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KMID : 0363220100480060517
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Korean Journal of Dermatology
2010 Volume.48 No. 6 p.517 ~ p.520
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A Case of Aplasia Cutis Congenita in Two Siblings
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Lim Jong-Ho
Park Hoon
Kim Jin-Wou
Yu Dong-Su
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Abstract
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Aplasia cutis congenita (ACC) is a rare congenital disorder, which was first described by Cordon in 1767. It is characterized by a defect of epidermis, dermis, subcutaneous tissues and sometimes even bone, and occurs predominantly on the scalp. Non-scalp locations are involved in 15% of all cases and are often bilaterally symmetrical. Most cases of ACC appear sporadically. Intrauterine trauma, vascular accidents or genetic factors are postulated as initial steps in the pathogenesis. However, the aetiology of this condition remains unknown. Familial cases have been reported and are suggestive of either an autosomal dominant or autosomal recessive inheritance with variable expression. We herein report on a 10-day-old female infant and her 8-year-old sister with aplasia cutis congenita on their legs. (Korean J Dermatol 2010;48(6):517∼520)
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KEYWORD
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Aplasia cutis congenita, Leg, Siblings
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