P44.18: Restrictive dermopathy : lethal tight skin contracture syndrome

Abstract

Restrictive dermopathy (RD) is a very rare autosomal recessive skin disorder that leads inevitably to death shortly after a birth. This disease, which was first described by Witt et al in 1986, has a clinical picture to allow an immediate diagnosis: microstomia and micrognathia, thin but very tight translucent skin causing arthrogyrophosis multiplex congenital. Associated anomalies of the viscera include hepatosplenomegaly, ureteral duplication, and pulmonary hypoplasia. We had experienced two affected siblings of restrictive dermopathy. A 31-year-old pregnant women, para 0-1-2-0, presented at 5 weeks of gestation for prenatal care, who had a previous preterm delivery because of preterm premature rupture of membrane at 26 gestational weeks. The first baby was delivered 3 weeks after continuous amnioinfusion and died immediately with a feature of generalized joint contracture, a dysplastic face, and pulmonary hypolasia. This pregnancy was uneventful until 24 weeks except for reduced fetal movement and borderline oligohydramnios. Ultrasound study showed a persistent fetal hypokinetic movement and microgastria around the 26th week. Premature rupture of membrane at 29 weeks recurred and the female infant was delivered 3 days later by Cesarean section. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dysmorphic fingers and toes with generalized joint contractures, and muscular hypotonia, respiratory insufficiency. Histological findings of skin biopsy include thin dermis with paucity and hypoplasia of appendages and abnormally arranged collagen bundles and absence of elastic fibers.