Stiff skin syndrome (SSS), AKA congenital fascial dystrophy, is characterized by rock-hard induration and thickening of the skin. Joint immobility and hypertrichosis are often associated. Familial cases showing AD inheritance have been linked to mutations in the fibrillin-1 gene.


Patients develop stony-hard induration of the skin during infancy, childhood, or early adolescence. The pelvic and shoulder girdles are preferentially affected. Patients may have limited (segmental) or diffuse disease.


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