Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased suscep...

EB: epidermolysis bullosa HSV: herpes simplex virus INTRODUCTION Inherited epidermolysis bullosa (EB) are genodermatoses characterized by the formation of blisters after minor trauma. There are 4 major types of inherited EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. Classification is performed according to the mode of inheritance, the phenotype, the level of skin cleavage ...

Introduction Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa characterized by universal alopecia and atrophy of the skin. We report a deficiency of the 180-kD bullous pemphigoid antigen in three patients with GABEB from unrelated families. We screened specimens of clinically normal skin from nine junctional epidermolysis bullosa ...

Epidermolysis bullosa simplex (EBS) is a heritable skin disorder characterized by skin fragility and blistering. While its most severe variant, dystrophic epidermolysis bullosa (DEB) is associated with squamous cell carcinoma (SCC), the development of extracutaneous neoplasms in EBS is extremely rare. We report a novel case of supratentorial primitive neuroectodermal tumor (sPNET) in a 7-year m...

Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...

The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and one secondary to anchoring fibril dysfunction - type VII collagen (dystrophic epidermolysis bullosa). In pemphigus foliaceus, acantholytic pheno...

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