Ichthyosis, X Linked

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

Tel: (800)545-3286

Email: info@scalyskin.org

Internet: 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

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: 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

Tel: (800)595-1265

Email: ichreg@u.washington.edu

Internet: 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

Tel: (877)336-5333

Email: mums@netnet.net

Internet: 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.