RESTRICTIVE DERMOPATHY - REPORT AND REVIEW

Restrictive dermopathy (RD) is a lethal autosomal recessive genodermat osis (MIM No. 275210) in which tautness of the skin causes fetal akine sia or hypokinesia deformation sequence (PADS). Polyhydramnios with re duced fetal movements is followed by premature delivery at around 31 w eeks gestation, Manifestations include a tightly adherent, thin, trans lucent skin with prominent vessels, typical facial changes, generalize d joint contractures, enlarged fontanelles, dysplasia of clavicles, re spiratory insufficiency, and an enlarged placenta with short umbilical cord, Histologic abnormalities of the skin include thin dermis with p aucity and hypoplasia of the appendages and abnormally arranged collag en bundles, Elastic fibers are nearly missing, The subcutaneous fat is slightly increased, These skin findings usually appear after 22 or 24 weeks of gestation, which is why prenatal diagnosis with skin biopsy may fail. This disease is easily differentiated from other congenital PADS, such as Pena-Shokeir syndrome, COFS syndrome, Parana hard-skin s yndrome, etc, We report on an affected boy of consanguineous parents a nd 30 previous cases are reviewed. (C) 1997 Wiley-Liss, Inc.