Cases reported "Epidermolysis Bullosa"

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11/62. Artificial skin as a valuable adjunct to surgical treatment of a large squamous cell carcinoma in a patient with epidermolysis bullosa.

    BACKGROUND: Among tissue-engineered skins, two bilayered cellular constructs and one cryopreserved dermal substitute have been approved for the treatment of epidermolysis bullosa. Nevertheless, the application of artificial skin technology to surgical treatment of squamous cell carcinomas in a patient with epidermolysis bullosa has never been reported. OBJECTIVE: To reconstruct the large defect remaining after squamous cell carcinoma excision in a patient with dominantly inherited dystrophic epidermolysis bullosa. methods: To apply a 10 x 15 cm Integra sheet (Integral life-sciences Corporation, Plainsboro, NJ, USA) (an acellular collagen matrix coated with a thin polysiloxane elastomer) to the excised area and 3 weeks later to cover the Integra sheet with an ultrathin meshed skin graft. RESULTS: The graft take was complete, and the donor site totally regenerated, except for three small bullae at 7 weeks postoperatively. CONCLUSION: Integra offers the advantage of filling huge defects with its dermal layer of collagen fibers and provides an optimal graft bed. This first step makes it possible to use very thin grafts 3 weeks later.
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keywords = defect
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12/62. Kindler syndrome: a case report and proposal for clinical diagnostic criteria.

    Kindler syndrome is a rare hereditary disorder characterized by acral blister formation in infancy and childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. Since it was first described in 1954, less than 100 cases have been reported worldwide. Recently it has been reported that Kindler syndrome is the first genodermatosis caused by a defect in the actin-extracellular matrix linkage, and the gene was mapped to chromosome 20p12.3. The clinical features of the syndrome have been annotated by different authors but the definite of criteria to confirm the diagnosis have not yet been generally accepted. We report a case of Kindler syndrome that presents a full spectrum of clinical manifestations, and we propose a set of clinical criteria for diagnosis.
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keywords = defect
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13/62. Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome.

    ectodermal dysplasia/skin fragility syndrome (EDSFS) (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Our study was performed to further characterize the histopathology of EDSFS in different cutaneous sites with a special emphasis on the hypotrichosis and keratoderma. A total of 4 biopsies were obtained from 2 EDSFS female patients, aged 9 days to 4 years. The biopsies were taken from the blistering skin of the leg and trunk, the hyperkeratotic skin of the sole, and the hypotrichotic scalp. The observed histopathologic features included: widened intercellular spaces, suprabasal intraepidermal clefts and blisters with acantholytic keratinocytes, detachments of the upper epidermal layers due to disadhesion, varying degrees of dyskeratosis that were much more pronounced in the plantar hyperkeratotic skin, and increased number of catagen-telogen hair follicles. The electron-microscopic observations attributed the disadhesion and acantholysis to reduced numbers of small hypoplastic desmosomes, and the dyskeratosis to the detachment of intracellular keratin filaments from the desmosomes with perinuclear condensation, which might also underlie the plantar keratoderma. The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling.
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keywords = defect
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14/62. cleft lip and cleft palate closure in 13 month-old female with epidermolysis bullosa.

    Skin blistering and fragility are hallmarks of the rare hereditary disease called epidermolysis bullosa, affecting mainly the skin but also all mucocutaneous layers and sometimes the aerodigestive tract. Orofacial clefts are among the most common structural birth defects in humans, seen about 2 cases per 1000 births. This case report illustrates the closure of cleft lip and cleft palate in 13 month female with epidermolysis bullosa.
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15/62. Bart syndrome with associated anomalies.

    Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.
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ranking = 89.332654667236
keywords = congenita
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16/62. Carmi syndrome complicated by pharyngo-esophageal perforation.

    We describe a neonate having congenital pyloric atresia (CPA) associated with epidermolysis bullosa (EB), also known as Carmi syndrome. The case is unusual as it was complicated with pharyngo-esophageal perforation (PEP) and a definite family history of EB in pervious generations could be recorded.
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ranking = 89.332654667236
keywords = congenita
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17/62. Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa.

    A patient with dystrophic epidermolysis bullosa inversa was studied using electron microscopy and indirect immunofluorescence using antibodies to matrix macromolecules of the dermoepidermal junction zone. There was splitting below the lamina densa with an apparently normal basement membrane, but a lack of intact anchoring fibrils and with a disarranged papillary connective tissue. Indirect immunofluorescence examination with antibodies to type VII collagen, the major structural protein of anchoring fibrils, showed a normal linear staining pattern. Synthesis of type VII collagen which is unable to form stable, resistant anchoring fibrils may be a distinct feature of this subtype of recessive dystrophic epidermolysis bullosa.
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keywords = defect
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18/62. mitral valve prolapse in a patient with epidermolysis bullosa.

    mitral valve prolapse has been associated with several connective tissue and developmental disorders, including ehlers-danlos syndrome, Marfan's disease; pseudo-xanthoma elasticum, myotonic dystrophy, cardiomyopathy, Ebstein's anomaly of the tricuspid valve and atrial septal defect of the ostium secundum variety. Presented here is a case of mitral valve prolapse in a patient with epidermolysis bullosa. The author is unaware of any previously reported cases of this association.
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19/62. epidermolysis bullosa: report of one case.

    epidermolysis bullosa (EB) is a group of inherited skin diseases manifested as bullae formation induced by minor trauma. According to the anatomical level of skin splitting, it could be classified mainly into three types: simplex, junctional and dystrophic EB. We have a female term newborn noted to have had skin defect and ulceration over lower legs concurrent with oral mucosal ulceration and blister formation since birth. New blisters occurred over friction and pressure areas shortly after birth. The histopathologic pictures revealed dystrophic type of EB. These lesions seemed responsive to phenytoin and topical skin care, healing gradually with minimal scarring and atrophy. However, it is important to follow these patients to help alleviate complications of extracutaneous involvement which may occur during later life.
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keywords = defect
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20/62. A case of pyloric atresia associated with junctional epidermolysis bullosa.

    We describe an infant with congenital pyloric atresia associated with junctional epidermolysis bullosa, which is now recognized as an autosomal recessive syndrome. laparotomy revealed a membrane in the pyloric antrum. Clinical manifestations included intractable diarrhoea and malnutrition due to protein-losing gastroenteropathy. A satisfactory nutritional state could not be obtained during the clinical course and the child died.
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ranking = 89.332654667236
keywords = congenita
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