Stiff skin syndrome
Stiff skin syndrome is a connective tissue disorder. Signs and symptoms tend to present at birth or in early childhood. Children with this condition may have delayed growth but typically have normal learning and motor development. Stiff skin syndrome causes hard, thick skin which can hinder joint movement. Lesions on the stomach often have a "cobblestone" appearance. Occasionally people with stiff skin syndrome have a loss of body fat (lipodystrophy), muscle weakness, extra hair (hypertrichosis) and/or short stature. While the actual prevalence of stiff skin syndrome is not known, only about 40 cases of have been reported in the literature. This condition is caused by mutations in the FBN1 gene and inherited in an autosomal dominant fashion.
Last updated: 11/4/2014
- 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.
- Stiff Skin Syndrome, SSKS. Online Mendelian Inheritance of Man (OMIM). August 2010; http://www.ncbi.nlm.nih.gov/omim/184900. Accessed 6/14/2011.
- Amorim AG et al. Stiff skin syndrome--case report. An Bras Dermatol. 2011 Jul-Aug; 86(4 Suppl 1):S178-81. http://www.ncbi.nlm.nih.gov/pubmed/22068804. Accessed 11/4/2014.
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- 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.