남매에게서 나타난 제한 피부병증
Restrictive Dermopathy In Two Siblings
김태정, 이연수, 이아원, 이교영, 안현영, 박종섭,
소속 상세정보
김태정 ( Kim Tae-Jung )
가톨릭대학교 의과대학 임상병리학교실
이연수 ( Lee Yeon-Soo )
가톨릭대학교 의과대학 임상병리학교실
이아원 ( Lee Ah-Won )
가톨릭대학교 의과대학 임상병리학교실
이교영 ( Lee Kyo-Young )
가톨릭대학교 의과대학 임상병리학교실
안현영 ( Ahn Hyun-Young )
가톨릭대학교 의과대학 산부인과학교실
박종섭 ( Park Jong-Sup )
가톨릭대학교 의과대학 산부인과학교실
KMID : 0357920070410010047
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.
키워드
Autopsy; Skin; Autosomal recessive
원문 및 링크아웃 정보
등재저널 정보