Successful therapeutic transplantation of revertant skin in epidermolysis bullosa.
J Am Acad Dermatol
; 70(1): 98-101, 2014 Jan.
Article
in En
| MEDLINE
| ID: mdl-24176523
ABSTRACT
BACKGROUND:
Epidermolysis bullosa (EB) is a group of genetic blistering diseases. Despite many efforts, treatment for EB remains symptomatic. Revertant mosaicism, coexistence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous genetic event (revertant cells) in 1 individual, can be found in EB. The naturally corrected revertant keratinocytes provide an opportunity for autologous cell therapy.OBJECTIVE:
We sought to locally treat EB by transplantation of revertant skin.METHODS:
Persistent ulcers in a patient with non-Herlitz junctional EB caused by mutations in the LAMB3 gene were treated by transplantation of split-thickness biopsy specimens from one of his revertant patches.RESULTS:
All transplanted biopsy specimens were accepted and complete re-epithelialization occurred within 14 days. During 18 months of follow-up, the patient never experienced blisters or wounds in the grafted area, nor in the healed donor site. Immunofluorescence and DNA sequencing showed that acceptor sites healed with transplanted revertant keratinocytes.LIMITATIONS:
Punch grafting allows only limited expansion of revertant skin.CONCLUSIONS:
We demonstrate that phenotypical and genotypical correction of skin in patients with revertant mosaicism by expansion of revertant skin might be a promising therapeutic option for cutaneous manifestations of EB.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cell Adhesion Molecules
/
Epidermolysis Bullosa, Junctional
/
Skin Transplantation
/
Mosaicism
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
J Am Acad Dermatol
Year:
2014
Type:
Article