Restrictive dermopathy in two sisters.
Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on 2 siblings from consecutive pregnancies affected with RD. They died of possible sepsis and respiratory insufficiency at 6 and 8 days after birth, respectively. This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases.
D000015:Abnormalities, Multiple; D000328:Adult; D003286:Contracture; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology