Important It is possible that the main title of the report Ichthyosis, X Linked is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Placental Steroid Sulfatase Deficiency; STS
Steroid Sulfatase Deficiency Disease; SSDD
Recessive X-linked Ichthyosis
Steroid Sulfatase Deficiency
X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales.
Foundation for Ichthyosis & Related Skin Types 2616 N Broad Street Colmar, PA 18915 Tel: (215)997-9400 Fax: (215)997-9403 Tel: (800)545-3286 Email: firstname.lastname@example.org Internet: http://www.firstskinfoundation.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/
National Registry for Ichthyosis and Related Disorders University of Washington Dermatology Dept. Box 356524 1959 N.E. Pacific Street Seattle, WA 98195-6524 Tel: (800)595-1265 Email: email@example.com Internet: http://www.skinregistry.org/
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 12/1/2004 Copyright 1988, 1989, 1991, 1992, 1993, 1997, 2004 National Organization for Rare Disorders, Inc.
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