title: Ichthyosis follicularis in two girls: an autosomal dominant disorder.
abstract: Ichthyosis follicularis (IF) is a rare disorder of keratinization that has been described primarily in males and proposed as a possible X-linked disorder. We report two black girls with nonscarring alopecia; photophobia; follicular hyperkeratoses; hyperkeratosis of the extensor aspects of the hands, knees, and elbows; fixed, erythematous, perineal plaques; and angular cheilitis who seem to fit the clinical criteria for IF. One girl also had gingival hypertrophy and a hearing deficit. One child's father had identical symptoms. We propose that these girls may have a variant of IF that is inherited as an autosomal dominant trait.
authors.affiliation: Division of Dermatology, University of Connecticut Health Center, Farmington 06032.
authors.forename: M J
authors.initials: MJ
authors.lastname: Rothe
authors.forename: D S
authors.initials: DS
authors.lastname: Weiss
authors.forename: B H
authors.initials: BH
authors.lastname: Dubner
authors.forename: J M
authors.initials: JM
authors.lastname: Weitzner
authors.forename: A W
authors.initials: AW
authors.lastname: Lucky
authors.forename: L
authors.initials: L
authors.lastname: Schachner
mesh_terms: D000505:Alopecia / Q000175:diagnosis; D002675:Child, Preschool; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics* / Q000473:pathology; D007633:Keratins / Q000378:metabolism; D009260:Nail Diseases / Q000473:pathology
chemical_list: D007633:Keratins