Division of Pediatric Medicine, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.
Division of Dermatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Pediatr Dermatol. 2024 Sep-Oct;41(5):942-944. doi: 10.1111/pde.15681. Epub 2024 Jul 4.
Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with biallelic ZMPSTE24 mutations to highlight the clinical and histopathological features of restrictive dermopathy and share our skin-directed management strategies.
限制型皮肤发育不良症是一种致命的常染色体隐性疾病，其特征为皮肤紧密粘连、具有独特的面部畸形、关节挛缩和肺发育不全。虽然临床表现具有独特性，但组织病理学和基因分析对于早期诊断确认和启动这种致命疾病的适当管理至关重要。我们报告了一例带有双等位基因 ZMPSTE24 突变的早产 Hutterite 男性新生儿，以强调限制型皮肤发育不良症的临床和组织病理学特征，并分享我们的皮肤导向管理策略。
