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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked ichthyosis


Other Names for this Disease
  • Steroid sulfatase deficiency
  • SSD
  • SSDD
  • Steroid sulfatase deficiency disease
  • Placental steroid sulfatase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

X-linked ichthyosis is a disorder in which the skin cells are produced at a normal rate but they do not separate properly at the surface of the stratum corneum (the outermost layer of the skin). This slows the rate of shedding of the skin cells, resulting in a build-up of scales. The scales of X-linked ichthyosis are often dark and usually cover only a portion of the body. Typically, the trunk and back of the neck are more likely to be affected. Scales are usually not found on the face, scalp, palms of the hands, and soles of the feet. [1][2] X-linked ichthyosis mostly affects males. It is usually caused by a mutation or deletion in the STS gene and is inherited in an X-linked recessive manner. In rare cases, the ichthyosis can be part of a genetic syndrome in which other parts of the body are affected.[2][3] Topical treatment may consist of alpha-hydroxy acids, lubricating bath oils, and emollients.[1][2] For adult patients, systemic retinoids may be an option, especially during winter when the ichthyosis is often more severe. The ichthyosis is life-long, but the scaling may improve with age.[2]
Last updated: 3/15/2016

References

  1. X-Linked Ichthyosis Fact Sheet. Foundation for Ichthyois & Related Skin Types. http://www.firstskinfoundation.org/content.cfm/Ichthyosis/X-Linked-Ichthyosis-Fact-Sheet/page_id/891?gclid=CNOH24vtwssCFcG6Gwodhy4NOw. Accessed 3/15/2016.
  2. Oji, Vinzenz. Recessive X-linked ichthyosis. Orphanet. March, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461. Accessed 3/15/2016.
  3. Janniger, Camila. X-Linked Ichthyosis. Medscape Reference. October 29, 2015; http://emedicine.medscape.com/article/1111398-overview. Accessed 3/15/2016.
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Basic Information

  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked ichthyosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Steroid sulfatase deficiency
  • SSD
  • SSDD
  • Steroid sulfatase deficiency disease
  • Placental steroid sulfatase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.