Abstract：
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.
摘要：
限制性皮肤病是一种致命的常染色体隐性疾病，其特征是皮肤紧密粘附，独特的面部畸形，关节病，肺发育不全.虽然临床发现是独特的，组织病理学和遗传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.我们报告了患有双等位基因ZMPSTE24突变的早产Hutterite男性新生儿，以突出限制性皮肤病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。
