Overview
Patients with recessive dystrophic epidermolysis bullosa (RDEB) suffer from acute and chronic post-bullous wounds along with impaired skin healing. These issues are attributed not only to mucocutaneous fragility and abnormal healing directly related to quantitative and/or qualitative constitutional abnormalities of collagen VII but also to a contingent cutaneous and systemic inflammatory component. This inflammatory aspect contributes to the perpetuation of skin lesions and delayed healing. Our primary objective is to define the systemic immunological/inflammatory signature of patients with RDEB with an aim to develop a strategy that involves using stem cells with high immunomodulatory/anti-inflammatory capacity such as allogeneic placental stem cells (WJ-MSCs and trophoblasts).
Eligibility
Inclusion Criteria:
EBDR patients :
- Patients aged 18 to 80 years old
- Clinically, histologically, and/or genetically confirmed intermediate, reversed or generalized, moderate to severe EBDR
Healthy controls :
- Adults aged 18 to 80 years old
- PBMC healthy donors: subjects who have donated blood to the EFS according to the indication criteria who have consented to the use of their samples for research purposes.
- Healthy skin biopsy donors: subjects undergoing abdominoplasty scheduled in plastic surgery and who have given their consent for the collection of a skin biopsy from post-operative abdominoplasty skin remnants.
- Healthy donors of bandages soiled with exudates from cutaneous wounds: subject consulting a plastic surgery department as part of their usual post-operative follow-up, who have given their consent for the collection of one of their dressings during their usual during their usual renewal.
For all subjects :
- Free, informed, written consent, signed by the person and the investigator no later than the day of inclusion and before any examination carried out as part of the study.
- Person affiliated or benefiting from a social security scheme
Exclusion Criteria:
EBDR patients :
- EBH with no definite diagnosis or other than EBDR intermediate, reversed or generalized
- Systemic anti-inflammatory or immunosuppressive therapy for less than one month
- Refusal of skin biopsy
Healthy controls :
- Acute or chronic systemic or cutaneous inflammatory disease at the time of sampling
- Current immunosuppressive anti-inflammatory treatment in the month prior to sampling
For all subjects:
- Persons under guardianship or curatorship, or deprived of their liberty by judicial or administrative decision
- Patients receiving State Medical Aid
- Pregnant or breast-feeding women