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Article

Restrictive Dermopathy in Neonates.

Indian journal of pediatrics - 1 Feb 2026

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 41455023
DOI: 10.1007/s12098-025-05923-x

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Restrictive Dermopathy in Neonates.PMID 41455023Read ↗

A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.Semantic proximity Read ↗

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.Semantic proximity Read ↗

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.Semantic proximity Read ↗

Restrictive dermopathy: report of two siblings.Semantic proximity Read ↗

Restrictive dermopathy in a Turkish newborn.Semantic proximity Read ↗

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.Semantic proximity Read ↗

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.Semantic proximity Read ↗

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.Semantic proximity Read ↗

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.Semantic proximity Read ↗

Prenatal diagnosis of restrictive dermopathy.Semantic proximity Read ↗

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.Semantic proximity Read ↗

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Semantic proximity Read ↗

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