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Genetic and Rare Diseases Information Center (GARD)

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Stiff skin syndrome


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Overview

Stiff skin syndrome is a connective tissue disorder characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes stiff joints. Other occasional findings include lipodystrophy (loss of body fat), muscle weakness, and short stature. Only about 40 cases have been reported in the literature. This condition is thought to be caused by mutations in the FBN1 gene and inherited in an autosomal dominant fashion.[1][2]
Last updated: 6/15/2011

References

  1. Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20375004. Accessed 6/14/2011.
  2. Stiff Skin Syndrome, SSKS. Online Mendelian Inheritance of Man (OMIM). August 2010; http://www.ncbi.nlm.nih.gov/omim/184900. Accessed 6/14/2011.
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In Depth Information

  • The 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.