (6.2%) flaps undergone epidermolysis and only 2 (6.2%) showed venous congestion. Delayed islanded reverse sural artery perforator flap is a reliable and versatile option for resurfacing soft tissue defects of lower limb proximal to the toes with lesser complications and extended coverage area.

  20. Distal Based Sural Fascio-Cutaneous Flap: A Practical Limb Saviour for Wounds of War and Peace

    International Nuclear Information System (INIS)

    Tahirkheli, M. U. I.; Ellahi, I.; Dar, M. F.; Sharif, A.

    2016-01-01

    Objective: To determine the effect of mechanism of injury on wound healing, and on the viability and success of distally based sural flap when used for the coverage of defects of lower leg, ankle and foot. Study Design: Descriptive study. Place and Duration of Study: Department of Surgery, Combined Military Hospital, Peshawar and Khariyan, from January 2012 to December 2014. Methodology: Patients with soft tissue defects over the distal leg, ankle and foot were selected by purposive sampling technique and divided into 2 groups of 19 patients each. Group A(road traffic accidents) and group B (war injuries). Sural fascio-cutaneous flap was the reconstructive tool used in all the cases using single technique by the same surgical team; and time for recipient site preparation, size of the defect, graft survival, its healing time and complications, were studied. Result: The mean age of the 38 patients in the study was 28.2 ±13.4 years. There were 36 male and 2 female patients. The most common site of injury encountered was leg (n=20) followed by foot (n=11) and ankle (n=5). Maximum wound size seen in group A was 10 x 12 cm and in group B was 15 x 38 cm. Recovery was uneventful in 17/19 cases of group Awhile 7/19 in group B and with no graft failure. Superficial epidermolysis was seen in 2 and 8 cases in group A and B respectively while edge necrosis of the flap was observed in group B only (n=4). Healing time on average was 2 to 3 weeks in group A, and 4 to 5 weeks in group B. Conclusion: Soft tissue defects of the distal lower extremity as a result of war injuries and road traffic accidents have different dynamics in terms of wound size, time of wound healing, wound complications and functional outcome; but distal based sural flap has promising Result in both situations. (author)

  1. Extended Islanded Reverse Sural Artery Flap for Staged Reconstruction of Foot Defects Proximal to Toes

    International Nuclear Information System (INIS)

    Yousaf, M.A.; Abidin, Z.U.; Khalid, K.; Haq, A.U.; Tarar, F.A.; Asif, M.U.; Tarar, M.N.

    2018-01-01

    To assess the outcome of extended delayed reverse sural artery flap for reconstruction of foot defects proximal to toes in terms of flap survival, complication and extended area. Study Design:Case series. Place and Duration of Study:Jinnah Burn and Reconstructive Surgery Centre, Lahore, from February 2015 to April 2017. Methodology:Cases who underwent delayed sural artery flap were inducted. Preoperative hand-held doppler was done to confirm the location of perforator. Two suitable perforators were chosen to raise the extended flap by crossing the proximal limit in all cases. The pedicle was kept minimum 3 cm wide and perfusion was assessed. Flap was delayed for one week and vaccum-assisted closure (VAC) dressing was applied over wound. The second surgery was performed after one week. Proximal perforator was clamped and ligated after checking adequate perfusion of flap. Flap was insetted into defect. Results:Thirty-two patients were reconstructed with delayed reverse sural artery flap. The mean age of the patients was 26.5 +12.2 years. Twenty-four (75%) patients were males and 8 (25%) were females. Twenty-two (68.7%) cases were degloving wounds after road traffic accidents (RTA), 6 (18.7%) were diabetic foot wounds, 4 (12.5%) sustained injury after falling from height and 7 (21.8%) patients had fracture of metatarsals. Twenty-eight flaps were transferred after one week delay, and only in 4 cases, flap were transferred after two weeks. All flaps survived completely. Complications of infection noted in 3 (9.3%) flaps, 3 (9.3%) flaps showed tip necrosis, 2 (6.2%) flaps undergone epidermolysis and only 2 (6.2%) showed venous congestion. Conclusion:Delayed islanded reverse sural artery perforator flap is a reliable and versatile option for resurfacing soft tissue defects of lower limb proximal to the toes with lesser complications and extended coverage area. (author)

  2. Microscopia confocal en operados de queratoplastia perforante Confocal microscopy in patients operated from penetrating keratoplasty

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    Zulema Gómez Castillo

    2009-06-01

    Full Text Available La microscopia confocal es un examen exploratorio, práctico y poco invasivo que permite conocer las características microscópicas del tejido corneal después del trasplante, por lo que constituye una herramienta muy útil en el manejo de los pacientes operados de queratoplastia. El presente trabajo tiene como finalidad describir las características del tejido corneal en pacientes operados de este tipo de trasplante, mediante la microscopia confocal in vivo. MÉTODOS: Se realizó un estudio descriptivo, de corte transversal, en 40 ojos de 40 pacientes operados de queratoplastia perforante, en el Servicio de Córnea del Instituto Cubano de Oftalmología "Ramón Pando Ferrer", de marzo de 2006 a marzo de 2007. Se confeccionó una historia clínica oftalmológica y se les realizó a todos el examen de microscopia confocal en el injerto corneal con el microscopio confocal CONFOSCAN 4. RESULTADOS: La queratopatía bullosa pseudofáquica fue la afección más frecuente previa a la cirugía y estuvo presente en el 77,5 % de los pacientes. En el 72,5 % de los intervenidos se encontró una disminución del grosor corneal. El epitelio presentó alteraciones en el 62,5 % de los pacientes. Todos presentaron afectación de la forma y el tamaño celular endotelial. En el 82,5 % de los pacientes se observó ausencia de plexos nerviosos. CONCLUSIONES: La microscopia confocal como nueva ciencia en el campo de la oftalmología, favorece el seguimiento evolutivo de las queratoplastias perforantes y con esto no solo a prevenir la aparición de posibles complicaciones, sino además de garantizar el éxito de la cirugía y la función refractiva de la córnea.Confocal microscopy is a practical, exploratory and less invassive examination that allows finding out the microscopic characteristics of the corneal tissue after transplantation, so it is a very useful tool for the management of patients operated from keratoplasty. The present paper was aimed at describing

  3. A retrospective analysis of 538 sinonasal fungus ball cases treated at a single tertiary medical center in Korea (1996-2015).

    Science.gov (United States)

    Yoon, Young Hoon; Xu, Jun; Park, Soo Kyoung; Heo, Jae Hyung; Kim, Yong Min; Rha, Ki-Sang

    2017-11-01

    Sinonasal fungus ball (FB) is a type of noninvasive fungal rhinosinusitis affecting immunocompetent hosts. FB, previously considered rare, has been reported with increasing frequency. We reviewed our experience of 538 cases over the past 20 years. We retrospectively examined clinical records including clinical presentations, radiological findings, management, and outcomes of FB patients who have undergone surgery for treatment. The number of FB patients who underwent endoscopic sinus surgery (ESS) was calculated annually. Causal relationships between structural variations and FB were also investigated. The number of FB patients who underwent sinus surgery has increased. The mean age was 58.3 years, and the gender ratio was approximately 2 (female): 1 (male). While the most common presenting symptoms of maxillary sinus FB patients were nasal symptoms, such as postnasal drip and nasal obstruction, sphenoid sinus FB patients presented with headache mostly. On computed tomography (CT) scans, the most common finding was intralesional hyperdensity (77.3%). There was no significant correlation between the presence of FB and structural variations (nasal septal deviation, concha bullosa, Haller cell). Median follow-up period of the patients was 11 months. Recurrence or residual disease occurred in only 6 (1.1%) cases. The number of FB patients who underwent surgery has increased steadily over the past 20 years. FB should be considered in patients with unilateral nasal symptoms and unexplained headaches. A preoperative CT scan is an essential tool in making diagnosis easier and faster. Endoscopic surgery is the treatment of choice, with a low morbidity and recurrence rate. © 2017 ARS-AAOA, LLC.

  4. External Dacryocystorhinostomy; Success Rate and Causes of Failure in Endoscopic and Pathologic Evaluations.

    Science.gov (United States)

    Ghasemi, Hassan; Asghari Asl, Sajedeh; Yarmohammadi, Mohammad Ebrahim; Jafari, Farhad; Izadi, Pupak

    2017-01-01

    External dacryocystorhinostomy (DCR) is the method of choice to treat nasolacrimal duct (NLD) obstruction and the other approaches are compared with it, with a failure rate of 4% to 13%. The current study aimed to assess the causes of failure in external DCR by postoperative endoscopic and pathological evaluation. The current retrospective cross sectional study followed-up113 patients with external DCR and silicone intubation for three months. Silicone tubes were removed after the third months. Failure was confirmed based on the clinical findings and irrigation test. Paranasal sinus computed tomography (CT) scanning, and endoscopic and pathological evaluations were performed in the failed cases. Totally, 113 patients underwent external DCR. The patients included 71 females and 42 males. The mean age of the patients was 55.91 years; ranged from 18 to 86. Epiphora was the most common complaint before surgery (90.3%). Clinically, epiphora continued in 17 cases (15%), of which 94.11% had at least one sinus CT abnormality and 82.35% had at least one endoscopic abnormality. The most common endoscopic findings were deviated septum (70.6%), scar tissue (52.94%), concha bullosa (46.9%), septal adhesion (47.05%), enlarged middle turbinate (41.2%), and sump syndrome (11.7%). The failure was significantly associated with the chronicity of the initial symptoms (P-value=0.00). Pathologically, there were significant relationship amongst the failure rate, scar formation, and allergic rhinitis (P-values =0.00 and <0.05, respectively). Preoperative endonasal evaluation and consultation with an otolaryngologist can improve surgical outcomes and help to have a better conscious to intranasal abnormalities before external DCR surgery.

  5. Migraine: A look down the nose.

    Science.gov (United States)

    Muehlberger, Thomas; Wormald, Justin C R; Hachach-Haram, Nadine; Mosahebi, Afshin

    2017-07-01

    Studies have suggested that contact between opposing mucosal surfaces in the nasal wall and cavity can be a target of the surgical treatment of migraines. Unfortunately, not enough is known about the role of nasal pathology in the pathogenesis of this condition. The co-existence of further rhinological disorders can be an impediment to defining the cause and effect of anatomical variants. The authors compared the MRI scans of migraine- and non-migraine patients (MPs and NMPs, respectively) to determine the prevalence of such mucosal contact points in order to extrapolate whether there is a significant association with migraines. Coronal and axial MRI brain scans of 522 patients (412 migraineurs and 110 non-migraineurs) were analysed for the prevalence of anatomical variations of the nasal cavity, e.g. concha bullosa, septal deviations, mucosal swelling and contact points. The results showed no significant difference between MPs and NMPs patients for any of the parameters examined. Moreover, 87% MPs and 79% NMPs had at least one contact point. The most frequent contact point was between the middle turbinate and the septum, observed in 54% of MPs and 45% of NMPs. Contact points with the nasal mucosa are highly prevalent in both MPs and NMPs. Although a contact point does not cause a migraine in the absence of the disease, the concomitant presence of migraine and contact points can trigger an attack, and therefore, it is necessary to differentiate or exclude a rhinological disorder in these patients. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  6. Twardzina ograniczona pęcherzowa – opis przypadku

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    Elżbieta Meszyńska

    2011-01-01

    Full Text Available Wprowadzenie: Pęcherze pojawiające się w obrębie zmian typu twardzinyograniczonej są rzadko opisywane. Etiologia ich powstawaniajest wieloczynnikowa. Najczęściej rozważany jest ucisk blaszek twardzinowychna naczynia limfatyczne. Twardzina pęcherzowa wymagaróżnicowania z liszajem twardzinowym i zanikowym, w którym u częścichorych obserwuje się występowanie pęcherzy. Cel pracy: Przedstawienie przypadku 41-letniej kobiety z twardzinąograniczoną (morphea, u której w 15. roku trwania choroby wystąpiłypęcherze w obrębie ognisk twardzinowych. Opis przypadku: U 41-letniej kobiety z trwającymi od 15 lat ogniskamimorphea wystąpiły nadżerki oraz pęcherze krwotoczne w obrębieognisk stwardniałych. Badanie histopatologiczne wykazało obrzękskóry właściwej oraz obecność pęcherzy podnaskórkowych. Badaniaimmunologiczne (metoda immunofluorescencji pośredniej i bezpośredniejbyły negatywne. Obraz kliniczny i histopatologiczny pozwoliłna rozpoznanie odmiany pęcherzowej twardziny ograniczonej (morpheabullosa. Zmiany pęcherzowe ustąpiły po 40 dniach leczeniacefalosporynami (cefuroksym. Wnioski: Morphea bullosa jest rzadką odmianą twardziny skórnej, którawymaga różnicowania z liszajem twardzinowym i zanikowym orazautoimmunologicznymi, podnaskórkowymi chorobami pęcherzowymi.Wykwity pęcherzowe w obrębie ognisk morphea mogą wystąpićnawet po wielu latach utrzymywania się typowych blaszek stwardnieniowych.

  7. Colgajo sural reverso en pacientes pediátricos: experiencia de 6 años Reverse sural flap in pediatric patients: 6 years experience

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    S. De la Cruz Reyes

    2012-12-01

    analysis of 10 cases of pediatric patients in which we used the reverse sural flap. We follow a retrospective, descriptive and observational study that includes all patients under 16 years who received a reverse sural flap reconstruction within the period between March 2004 and April 2010 at the Centenario Hospital Miguel Hidalgo in Aguascalientes, México. The study included 10 cases with mean age 10 years (range 3 to 15 years, 6 males and 4 females. The mechanism of trauma in 6 cases were motorcycle injury, car crash in 2 patients, 1 case of bicycle injury, and 1injury by fire arm. The affected areas were foot dorsal area in 5 cases, calcanea in 4 cases and 1 external ankle injury. The average diameter of the affected areas was 8.8 cm. Three patients had minor postoperative ccomplications, 2 distal epidermolysis and 1 partial dehiscence of the flap. There were no serious complications or flap loss. Favorable results were obtained in 100 % of patients at the end of the follow up. In our opinion, the technique of lower leg reconstruction, specifically for foot lesions, with sural neurocutaneous flap of reverse flow is an effective treatment option for pediatric patients.

  8. Treatment of unilateral giant fibroadenoma by breast reduction skin incision: the inverted "T" technique.

    Science.gov (United States)

    Achebe, J U; Njeze, G E; Okwesili, O R

    2014-01-01

    breasts were involved at presentation. The inferior glandular pedicle bearing the NAC was used in all patients. The length of the pedicle ranged from 8 cm to 14 cm whilst the width ranged from 6 cm to 8 cm. Lactation was reported by three patients who went on to successfully breast feed. Complications were minimal. Most were minor wound healing problems and minor breast asymmetry. Epidermolysis in 2, hypertrophic scar in 6,minor breast asymmetry in 3 and delayed healing at the "T" junction in the inframammary fold in 4 were the common complications. All patients were satisfied with the result obtained. In GFA with a significant breast asymmetry, excision through inverted "T" technique was successful in achieving postoperative symmetry with the opposite breast in these patients. Complications were minimal.

  9. [Morphology of basement membrane and associated matrix proteins in normal and pathological tissues].

    Science.gov (United States)

    Nerlich, A

    1995-01-01

    Basement membranes (BM) are specialized structures of the extracellular matrix. Their composition is of particular importance for the maintenance of normal morphological and functional properties of a multitude of organs and tissue systems and it is thus required for regular homeostasis of body function. Generally, they possess three main functions, i.e. participation in the maintenance of tissue structure, control of fluid and substrate exchange, and regulation of cell growth and differentiation. BMs are made up by various components which are in part specifically localized within the BM zone, or which represent ubiquitous matrix constituents with specific quantitative and/or qualitative differences in their localization. On the basis of a thorough immunohistochemical analysis of normal and diseased tissues, we provide here a concept of "functional morphology/pathomorphology" of the different BM components analyzed: 1.) The ubiquitous BM-constituent collagen IV primarily stabilizes the BM-zone and thus represents the "backbone" of the BM providing mechanical strength. Its loss leads to cystic tissue transformation as it is evidenced from the analysis of polycystic nephropathies. Thus, in other cystic tissue transformations a similar formal pathogenesis may be present. 2.) The specific localization of collagen VII as the main structural component of anchoring fibrils underlines the mechanical anchoring function of this collagenous protein. Defects in this protein lead to hereditary epidermolysis. The rapid re-occurrence of epidermal collagen VII during normal human wound healing indicates a quick reconstitution of the mechanical tensile strength of healing wounds. 3.) The BM-specific heparan sulfate proteoglycan (HSPG, Perlecan) with its highly negative anionic charge can be assumed to exert filter control. This assumption is corroborated by the localizatory findings of a preferential deposition of HSPG in endothelial and particularly in glomerular BM. Similarly

  10. Standard guidelines of care for chemical peels

    Directory of Open Access Journals (Sweden)

    Khunger Niti

    2008-03-01

    Indian skin. It is essential to do prepeel priming of the patient′s skin with sunscreens, hydroquinone and tretinoin for 2-4 weeks. Endpoints in peels: For glycolic acid peels: The peel is neutralized after a predetermined duration of time (usually three minutes. However, if erythema or epidermolysis occurs, seen as grayish white appearance of the epidermis or as small blisters, the peel must be immediately neutralized with 10-15% sodium bicarbonate solution, regardless of the duration of application of the peel. The end-point is frosting for TCA peels, which are neutralized either with a neutralizing agent or cold water, starting from the eyelids and then the entire face. For salicylic acid peels, the end point is the pseudofrost formed when the salicylic acid crystallizes. Generally, 1-3 coats are applied to get an even frost; it is then washed with water after 3-5 minutes, after the burning has subsided. Jessner′s solution is applied in 1-3 coats until even frosting is achieved or erythema is seen. Postoperative care includes sunscreens and moisturizers Peels may be repeated weekly, fortnightly or monthly, depending on the type and depth of the peel.

  11. Morbilidad y mortalidad en la cirugía de las bullas enfisematosas Morbidity and mortality in the surgery of emphysematous bullae

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    Kai Cheng Hung

    2008-03-01

    Full Text Available INTRODUCCIÓN. La sed de aire es el más insoportable de todos los apetitos humanos y probablemente ninguna angustia se compare con la ocasionada por la imposibilidad de respirar adecuadamente. El objetivo de este trabajo fue estudiar la enfermedad bullosa pulmonar tratada con cirugía según el algoritmo de trabajo confeccionado en el Hospital «Comandante Manuel Fajardo». MÉTODOS. Se estudiaron prospectivamente 36 pacientes operados en el período entre enero de 1995 y enero de 2004. Para determinar clínicamente el estado de los pacientes en el preoperatorio y posoperatorio, se utilizó el índice de disnea recomendado por la Sociedad Americana del Tórax. Se valoró el riesgo quirúrgico según la clasificación de la Sociedad Estadounidense de Anestesia y el índice de Goldman para riesgo cardíaco en cirugía no cardíaca. RESULTADOS. Las principales indicaciones del tratamiento quirúrgico en los enfermos con bullas enfisematosas fueron las bullas gigantes y el neumotórax bulloso (92 %. La morbilidad de las intervenciones quirúrgicas fue muy alta (61,1 %, la mayoría de poca importancia. La fuga aérea fue la más frecuente de las complicaciones (22,2 %, seguida del seroma de la herida quirúrgica (11,1 %. La mortalidad fue baja (2,8 %, con un solo fallecido a causa de insuficiencia respiratoria aguda. CONCLUSIONES. La bullectomía por resección atípica es la técnica quirúrgica preferida con el objetivo de preservar la mayor cantidad de tejido pulmonar funcional. El índice de disnea mostró una mejoría notable entre las evaluaciones pre y posoperatorias de la función pulmonar. Consideramos que este indicador es superior al volumen espiratorio forzado en el primer segundo (FEV1 para la valoración de la efectividad de la cirugía y, además, un excelente marcador de la mejoría de la calidad de vida de los pacientesINTRODUCTION. The thirsty for air is the most unbearable of all the human appetites and probably no anguish can be