Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review

J Eur Acad Dermatol Venereol. 2020 Nov;34(11):e694-e697. doi: 10.1111/jdv.16372. Epub 2020 Jul 22.

Authors

A Diociaiuti¹, E Pisaneschi², S Rossi³, A G Condorelli⁴, C Carnevale¹, G Zambruno⁴, M El Hachem¹

Affiliations

¹ Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Medical Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁴ Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

PMID: 32176379
DOI: 10.1111/jdv.16372

No abstract available

Publication types

Letter
Review

MeSH terms

Adaptor Proteins, Signal Transducing / genetics
Epidermolysis Bullosa Simplex* / diagnosis
Epidermolysis Bullosa Simplex* / genetics
Epidermolysis Bullosa*
Humans
Infant, Newborn
Italy
Mutation
Pedigree

Substances

Adaptor Proteins, Signal Transducing
EXPH5 protein, human