All issues > Volume 50(3); 2007

Case Report

Korean J Pediatr. 2007;50(3):306-310. Published online March 15, 2007.

A case of restrictive dermopathy

Seung Ik SI Lee¹, Chang Hee CH Hong¹, Yun Ha YH Cheong¹, Mi Seon MS Kang², Jong Beom JB Sin¹

¹Departments of Pediatrics, College of Medicine, Inje University, Busan, Korea
²Departments of Pathology, College of Medicine, Inje University, Busan, Korea

Correspondence Jong Beom JB Sin ,Email: pedsin@inje.ac.kr

Abstract

Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.

Keywords :Restrictive dermopathy , Joint contractures , Skin dysplasia , Fetal akinesia