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.
|Titolo:||Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients|
BARBARESCHI, MAURO (Secondo)
|Parole Chiave:||Abnormalities, Multiple; Alopecia; Child, Preschool; Female; Follow-Up Studies; Humans; Ichthyosis, X-Linked; Keratosis; Photophobia; Syndrome|
|Settore Scientifico Disciplinare:||Settore MED/35 - Malattie Cutanee e Veneree|
|Data di pubblicazione:||mag-2002|
|Digital Object Identifier (DOI):||10.1067/mjd.2002.112930|
|Appare nelle tipologie:||01 - Articolo su periodico|