Scientists investigate why skin fails to heal in rare blistering disease

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.