Stiff skin syndrome

Common Name(s)

Stiff skin syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stiff skin syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Stiff skin syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Stiff skin syndrome--case report.
 

Author(s): Adriana Gutstein da Fonseca Amorim, Marcia Kalil Aidé, Sandra Maria Barbosa Durães, Mayra Carrijo Rochael

Journal: An Bras Dermatol. ;86(4 Suppl 1):S178-81.

 

Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild hypertrichosis and limited joint mobility. No effective treatment has yet been found. Exercises and rehabilitative therapy are important in maintaining ...

Last Updated: 9 Nov 2011

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An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.
 

Author(s): Hannah L Bader, Alison L Ruhe, Lauren W Wang, Aaron K Wong, Kari F Walsh, Rebecca A Packer, Jonathan Mitelman, Kathryn R Robertson, Dennis P O'Brien, Karl W Broman, G Diane Shelton, Suneel S Apte, Mark W Neff

Journal:

 

Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, ...

Last Updated: 23 Sep 2010

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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
 

Author(s): B L Loeys, E E Gerber, D Riegert-Johnson, S Iqbal, P Whiteman, V McConnell, C R Chillakuri, D Macaya, P J Coucke, A De Paepe, D P Judge, F Wigley, E C Davis, H J Mardon, P Handford, D R Keene, L Y Sakai, H C Dietz

Journal: Sci Transl Med. 2010 Mar;2(23):23ra20.

 

The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 ...

Last Updated: 8 Apr 2010

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Reviews from the PubMed Database

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The terms "Stiff skin syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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