title: Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?
abstract: 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.
authors.affiliation: Department of Dermatology. Universidad Nacional de Tucumán, Tucumán, 4000, Argentina. boente@networld.com.ar
authors.forename: M C
authors.initials: MC
authors.lastname: Boente
authors.forename: H
authors.initials: H
authors.lastname: Bibas-Bonet
authors.forename: A M
authors.initials: AM
authors.lastname: Coronel
authors.forename: R A
authors.initials: RA
authors.lastname: Asial
mesh_terms: D000505:Alopecia / Q000473:pathology; D002179:Candidiasis, Cutaneous / Q000473:pathology*; D002675:Child, Preschool; D002908:Chronic Disease; D007644:Darier Disease / Q000473:pathology*; D003638:Deafness / Q000473:pathology; D003937:Diagnosis, Differential; D006197:Hair / Q000002:abnormalities*; D006552:Hernia, Inguinal / Q000473:pathology*; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D007634:Keratitis / Q000473:pathology*; D008297:Male; D010375:Pedigree; D020795:Photophobia / Q000473:pathology; D012640:Seizures / Q000473:pathology*; D013577:Syndrome