Congenital lethal skin disorder

INTRODUCTION

Restrictive dermopathy (RD) is a rare, autosomal- recessive, lethal skin disease. It is characterized by rigid and tight adherent skin, multiple joint contrac­tures, a typical facial appearance and pulmonary hypoplasia. Facial anomalies consist of micrognathia, low-set ears, a fixed open mouth, and small pinched nose. Because of restricted joint movement, the majority of patients have intrauterine growth retardation, and joint contractures.

Patients may die immediately following birth or within 1 week due to respiratory insufficiency. It is a rare disorder that has not yet been reported in the Korean literature. We herein present a case of restrictive dermopathy. generic cialis 20mg

Category: Diseases / Tags: Congenital lethal skin disorder, Restrictive dermopathy

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