Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment.
Adult
Anti-Inflammatory Agents, Non-Steroidal
/ pharmacology
Child
Child, Preschool
Epidermolysis Bullosa Simplex
/ drug therapy
Female
Humans
Infant
Infant, Newborn
Keratin-14
/ genetics
Keratin-5
/ genetics
Male
Middle Aged
Mutation
Pilot Projects
Retrospective Studies
Skin
/ cytology
Th17 Cells
/ drug effects
Thalidomide
/ analogs & derivatives
Treatment Outcome
Young Adult
Journal
The British journal of dermatology
ISSN: 1365-2133
Titre abrégé: Br J Dermatol
Pays: England
ID NLM: 0004041
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
accepted:
11
06
2018
pubmed:
23
6
2018
medline:
15
2
2020
entrez:
23
6
2018
Statut:
ppublish
Résumé
Epidermolysis bullosa simplex generalized severe (EBS-gen sev) is a genetic disorder caused by mutation in the KRT5 or KRT14 genes. Although it is usually considered a mechanical disease, recent data argue for additional inflammatory mechanisms. To assess the inflammation in the skin of patients with EBS-gen sev. A first immunohistochemical retrospective study was performed on frozen skin samples from 17 patients with EBS-gen sev. A second multicentre prospective study was conducted on 10 patients with severe EBS-gen sev. Blister fluid and epidermis were processed for immunochemical analysis and quantitative real-time polymerase chain reaction. Cytokine expression was analysed in blister fluid and compared with that in controls. Histological analysis showed a constant dermal perivascular CD4 Our study demonstrates the importance of inflammation in patients with EBS-gen sev and underlines the key role for T helper 17 cells in its pathogenesis. In addition, this study provides promising new therapeutic approaches for this disabling disorder.
Sections du résumé
BACKGROUND
Epidermolysis bullosa simplex generalized severe (EBS-gen sev) is a genetic disorder caused by mutation in the KRT5 or KRT14 genes. Although it is usually considered a mechanical disease, recent data argue for additional inflammatory mechanisms.
OBJECTIVES
To assess the inflammation in the skin of patients with EBS-gen sev.
METHODS
A first immunohistochemical retrospective study was performed on frozen skin samples from 17 patients with EBS-gen sev. A second multicentre prospective study was conducted on 10 patients with severe EBS-gen sev. Blister fluid and epidermis were processed for immunochemical analysis and quantitative real-time polymerase chain reaction. Cytokine expression was analysed in blister fluid and compared with that in controls.
RESULTS
Histological analysis showed a constant dermal perivascular CD4
CONCLUSIONS
Our study demonstrates the importance of inflammation in patients with EBS-gen sev and underlines the key role for T helper 17 cells in its pathogenesis. In addition, this study provides promising new therapeutic approaches for this disabling disorder.
Substances chimiques
Anti-Inflammatory Agents, Non-Steroidal
0
KRT14 protein, human
0
KRT5 protein, human
0
Keratin-14
0
Keratin-5
0
Thalidomide
4Z8R6ORS6L
apremilast
UP7QBP99PN
Types de publication
Clinical Trial
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
357-364Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2018 British Association of Dermatologists.