ABSTRACT
Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome 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 results.
Subject(s)
Alopecia/congenital , Alopecia/complications , Ichthyosis, X-Linked/complications , Intellectual Disability/complications , Photophobia/complications , Agenesis of Corpus Callosum , Brain/physiopathology , Child, Preschool , Electroencephalography , Epilepsy/complications , Epilepsy/physiopathology , Humans , Ichthyosis, X-Linked/diagnosis , Magnetic Resonance Imaging , Male , Occipital Lobe/physiopathology , Syndrome , Temporal Lobe/physiopathologyABSTRACT
A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.
