DERMATOSPARAXIS IN CHILDREN - A CASE-REPORT AND REVIEW OF THE NEWLY RECOGNIZED PHENOTYPE

Background: Dermatosparaxis is an autosomal recessive connective tissu e disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three human s with characteristic biochemical and electron-microscopic findings ha ve been recognized to date. Observations: We describe the clinical and electron-microscopic findings in an affected boy who presented at bir th with large full-thickness groin fissures, micrognathia, large fonta nelles, umbilical hernia, and dental laminal cysts. He subsequently ex hibited marked skin fragility, blue sclerae, joint laxity, increased b ruisability, and growth retardation. The diagnosis of dermatosparaxis was made by electron-microscopic findings consisting of characteristic small, irregular, and circular collagen fibers in the skin. His pheno type is strikingly similar to two other reported children with the dis order, which is now classified in humans as Ehlers-Danlos VII-C. Concl usions: The newly recognized phenotype of Ehlers-Danlos VII-C is a dis tinct connective tissue disorder characterized by marked skin fragilit y and laxity, blue sclerae, increased bruisability, micrognathia, umbi lical hernia, and growth retardation. A suspected clinical diagnosis c an be confirmed by electron-microscopic and biochemical studies of con nective tissue.