Skip to content
My WebMD Sign In, Sign Up

Skin Problems & Treatments Health Center

Font Size

Ichthyosis, X Linked

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.

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
2616 N Broad Street
Colmar, PA 18915
Tel: (215)997-9400
Fax: (215)997-9403
Tel: (800)545-3286
Email: info@firstskinfoundation.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: info@skinregistry.org
Internet: http://www.skinregistry.org/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

Today on WebMD

chafing
Pictures and symptoms of the red, scaly rash.
woman with dyed dark hair
What it says about your health.
 
woman with cleaning products
Top causes of the itch that rashes.
atopic dermatitus
Identify and treat common skin problems.
 
itchy skin
Article
shingles rash on skin
Article
 
woman with skin tag
Quiz
Woman washing face
Video
 
woman washing her hair in sink
Video
close up of womans bare neck
Tools
 
Feet
Slideshow
woman with face cream
Quiz