Arch Dermatol 1992 Feb;128(2):228-31
Department of Dermatology, Stanford University, Calif.
Am J Med Genet 1997 Aug;71(2):179-85
Department of Clinical Genetics, University of Tuebingen, Germany.
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. Read More
Am J Perinatol 2001 ;18(1):39-47
Institute of Pathology, Children's Hospital, University of Heidelberg, Germany.
We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Read More
Arch Dermatol 1992 Feb;128(2):232-5
Department of Dermatology, University of Nijmegen, The Netherlands.
Background: Restrictive dermopathy is an autosomal recessive phenotype characterized by universal tautness of skin resulting in fetal akinesia and death during the neonatal period. The clinical signs and symptoms of this uncommon disease are described in two brothers, and evidence is provided that fetal biopsy specimens obtained during the 20th week of gestational age are nondiagnostic.
Observations: The first patient was a growth-retarded preterm boy suffering from generalized desquamation, marked joint contractures, and facial hypoplasia. Read More
Turk J Pediatr 2008 Sep-Oct;50(5):492-4
Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.
Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. Read More