Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Σάββατο 24 Νοεμβρίου 2018

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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