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

doi:10.1111/jdv.15351

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 journal › Article › peer-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 language	English
Journal	Journal of the European Academy of Dermatology and Venereology
DOIs	https://doi.org/10.1111/jdv.15351
Publication status	E-pub ahead of print - Nov 21 2018

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title = "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. This article is protected by copyright. All rights reserved.",

author = "A Diociaiuti and P D'Amico and E Pisaneschi and S Giancristoforo and Pappalardo, {M G} and {Di Guardo}, V and G Zambruno and {El Hachem}, M",

year = "2018",

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day = "21",

doi = "10.1111/jdv.15351",

language = "English",

journal = "Journal of the European Academy of Dermatology and Venereology",

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T1 - Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation

AU - Diociaiuti, A

AU - D'Amico, P

AU - Pisaneschi, E

AU - Giancristoforo, S

AU - Pappalardo, M G

AU - Di Guardo, V

AU - Zambruno, G

AU - El Hachem, M

PY - 2018/11/21

Y1 - 2018/11/21

N2 - 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.

AB - 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.

U2 - 10.1111/jdv.15351

DO - 10.1111/jdv.15351

M3 - Article

C2 - 30461078

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

SN - 0926-9959

ER -

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

Abstract

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