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Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature
Jennifer B Scott1, Arianna F Yanes2, Karina L Vivar1,3,4
1Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
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.
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