title: Mosaic epidermolytic ichthyosis--case report.
abstract: 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.
authors.affiliation: University of Brasília, University Hospital of Brasilia, BrasiliaDF, Brazil.
authors.forename: Marcela Sena Teixeira
authors.initials: MS
authors.lastname: Mendes
authors.affiliation: University of Brasília, University Hospital of Brasilia, BrasiliaDF, Brazil.
authors.forename: Samara Silva
authors.initials: SS
authors.lastname: Kouzak
authors.affiliation: University of Brasília, University Hospital of Brasilia, BrasiliaDF, Brazil.
authors.forename: Thaissa Araújo
authors.initials: TA
authors.lastname: Aquino
authors.affiliation: University of Brasília, University Hospital of Brasilia, residency program in Pathology, BrasiliaDF, Brazil.
authors.forename: Gustavo Henrique Soares
authors.initials: GH
authors.lastname: Takano
authors.affiliation: University of Brasília, University Hospital of Brasilia, residency program in Dermatology, BrasiliaDF, Brazil.
authors.forename: Antonio de Padua
authors.initials: Ade P
authors.lastname: Lima
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics / Q000473:pathology*; D007633:Keratins / Q000235:genetics; D009030:Mosaicism; D009154:Mutation
chemical_list: D007633:Keratins