Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome.
Our patient's disease was similar to the persons with stiff skin syndrome described by Esterly and McKusick (1). Stony-hard indurations of the skin and deeper tissue were generalized but most pronounced in the buttocks, thighs, and legs, with limitation of joint mobility and particularly extensive contractures in the lower limbs. The disease was noticed when the patient was 18 months old, and was nonprogressive within a follow-up period of 12 years. There was no visceral involvement except functional impairment of the lungs, probably due to thickened thoracic fascia. Biochemical, histologic, and electron microscopic studies of the skin and muscle were not remarkable. In skin fibroblasts, collagen synthesis was increased and was accompanied by elevated activity of the prolylhydroxylase and lysylhydroxylase, whereas the transferases were not altered. The fascia was considerably thickened, but contained no inflammatory infiltrates. The significant electron microscopic finding was the presence of amianthoid-like collagen fibers in the fascia.
D001706:Biopsy; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis; D005205:Fascia / Q000473:pathology*; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology*; D012871:Skin Diseases / Q000151:congenital* / Q000473:pathology
D003094:Collagen