Stiff Skin Syndrome

Known as: SSKS 
A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the… (More)
National Institutes of Health

Papers overview

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2015
2015
Fibrillin-1 is the major component of the 10-12 nm diameter extracellular matrix microfibrils. The majority of mutations… (More)
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2011
2011
Stiff skin syndrome is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild… (More)
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Highly Cited
2011
Highly Cited
2011
Systemic sclerosis (SSc) is a complex and incompletely understood disease associated with fibrosis in multiple organs. Recent… (More)
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Highly Cited
2010
Highly Cited
2010
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff… (More)
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2010
2010
BACKGROUND Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of… (More)
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2009
2009
OBJECTIVES Stiff skin syndrome (SSS) is a rare scleroderma-like syndrome of unknown aetiology. A 16-year-old boy presented with… (More)
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Review
2009
Review
2009
Observations: We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder… (More)
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2003
2003
Two children with chronic and asymmetric skin indurations are presented. The clinical and pathologic features are suggestive of… (More)
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1997
1997
Congenital fascial dystrophy is an uncommon disorder that may mimic scleroderma. The skin is bound down and feels "wood hard" on… (More)
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1989
1989
Four patients are described with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs… (More)
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