Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation

A Diociaiuti, P D'Amico, E Pisaneschi, S Giancristoforo, M G Pappalardo, V Di Guardo, G Zambruno, M El Hachem

Research output: Contribution to journalArticlepeer-review

Abstract

Restrictive dermopathy (RD, OMIM #275210) is a rare genodermatosis, caused by ZMPSTE24 or, less frequently, LMNA mutations.1 It is characterized by an extremely poor prognosis resulting in stillbirth or early neonatal death.1,2 Clinical features comprise prematurity, intrauterine growth retardation, thin rigid skin with lacerations at flexural regions, facial dysmorphism and joint ankyloses. We report the first Italian case due to a ZMPSTE24 homozygous recurrent mutation. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalJournal of the European Academy of Dermatology and Venereology
DOIs
Publication statusE-pub ahead of print - Nov 21 2018

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