Mosaic epidermolytic ichthyosis - case report

• Autor(a) principal: Mendes,Marcela Sena Teixeira
• Data de Publicação: 2013
• Outros Autores: Kouzak,Samara Silva, Aquino,Thaissa Araújo, Takano,Gustavo Henrique Soares, Lima,Antonio de Padua
• 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=S0365-05962013000800116
• topic: Hyperkeratosis, epidermolytic; Ichthyosis; Mosaicism

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.