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

doi:10.1111/pde.14822

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

2 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 language	English (US)
Pages (from-to)	1535-1540
Number of pages	6
Journal	Pediatric dermatology
Volume	38
Issue number	6
DOIs	https://doi.org/10.1111/pde.14822
State	Published - Nov 1 2021

Keywords

ZMPSTE24
genodermatosis
pediatric dermatology
restrictive dermopathy
tight skin contracture syndrome

ASJC Scopus subject areas

Dermatology
Pediatrics, Perinatology, and Child Health

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10.1111/pde.14822

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title = "Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature",

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.",

keywords = "ZMPSTE24, genodermatosis, pediatric dermatology, restrictive dermopathy, tight skin contracture syndrome",

author = "Scott, {Jennifer B.} and Yanes, {Arianna F.} and Vivar, {Karina L.} and Duri Yun and Annette Wagner and Lacey Kruse and Mancini, {Anthony J.}",

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AU - Yanes, Arianna F.

AU - Vivar, Karina L.

AU - Yun, Duri

AU - Wagner, Annette

AU - Kruse, Lacey

AU - Mancini, Anthony J.

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AB - 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.

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KW - genodermatosis

KW - pediatric dermatology

KW - restrictive dermopathy

KW - tight skin contracture syndrome

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

Abstract

Keywords

ASJC Scopus subject areas

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