title: Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?
abstract: We report three members of a family with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. They also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. As far as we are aware, this combination of clinical features has not been described previously.
authors.affiliation: Department of Dermatology, Akdeniz University Medical Faculty, Antalya, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Başaran
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: E
authors.initials: E
authors.lastname: Alpsoy
authors.forename: G G
authors.initials: GG
authors.lastname: Yilmaz
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009260:Nail Diseases / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome