Scleroderma-like indurations involving fascias: An abortive form of congenital fascial dystrophy (stiff skin syndrome)

Four patients are described with stone-hard indurations of the skin and sub cutaneous tissue, predominantly on the buttocks and thighs, in the areas of the thickest fascia lata and glutealis, All cases were sporadic, started i n early infancy, were only slightly or not progressive, and showed no visce ral involvement or immunologic abnormalities, In all, the hallmark of the d isease was strikingly enlarged fascia. In one patient, typical features dev eloped progressively for 9 years, and in two patients the changes remained abortive, limited to some areas, and not symmetrical. The fourth patient sh owed some similarity to profound morphea with no cutaneous involvement. Rec ognition of atypical or abortive cases of congenital fascial dystrophy, whi ch is probably a variant of heterogeneous stiff skin syndrome involving exc lusively fascia, is of practical importance, since no therapy is required. However, intensive rehabilitation should start in early infancy and continu e throughout life. The genetic defect of molecular organization of collagen in the fascia results in formation of giant amianthoid-like collagen fibri ls.