title: Epidermolytic Hyperkeratosis--case report.
abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Marcos Takeyoshi
authors.initials: MT
authors.lastname: Hayashida
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Grasiela Lissa
authors.initials: GL
authors.lastname: Mitsui
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Natalia Ivanoff dos
authors.initials: NI
authors.lastname: Reis
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Giovana
authors.initials: G
authors.lastname: Fantinato
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Domingos
authors.initials: D
authors.lastname: Jordão Neto
authors.affiliation: Hospital Heliopólis, São Paulo, SP, Brazil.
authors.forename: Ana Maria da Cunha
authors.initials: AM
authors.lastname: Mercante
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000473:pathology* / Q000628:therapy; D007057:Ichthyosis / Q000473:pathology; D012867:Skin / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000473:pathology