Abstract
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 nonobligatory 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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Abbreviations
- IFAP:
-
ichthyosis follicularis, atrichia, and photophobia syndrome
References
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Hamm, H., Meinecke, P. & Traupe, H. Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr 150, 627–629 (1991). https://doi.org/10.1007/BF02072621
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DOI: https://doi.org/10.1007/BF02072621