The Stiff Skin Syndrome (SSS) is a rare genetic disorder associated with disordered transforming growth factors beta (TGF-beta) signaling.
Chromosome: 15q21
Gene: FBN1 (product fibrillin-1)
Inheritance: autosomal dominant
Clinical features:
(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
(2) hypertrichosis
(3) no telangiectasia
(4) no nail fold changes
(5) no sclerodactyly
(6) no visceral involvement
