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Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?


European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000, Gènes et peau

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Author(s) : M. del Boente, H. Bibas-Bonet, A.M. Coronel, R.A. Asial

Summary : 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.

Keywords : KID syndrome, alopecia, IFAP, X-linked genodermatoses

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