Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.
We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are non-obligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.
Department of Dermatology, University of Münster, Federal Republic of Germany.
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Hamm
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Meinecke
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Traupe
D000505:Alopecia / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000473:pathology; D007223:Infant; D008027:Light; D008297:Male; D013577:Syndrome