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

[Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015].

Science.gov (United States)

Torres-Iberico, Rosario; Palomo-Luck, Patricia; Torres-Ramos, Gilmer; Lipa-Chancolla, Roxana

2017-01-01

To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. 93 patients were registered. The average age was 7.9 ± 5.6 years; 53.8% (n = 50) were boys. Clinical forms corresponded to dystrophic EB with 41 (44.1%) cases, simple EB with 39 (41.9%), union EB cases with 8 (8.6%) and Kindler syndrome with 4 (4.3%) cases. The clinical form could not be identified in a case. A total of 48 cases (51.6%) came from Lima and Callao, and 45 cases (48.4%) from other provinces of the country. Extracutaneous manifestations involved gastrointestinal (44.1%), ocular (37.6%), odontogenic (87.1%), and nutritional (79.6%) involvement, as well as pseudosindactilia (16.1%). Chronic malnutrition (71.6%), acute malnutrition (17.6%) and anemia (62.4%) were found. Mortality corresponded to 6 cases (6.5%). 93 cases of EB were reported in INSN, the predominant clinical presentation was the dystrophic form.

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。

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

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.

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

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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.

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

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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.

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

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

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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.

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.

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

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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.

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.

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

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.

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

Epidermolysis Bullosa

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... 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 ...

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

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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.

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 ...

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

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.

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

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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.

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

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.

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, ...

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

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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 ...

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.

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.

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...

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.

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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.

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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 ...

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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.

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 ...

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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 ...

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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 ...

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, ...

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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 ...

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

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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.

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

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...

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

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.

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, ...

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 ...

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 ...

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

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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.

Concha Bullosa Mucopyocele: a Case Report

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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.

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.

"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.

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...

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

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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.

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,

Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq

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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.

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

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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

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

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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.

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...

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.

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.

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

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.

Ichthyosis bullosa of Siemens: Response to topical tazarotene

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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.

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

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.

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.

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.

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.

Ectodermal Dysplasia Skin Fragility Syndrome

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Ayça Alan Atalay

2014-06-01

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

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

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

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.

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.

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.

Mesenchymal Stem Cells for the Treatment of Skin Diseases

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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.

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

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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.

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

Innate sensing of microbial products promotes wound-induced skin cancer

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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

BP180 dysfunction triggers spontaneous skin inflammation in mice.

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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.

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

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...

Manufacturing of Human Extracellular Vesicle-Based Therapeutics for Clinical Use

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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.

Epidermólisis bulosa en el niño y anestesia

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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.

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

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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.

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

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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.

Biocompatibility of electrospun human albumin: a pilot study.

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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.

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

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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.

A model of user engagement in medical device development.

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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.

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

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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.

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

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

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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.

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

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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.

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

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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.

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.

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

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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.

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.

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.

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.

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

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...

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

International Nuclear Information System (INIS)

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

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

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

Impetigo asacause of sepsis ininfants

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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.

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

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

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

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 ...

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 ...

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 ...

Abordaje de lesiones por pénfigo ampolloso en prolapso genital

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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.

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

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

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 ...

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)

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.

Reprodución de tres especies de Clidemia (Melastomataceae en Brasil

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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.

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

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.

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...

Protocolo de atención odontológica en niños con Epidermólisis Ampollar

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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.

AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

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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

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)

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.

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

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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.

Generalized and Naevoid Epidermolytic Ichthyosis in Denmark

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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...

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

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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

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

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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.

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

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.

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.

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

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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

Combined approach for gynecomastia.

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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.

Combined approach for gynecomastia

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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.

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

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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.

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

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

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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.

Cystic Shape Cemento-Ossifying Fibroma of Ethmoid Sinus.

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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.

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

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

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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.

Migraine: A look down the nose.

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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.

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

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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.

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.

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)

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.

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)

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.

Standard guidelines of care for chemical peels

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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.

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.

[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

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

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

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--- 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