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Article

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

Pediatric dermatology - 1 Nov 2021

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

Abstract excerpt

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...

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PMID: 34647350
DOI: 10.1111/pde.14822

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