Epidermolytic Hyperkeratosis - case report

• Autor(a) principal: Hayashida,Marcos Takeyoshi
• Data de Publicação: 2015
• Outros Autores: Mitsui,Grasiela Lissa, Reis,Natalia Ivanoff dos, Fantinato,Giovana, Jordão Neto,Domingos, Mercante,Ana Maria da Cunha
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Anais brasileiros de dermatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000600888
• topic: Acitretin; Hyperkeratosis, epidermolytic; Ichthyosis bullosa of siemens

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 girlwho 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.