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Multicenter Study
. 2025 Mar 21;20(1):140.
doi: 10.1186/s13023-024-03434-0.

Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study

M Fournier #  1 , E Bourrat #  1 , J Rapp #  2 , D Vexiau #  1 , C Trastour #  3 , C Chiaverini #  4
Affiliations
Multicenter Study

Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study

M Fournier et al. Orphanet J Rare Dis. .

Abstract

Background: Dystrophic 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.

Results: In 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.

Conclusion: As 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.

Keywords: Breast cancer; Cervical cancer; Contraception; Epidermolysis bullosa; Gynecology; Obstetrics; Sexually transmitted diseases.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study was conducted in accordance with the Declaration of Helsinki. All participants were verbally informed of the study, the study’s information note was given to them; All participants gave their informed consent before their data was included in the study; these actions are also filled in each participant’s medical record. This study on medical records data has been approved and registered (reference R04-049) by the Nice University Hospital Data Protection Officer in the data treatments registry under the declaration of conformity to the CNIL (the French Commission protecting the public’s privacy) reference methodology MR004. This protocol was registered at ClinicalTrials.gov (no. NCT04757727). Consent for publication: The patients whose photos are published have given their written informed consent for publication. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Blistering, pigmentation and chronic peri-anal erosion in a patient followed for dystrophic epidermolysis bullosa, a severe form
Fig. 2
Fig. 2
Sores, erosion and vulvar dystrophy in a patient followed for dystrophic epidermolysis bullosa, an inversa form
Fig. 3
Fig. 3
Blistering, erythema, erosions, desquamation and vulvar atrophy, in a patient followed for dystrophic epidermolysis bullosa
See this image and copyright information in PMC

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