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

J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e139-e140. doi: 10.1111/jdv.15351. Epub 2018 Dec 7.

Authors

A Diociaiuti¹, P D'Amico², E Pisaneschi³, S Giancristoforo¹, M G Pappalardo², V Di Guardo², G Zambruno⁴, M El Hachem¹

Affiliations

¹ Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Neonatology and NICU, Cannizzaro Hospital, Catania, Italy.
³ Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁴ Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.

PMID: 30461078
DOI: 10.1111/jdv.15351

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Contracture / congenital*
Contracture / diagnosis
Contracture / genetics
Fatal Outcome
Female
Genetic Testing
Homozygote
Humans
Infant, Newborn
Italy
Membrane Proteins / genetics*
Metalloendopeptidases / genetics*
Mutation
Premature Birth
Skin Abnormalities / diagnosis*
Skin Abnormalities / genetics*
Telemedicine

Substances

Membrane Proteins
Metalloendopeptidases
ZMPSTE24 protein, human

Supplementary concepts

Tight skin contracture syndrome, lethal