https://scholars.lib.ntu.edu.tw/handle/123456789/381255
標題: | Restrictive dermopathy: Report of two siblings | 作者: | HUNG-CHI LUE | 關鍵字: | congenital anomaly; genetic analysis; restrictive dermopathy; ZMPSTE24 gene | 公開日期: | 2013 | 卷: | 54 | 期: | 3 | 起(迄)頁: | 198-201 | 來源出版物: | Pediatrics and Neonatology | 摘要: | Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD. His skin biopsy showed typical histological findings, and genetic study revealed a homozygous nonsense mutation on the exon 6 of zinc metalloproteinase STE24 (ZMPSTE24). The exact pathogenic mechanism of RD remains poorly understood. The most recent studies on mutations in lamin A and/or ZMPSTE24 have shed some light on the pathophysiology of RD and may help direct the development of future therapeutic approaches. Copyright ? 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved. |
URI: | http://www.scopus.com/inward/record.url?eid=2-s2.0-84877875734&partnerID=MN8TOARS http://scholars.lib.ntu.edu.tw/handle/123456789/381255 |
DOI: | 10.1016/j.pedneo.2012.11.012 | SDG/關鍵字: | hydrocortisone acetate; metalloproteinase; petrolatum; zinc; anemia; article; atelectasis; bradycardia; breech presentation; case report; cesarean section; child hospitalization; clavicle; clinical feature; congenital malformation; contracture; cyanosis; disseminated intravascular clotting; ectropion; esophagus hemorrhage; exon; eyebrow; eyelash; female; fetus distress; genetic analysis; heterozygote; histopathology; homozygote; human; human tissue; hyperkeratosis; hypoplasia; inguinal region; karyotype 46,XX; karyotype 46,XY; laceration; low set ear; lung congestion; male; metabolic acidosis; micrognathia; newborn; newborn intensive care; nonsense mutation; patent ductus arteriosus; patent foramen ovale; pathogenicity; radiodiagnosis; respiratory distress syndrome; restrictive dermopathy; sibling; skin biopsy; skin care; skin defect; skin disease; stillbirth; stop codon; subarachnoid space; wound dehiscence; Contracture; Female; Humans; Infant, Newborn; Lamin Type A; Male; Membrane Proteins; Metalloendopeptidases; Mutation; Siblings; Skin Abnormalities |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。