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KMID : 0357920070410010047
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Korean Journal of Pathology
2007 Volume.41 No. 1 p.47 ~ p.50
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Restrictive Dermopathy In Two Siblings
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Kim Tae-Jung
Lee Yeon-Soo
Lee Ah-Won
Lee Kyo-Young
Ahn Hyun-Young
Park Jong-Sup
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Abstract
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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.
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KEYWORD
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Autopsy, Skin, Autosomal recessive
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