IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia

Ichthyosis follicularis, congenital alopecia, and photophobia are typical f eatures of a rare X-linked recessive disorder termed ichthyosis folliculari s with atrichia and photophobia syndrome. A 3-year-old male with these find ings and severe growth failure, mental retardation, generalized seizures, v ascularizing keratitis, nail anomalies, inguinal hernia, and a normal chrom osome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present, Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical resul ts. (C) 2001 by Elsevier Science Inc. All rights reserved.