Mosaic epidermolytic ichthyosis--case report

• Published in: Anais brasileiros de dermatología Vol. 88; no. 6 Suppl 1; pp. 116 - 119
• Main Authors: Mendes, Marcela Sena Teixeira, Kouzak, Samara Silva, Aquino, Thaissa Araújo, Takano, Gustavo Henrique Soares, Lima, Antonio de Padua
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Dermatologia 01-12-2013
• Subjects: Adult; Biopsy; Case Report; DERMATOLOGY; Female; Humans; Hyperkeratosis, epidermolytic; Hyperkeratosis, Epidermolytic - genetics; Hyperkeratosis, Epidermolytic - pathology; Ichthyosis; Keratins - genetics; Mosaicism; Mutation; Hiperceratose epidermolítica; Ictiose; Mosaicism; Hyperkeratosis, epidermolytic; Mosaicismo; Ichthyosis
• ISSN: 0365-0596; 1806-4841; 1806-4841; 0365-0596
• DOI: 10.1590/abd1806-4841.20132203

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.