title: Do you know this syndrome? Pachyonychia congenita.
abstract: Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, until recently not diagnosed. The active search for familial cases in patients with suspicious manifestations and identification of peculiar characteristics of its subtypes, as multiplex steatocystoma, provide early clinical diagnosis. In addition, nurture the family counseling and informations about prognosis.
authors.affiliation: Federal University of Bahia, Salvador, Brazil. gleisonvduarte@yahoo.com.br
authors.forename: Gleison Vieira
authors.initials: GV
authors.lastname: Duarte
authors.forename: Rosângela
authors.initials: R
authors.lastname: Cunha
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D007644:Darier Disease; D005138:Eyebrows / Q000002:abnormalities; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D007642:Keratosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D053549:Pachyonychia Congenita / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D055815:Young Adult
chemical_list: D053537:Keratin-17