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The Korean Journal of Pathology 2007;41(1): 47-50.
Restrictive Dermopathy In Two Siblings.
Tae Jung Kim, Youn Soo Lee, Hyun Young Ahn, Ahwon Lee, Kyo Young Lee, Jong Sup Park
1Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 137-040, Korea. klee@catholic.ac.kr
2Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul 137-040, Korea.
ABSTRACT
Restrictive dermopathy (RD) is a rare and lethal autosomal recessive skin disorder that presents with rigid and tense skin, multiple joint contractures and fixed facial expression. We report herein two siblings from consecutive pregnancies affected with RD. Both siblings died of respiratory insufficiency at a day after birth. An autopsy for the first baby and a skin necropsy for the second baby were performed. The gross findings of both were characterized by thin, translucent skin with prominent vessels, multiple joint contractures resulting in hyperflexed position, and a typical facial appearance with a fixed open mouth in the O-position. Such manifestations are typical features of RD. At the autopsy of the first baby, no internal organ abnormality was found. The histologic findings of the skin of the second baby revealed a thin dermis consisting of a flat dermal-epidermal junction, hypoplastic skin appendages and compactly arranged collagen bundles. Elastic tissue stain showed markedly decreased elastic fibers.
Key Words: Autopsy; Skin; Autosomal recessive
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