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

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.

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