Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra

Abstract

A 27-year-old woman with junctional epidermolysis bullosa (EB) presented with primary amenorrhoea and massive haematometra. Considering her severe physical handicap and anticipated problems in optimising menstrual hygiene, the patient and her parents opted for hysterectomy which was performed uneventfully. The patient was recovering well postoperatively until the eighth postoperative day when she developed acute dilation of stomach and unfortunately died on day 17.

Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus‐based guideline*

“…R1 ↑↑ Discuss and evaluate vulvovaginal manifestations of EB, where appropriate and dependent on EB subtype, as part of routine care. 14 , 15 , 16 For women with severe vaginal stenosis and dyspareunia, consider referral to an assisted conception unit.…”