ArticleOrphanet journal of rare diseases2025
Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundDystrophic epidermolysis bullosa (DEB) is a rare group of genetic skin-fragility conditions resulting in blisters and erosions of the skin and mucosa, evolving into dystrophic and retractile scars. This study objective is to describe the genital involvement in women with DEB and their gynaeco-obstetrical life.
resultsIn this prospective two-centre study, data from women with DEB who were older than 18 years was gathered into a questionnaire by the dermatologist and/or gynaecologist investigators. This data was collected from patients' medical records with regard to menstrual cycles, contraception methods, the obstetrical history, screening for gynaecological cancers and sexually transmitted diseases, and the sexual life. Vulvar examinations were carried out as part of the usual follow-up. In total, 27 women (median age 35 years; range 19 to 72) were recruited and their data included in the study between January and December 2021. The gynaecological follow-up was reported as regular for 14 of the 27 (52%) women; 16/27 (59%) mentioned menstruating; 13/24 (51%) had already had at least one contraceptive treatment; 17/27 (63%) declared they had sexual intercourse at least once, most often with difficulties; and 10/27 (37%) had full-term pregnancies, with 1 to 4 children per woman (i.e., 21 deliveries: 8 caesarean sections and 13 vaginal deliveries). Eleven of the 21 women who had a vulvar examination during follow-up had a lesion at the time of the exam. According to French recommendations, the rate of screening for sexually transmitted diseases (STDs), cervical cancer, and breast cancer was 18% (all over 25 years old), 70%, and 100%, respectively.
conclusionAs for all patients, women with DEB need gynaecological follow-up during their life. A sexology consultation is also highly recommended to help with the psychosexual aspect of DEB and to inform patients about specific preventive measures to avoid lesions during the sexual act, for contraception and for STDs screening. Pregnancies and deliveries are possible even in women with severe disease, most often without major complications.
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