Opis choroby * EnglishPolish Pobierz sekcję do PDF Definicja 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. Dane Klasyfikacja Choroba Kod ORPHA 2833 Kod OMIM 228020 Kod ICD10 L98.8 Kod ICD11 EE6Y *Źródło Rozszerzony opis choroby Pobierz sekcję do PDF Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl