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<p>Restrictive dermopathy (RD) is a rare, lethal neonatal genodermatosis caused by mutations in <i>LMNA</i> or <i>ZMPSTE24</i>. It is characterized by taut, translucent skin, fixed arthrogryposis, facial dysmorphism, and early neonatal death. The authors describe three preterm neonates with features consistent with RD. Antenatally, all had polyhydramnios and reduced fetal movements; two had affected siblings. In one family, a sibling and targeted fetal testing confirmed a homozygous pathogenic <i>ZMPSTE24</i> variant; in another, the index neonate was directly confirmed to carry the same mutation previously reported in the literature. Clinically, all neonates presented with taut, translucent skin, micrognathia, blepharophimosis, prominent superficial veins, and joint contractures. Despite supportive care, survival ranged from 3 to 37 d. Genetic confirmation facilitated targeted reproductive counseling. Skin biopsy or autopsy were not performed due to parental constraints. Diagnosis of RD relies primarily on clinical phenotype, with genetic confirmation crucial for recurrence-risk assessment.</p>

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Restrictive Dermopathy in Neonates

  • 期刊论文

  • 发表日期：

    2025年12月27日

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  • Sukanya M.K,
  • Moideen Babu Perayil,
  • Nisha Mohan,
  • Shyam Kumar S

摘要

Restrictive dermopathy (RD) is a rare, lethal neonatal genodermatosis caused by mutations in LMNA or ZMPSTE24. It is characterized by taut, translucent skin, fixed arthrogryposis, facial dysmorphism, and early neonatal death. The authors describe three preterm neonates with features consistent with RD. Antenatally, all had polyhydramnios and reduced fetal movements; two had affected siblings. In one family, a sibling and targeted fetal testing confirmed a homozygous pathogenic ZMPSTE24 variant; in another, the index neonate was directly confirmed to carry the same mutation previously reported in the literature. Clinically, all neonates presented with taut, translucent skin, micrognathia, blepharophimosis, prominent superficial veins, and joint contractures. Despite supportive care, survival ranged from 3 to 37 d. Genetic confirmation facilitated targeted reproductive counseling. Skin biopsy or autopsy were not performed due to parental constraints. Diagnosis of RD relies primarily on clinical phenotype, with genetic confirmation crucial for recurrence-risk assessment.