Department of Pediatrics, Saint Mary's Hospital Luodong, Luodong, Yilan County, Taiwan.
Pediatr Neonatol. 2013 Jun;54(3):198-201. doi: 10.1016/j.pedneo.2012.11.012. Epub 2013 Jan 10.
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.
限制型皮肤发育不良症（RD）是一种罕见且致命的常染色体隐性遗传综合征，其特征为皮肤非常紧绷、薄且容易侵蚀，以及关节挛缩。我们呈现了一个家系中的两例同胞兄妹。病例 1 为女性新生儿，表现出轻微的 RD 特征性表现，存活了 16 天；病例 2 为男性新生儿，为死产儿，具有典型的严重 RD 特征。其皮肤活检显示出典型的组织学发现，基因研究揭示了锌金属蛋白酶 STE24（ZMPSTE24）外显子 6 上的纯合无义突变。RD 的确切发病机制仍不清楚。最近对核纤层蛋白 A 和/或 ZMPSTE24 突变的研究为 RD 的病理生理学提供了一些线索，并可能有助于指导未来治疗方法的发展。
