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Ichthyosis, X Linked
Important
It is possible that the main title of the report Ichthyosis, X Linkedis not the name you expected.
Synonyms
- Placental Steroid Sulfatase Deficiency; STS
- Steroid Sulfatase Deficiency Disease; SSDD
- Recessive X-linked Ichthyosis
- Steroid Sulfatase Deficiency
Disorder Subdivisions
- None
General Discussion
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.
Resources
Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales
PA
19454
Tel: (215)619-0670
Fax: (215)619-0780
800: (800)545-3286
info@scalyskin.org
http://www.scalyskin.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info
National Registry for Ichthyosis and Related Disorders
University of Washington
Dermatology Department, Box 356524
1959 N.E. Pacific
Seattle
WA
98195-6524
Tel: (206)616-3179
Fax: (206)616-6793
800: (800)595-1265
ichreg@u.washington.edu
http://www.skinregistry.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 12/1/2004
Copyright 1988, 1989, 1991, 1992, 1993, 1997, 2004 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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