Restrictive dermopathy: report and review.
Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Manifestations include a tightly adherent, thin, translucent skin with prominent vessels, typical facial changes, generalized joint contractures, enlarged fontanelles, dysplasia of clavicles, respiratory insufficiency, and an enlarged placenta with short umbilical cord. Histologic abnormalities of the skin include thin dermis with paucity and hypoplasia of the appendages and abnormally arranged collagen 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 FADS, such as Pena-Shokeir syndrome, COFS syndrome, Parana hard-skin syndrome, etc. We report on an affected boy of consanguineous parents and 30 previous cases are reviewed.
Mau
U
U
Department of Clinical Genetics, University of Tuebingen, Germany. ulrike.mau@uni-tuebingen.de
Kendziorra
H
H
Kaiser
P
P
Enders
H
H
D002113:Calcification, Physiologic; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9; D003094:Collagen / Q000378:metabolism; D003286:Contracture / Q000151:congenital / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases; D007621:Karyotyping; D007633:Keratins / Q000378:metabolism; D007738:Kyphosis / Q000151:congenital / Q000235:genetics; D008297:Male; D009306:Natal Teeth; D011247:Pregnancy; D012871:Skin Diseases / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D007633:Keratins; D003094:Collagen