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Dystrophic epidermolysis bullosa is a rare genetic pathology resulting in fragility of the skin and mucous membranes, causing bubbles and wounds following trauma. Scarring is pathological with a tendency to retraction. The gynecological and in particular the vulvovaginal mucous membranes can be affected but no description of any series is available in the literature. Likewise, some of these patients have a sexual and obstetrical life, despite sometimes-severe damage, but again no specific data is available. The investitigator thus wish to carry out a non-interventional multicenter prospective descriptive study. Better knowledge of gynecological semiology in patients with EBD will allow better adaptation of gynecological follow-up, screening for STDs and gynecological cancers, as well as possible specific complications. This study would eventually allow the draw up of recommendations for our gynecologist / obstetrician colleagues.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| EDB | Adult women (> 18 years old) with hereditary dystrophic epidermolysis bullosa (dominant or recessive) followed at the Nice University Hospital or at the St Louis Hospital of the APHP |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Decriptive study of EDB | Other | data on EDB will be register |
|
| Measure | Description | Time Frame |
|---|---|---|
| Descriptve evaluation of the recruited population | Adult women (> 18 years old) with hereditary dystrophic epidermolysis bullosa (dominant or recessive) followed at the Nice University Hospital or at the St Louis Hospital of the APHP. Descriptve evaluation of the recruited population Description of the anatomical and gynecological functional impairment of adult women with dystrophic epidermolysis bullosa. | 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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Adult women (> 18 years old) with hereditary dystrophic epidermolysis bullosa (dominant or recessive) followed at the Nice University Hospital or at the St Louis Hospital of the APHP.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de NICE | Nice | 06200 | France | |||
| Hôpital Saint Louis |
no data sharing plan is schedule
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| ID | Term |
|---|---|
| D016108 | Epidermolysis Bullosa Dystrophica |
| ID | Term |
|---|---|
| D004820 | Epidermolysis Bullosa |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| Paris |
| 75010 |
| France |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |
| D012872 | Skin Diseases, Vesiculobullous |