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Diseases

Genetic and Rare Diseases Information Center (GARD)

Stiff skin syndrome


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Overview

Stiff skin syndrome (SSS) is a rare condition characterized by hard, thick skin (usually on the entire body), which limits joint mobility and causes flexion contractures (when joints are stuck in a bent position). The condition may be apparent at birth, or may become apparent before age 6. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles has also been reported. SSS is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.[1][2] Treatment is usually supportive and may include physiotherapy.[1]
Last updated: 10/29/2015

References

  1. Chamney S, Cartmill B, Earley O, McConnell V, Willoughby CE. The ocular phenotype of stiff-skin syndrome. Eye (Lond). October 16, 2015; [Epub ahead of print]:
  2. Ada Hamosh. Stiff Skin Syndrome, SSKS. Online Mendelian Inheritance of Man (OMIM). November 20, 2013; http://www.ncbi.nlm.nih.gov/omim/184900.
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In Depth Information

  • 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 Stiff skin syndrome. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.