The Stiff Skin Syndrome (SSS) is a rare genetic disorder associated with disordered transforming growth factors beta (TGF-beta) signaling.
Gene: FBN1 (product fibrillin-1)
Inheritance: autosomal dominant
(1) rock-hard skin (“woody”)
(2) limited joint mobility
(3) mild hypertrichosis (hirsutism)
(4) postural and thoracic wall abnormalities
Skin biopsy shows sclerotic collagen bundles in the deep reticular dermis and in subcutaneous septa.
Differences from scleroderma:
(1) skin changes at birth or noted during infancy
(3) no telangiectasia
(4) no nail fold changes
(5) no sclerodactyly
(6) no visceral involvement
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