Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review

J Eur Acad Dermatol Venereol. 2018 Apr;32(4):e149-e151. doi: 10.1111/jdv.14639. Epub 2017 Oct 29.

Authors

A Diociaiuti¹, D Castiglia², M Naim³, A G Condorelli⁴, G Zambruno⁴, M El Hachem¹

Affiliations

¹ Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
³ Dermatology Section, Shifa Hospital, Gaza, State of Palestine.
⁴ Genetic and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

PMID: 29024068
DOI: 10.1111/jdv.14639

No abstract available

Publication types

Case Reports
Letter
Review

MeSH terms

Adolescent
Adult
Arabs / genetics
Epidermolysis Bullosa Simplex / genetics*
Female
Humans
Keratin-14 / genetics*
Male
Mutation*
Pedigree
Young Adult

Substances

KRT14 protein, human
Keratin-14

Supplementary concepts

Epidermolysis Bullosa Simplex, Autosomal Recessive