Stiff skin syndrome

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Stiff skin syndrome is a rare slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders lower back buttocks and thighs) mild hypertrichosis and hyperpigmentation overlying the affected areas of skin as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules affecting mostly distal interphalangeal joints as well as extracutaneous manifestations including diffuse entrapment neuropathy scoliosis a tiptoe gait and a narrow thorax may be associated. Restrictive pulmonary changes muscle weakness short stature and growth delay have also been reported. No vascular hyperreactivity immunologic abnormalities nor visceral muscular or bone involvement has been described.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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