Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Inclusion Criteria:
- Confirmed molecular diagnosis of recessive dystrophic epidermolysis bullosa,
established for both alleles;
- Non severe generalized clinical form of RDEB;
- Presence of type VII collagen on skin biopsy and/or western-blot analysis detected
with a set of specific antibodies;
- Presence of intact skin areas without blisters, infection or erosion;
- Absence of hospitalization related to EB condition;
- Patients and their parents when applicable should be able and willing to return for
follow up;
- Patients should be able and willing to give signed informed consent. For patients who
are minor, informed consent will be signed by a legally authorized representative, as
well as an assent form by the minor patient.
- Ability to undergo local anesthesia.
Exclusion Criteria:
- Severity of disease and presence of ill-prognostic features:
1. Premature termination codon in the noncollagenous (NC1) domain of COL7A1 on both
alleles;
2. Absence of detectable type VII collagen expression on skin biopsy and Western
blot analysis from cultured cells;
- Underlying conditions, diseases or active infections likely to increase the risk of
complications or to interfere with the biological investigations:
1. History of current or previous skin cancer (Squamous cell carcinoma or other
malignant skin cancer);
2. Current infectious diseases, including systemic infections and known positive
HIV serology (Kaposi's sarcoma), hepatitis B and C;
3. History of current psychological or psychiatric disease;
4. Absence of an adequate familial and social support;
5. History of current or previous organ diabetes mellitus;
6. Non corrected severe anemia (Hemoglobin level: < 8 g/ml);
7. Non corrected iron deficiency;
8. History of significant allergy to an anaesthetic procedure
9. Patient currently receiving anticoagulant or anti-aggregation treatment;
10. Participation in another clinical trial or therapy protocol for RDEB at the
time of study inclusion
11. Positive pregnancy urinary test or lactating women
- Not affiliated to the national social security/health service beneficiary and
families with beneficiary children.