Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature

Jennifer B. Scott, Arianna F. Yanes, Karina L. Vivar*, Duri Yun, Annette Wagner, Lacey Kruse, Anthony J. Mancini

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Restrictive dermopathy (RD) is a rare and lethal laminopathy caused by mutations in LMNA or ZMPSTE24. This series reports 3 patients with RD and reviews the literature of the 113 previously reported cases, including highlights of the unique constellation of clinical findings in RD, as well as histologic, radiographic, and genetic features. Early recognition of these characteristic features is vital to establish a prompt diagnosis and provide adequate family counseling for this terminal condition.

Original languageEnglish (US)
Pages (from-to)1535-1540
Number of pages6
JournalPediatric dermatology
Volume38
Issue number6
DOIs
StatePublished - Nov 1 2021

Keywords

  • ZMPSTE24
  • genodermatosis
  • pediatric dermatology
  • restrictive dermopathy
  • tight skin contracture syndrome

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Fingerprint

Dive into the research topics of 'Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature'. Together they form a unique fingerprint.

Cite this