Ichthyosis follicularis in two girls: an autosomal dominant disorder.
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.
Rothe
M J
MJ
Division of Dermatology, University of Connecticut Health Center, Farmington 06032.
Weiss
D S
DS
Dubner
B H
BH
Weitzner
J M
JM
Lucky
A W
AW
Schachner
L
L
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
D007633:Keratins