Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. 191 13