Diseases & Conditions


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Ichthyosis, X Linked


Synonyms of Ichthyosis, X Linked
  • Placental Steroid Sulfatase Deficiency; STS
  • Recessive X-linked Ichthyosis
  • Steroid Sulfatase Deficiency
  • Steroid Sulfatase Deficiency Disease; SSDD

Disorder Subdivisions



    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.

    Organizations related to Ichthyosis, X Linked
    • Foundation for Ichthyosis & Related Skin Types
      1364 Welsh Road G2
      North Wales PA 19454
      Phone #: 215-619-0670
      800 #: 800-545-3286
      e-mail: info@scalyskin.org
      Home page: http://www.scalyskin.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • National Registry for Ichthyosis and Related Disorders
      University of Washington
      Seattle WA 98195-6524
      Phone #: 206-616-3179
      800 #: 800-595-1265
      e-mail: ichreg@u.washington.edu
      Home page: http://www.skinregistry.org



    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