Stiff Skin Syndrome: A Case Report

Abstract

Stiff skin syndrome (SSS) is a disease similar to scleroderma with an unknown etiology. Stone-hard areas of skin are observed from birth or in early childhood. In this article we describe a 15-year-old girl with skin hardening and limitation of movement. We diagnosed the case as SSS, of which we have not encountered a similar report in the Turkish literature.

Eleven‐year‐old girl with skin hardening and restricted mobility in the lower limbs

“…The dermis appears thickened, with the collagen bundles slightly enlarged and the cutaneous adnexae well preserved. There are no inflammatory infiltrate or vascular abnormalities, and some cases may show a mild deposition of mucopolysaccharides within the dermis 1,6,8 . The pathogenesis of SSS remains unclear.…”

Stiff skin syndrome

“…Jablonska and Blaszczyk proposed that these cases were classified as congenital fascial dystrophy, a distinct subset of SSS 8 . However, involvement of the fascia has not always been demonstrated; some cases show only mild fibrosis in the dermis but no involvement of the fascia 9,10 …”

“…The best management of these patients is through rehabilitation exercises to prevent contractures and restrictive pulmonary changes that may develop over time. Rehabilitation exercises should start at an early age and be continued throughout life 10 …”

Familial localized stiff skin syndrome

“…Although the first patient was described in 1968, this condition was defined by McKusik and Esterly in 1971 in four patients showing joint limitation, induration of buttocks or upper thighs with mild hypertrichosis 3 . In this series of cases, there were an affected mother and her two children.…”