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Familial X-linked Ichthyosis, Steroid Sulfatase Deficiency, Mental Retardation, and Nullisomy for Xp223-pter
John Barrie Ross, MB, FRCP(C), DObst, RCOG;
Penelope Witte Allderdice, PhD, FCCMG;
Larry Jay Shapiro, MD;
John Aveling, MB;
Brenda Ann Eales;
Douglas Simms, Jr, MD
Arch Dermatol. 1985;121(12):1524-1528.
Abstract
• Steroid sulfatase (STS)—deficient X-linked ichthyosis was diagnosed in a man with short stature and mental retardation. His generation includes five similarly affected male members. A translocation chromosome is segregating in this Newfoundland kindred. The proband's mother and grandmother have normal skin and are of normal intelligence. From his carrier mother, the proband inherited an X short arm (Xp) to Y long arm (Yq) translocation chromosome, with the entire Y short arm and the X short arm terminal segment deleted (Xp223-pter). His cells are completely deficient in STS activity, confirming assignment of the STS locus to Xp223-pter. Effective management of his ichthyosis included treatment with 6% salicylic acid gel under plastic occlusion and removal of the scales by scrubbing.
(Arch Dermatol 1985;121:1524-1528)
Author Affiliations
From the Division of Dermatology, Dalhousie University, Halifax, Nova Scotia (Dr Ross); the Division of Basic Sciences, Memorial University of Newfoundland, and Janeway Child Health Centre, St John's (Dr Allderdice and Ms Eales); the Departments of Pediatrics and Biological Chemistry, UCLA School of Medicine (Dr Shapiro); Laboratory Department of Health, Stephenville Crossing, Newfoundland (Dr Aveling); and Western Memorial Hospital, Corner Brook, Newfoundland (Dr Simms).
Footnotes
Accepted for publication July 19, 1985.
Read before the Canadian Dermatological Association Meeting, Quebec City, Quebec, June 26, 1984.
Reprint requests to Room 4198, Dickson Centre, 1278 Tower Rd, Halifax, Nova Scotia, Canada B3H 2Y9 (Dr Ross).
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