Restrictive dermopathy

Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital sk in disease. Rigdity of translucent thin skin, which is thus highly vulnerab le and tears,spontaneously causes intra-uterine fetal akinesia or hypokines ia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in 0 position,and generalized joint contractures (arthrogryposi s). Poly hydramnios and pulmonary hypoplasia are distinctive manifestations , leading to respiratory insufficiency and premature delivery at about 31 w eeks of gestation. We report on a case of a prematurely born infant who pre sented with the typical morphological features and describe the light- and electronmicroscopical findings as described in the literature.