Recessive Dystrophic Epidermolysis Bullosa
Conditions
Brief summary
Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disease characterized by cutaneous and mucosa fragility. Blister formations and erosions, resulting in chronic wounds and dystrophic scars, lead development of aggressive cutaneous squamous cell carcinoma (cSCC) in young subjects. cSCC in RDEB patients are often recurrent and sometimes aggressive. Although fibrotic and inflammatory microenvironment plays an important role in the tumoral process, specific mechanisms in cSCC of RDEB patients are still unknown. Actually, the only treatment is a wide surgical excision with poor prognostic (80% of death after the first occurrence of cSCC). The objective of the study is to describe the molecular signatures in the cSCC in RDEB patients
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Inclusion criteria
* for RDEB patients with a SCC : 1. aged older than 18 years old 2. one or more SCC surgically treated 3. signed genetic consent form * for non-RDEB patients with a SCC induced by ultraviolet radiation : 1. aged older than 18 years old 2. one or more SCC induced by ultraviolet radiation 3. signed genetic consent form
Exclusion criteria
* under protection by law (tutorship or curatorship) * without health insurance coverage
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients | at inclusion | Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of molecular signature according to the aggressive evolution | at inclusion | Molecular signatures will be assessed by genomic, transcriptomic, proteomic analyses and will be compared between RDEB patients with different clinical outcomes (cSCC with an aggressive and metastatic evolution versus cSCC without aggressive evolution at 3 months). |
| Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation) | at inclusion | Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses and will be compared between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation) |
Contacts
Primary ContactEmmanuel BOURRAT, Dr
Backup ContactMatthieu Resche-Rigon, Pr
Outcome results
None listed