Restrictive Dermopathy is a lethal autosomal recessive genodermatosis, in which extremely taut skin leads to in utero growth retardation and reduced fetal movements. Affected fetuses and patients have a tightly adherent skin, which is thin and translucent. They also show a typical facies, generalized joint contractures, enlarged fontanelles, clavicular dysplasia, respiratory insufficiency, and an enlarged placenta with a short umbilical cord. The skin abnormalities lead to fetal akinesia or hypokinesia deformation sequence, resulting in premature delivery at around 31 weeks gestational age. Histologic abnormalities include abnormal maturation of the epidermis, dermis, hypodermis, and cutaneous appendages. The dermis is thin with compactly arranged collagen bundles and scant elastic fibers. There is paucity and hypoplasia of the appendages. The epidermal rete ridges are flattened and the dermal-hypodermal border is remarkably straight.
The cutaneous abnormalities do not appear until 22-24 weeks' gestational age. Therefore, prenatal diagnosis is not very easy. Differential diagnoses for restrictive dermopathy include other disorders of fetal akinesia, including Pena-Shokeir syndrome, COFS syndrome, Parana Hard-Skin syndrome, and Hutchinson-Gilfor Progeria syndrome. Affected patients are either still-born or survive only a few weeks after birth. The ultimate cause of death is usually respiratory insufficiency.