Fascial Dystrophy, Congenital

Jablonska et al. (1989) described 4 patients with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two of the patients were sibs and one was the product of a consanguineous marriage, suggesting autosomal recessive inheritance. The disorder was noted in early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of viscera or muscles and no immunologic abnormalities. The most important laboratory finding was markedly thickened fascia. Jablonska et al. (1989) suggested that this was the human model of the 'tight-skin' mouse (Tsk) as described by Green et al. (1976). Except for apparent autosomal recessive inheritance, the condition appears to be the same as that labeled stiff skin syndrome (184900).