title: Restrictive dermopathy: report of two siblings.
abstract: 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.
authors.affiliation: Department of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, Taiwan.
authors.forename: Chih-Sheng
authors.initials: CS
authors.lastname: Lu
authors.forename: Shu-Chuan
authors.initials: SC
authors.lastname: Wu
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chu
authors.forename: Lo-Lin
authors.initials: LL
authors.lastname: Tseng
authors.forename: Hung-Chi
authors.initials: HC
authors.lastname: Lue
mesh_terms: D003286:Contracture / Q000235:genetics* / Q000151:congenital; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics; D009154:Mutation; D035781:Siblings; D012868:Skin Abnormalities / Q000235:genetics*
chemical_list: D034904:Lamin Type A; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human