title: Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients.
abstract: The IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered.
authors: Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, IRCCS Policlinico, Università di Milano, Italia. stefanodoc@tiscalinet.it
authors: Stefano
authors: S
authors: Cambiaghi
authors: Mauro
authors: M
authors: Barbareschi
authors: Gianluca
authors: G
authors: Tadini
mesh_terms: D000015:Abnormalities, Multiple; D000505:Alopecia / Q000151:congenital* / Q000175:diagnosis; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis / Q000235:genetics*; D007642:Keratosis / Q000151:congenital* / Q000175:diagnosis; D020795:Photophobia / Q000151:congenital* / Q000175:diagnosis; D013577:Syndrome