Multiple painful skin papules, uterine leiomyomas and hysterectomy

A 38-year-old woman presented with multiple skin lesions that had begun appearing on her chest from the age of 15years, and later had started developing on her neck and face (Fig. 1). Physical examination revealed a cluster of brownish–erythematous, asymptomatic papules and nodules, 3–6mm in size. The rest of the physical examinations was unremarkable. The patient had undergone a hysterectomy at the age of 31years for uterine leiomyomas and endometriosis. Her mother and maternal grandmother also had similar skin lesions and had both undergone hysterectomy at a young age. Full blood count, liver and kidney function tests and fasting blood sugar levels were normal. Abdominal magnetic resonance imaging scan showed no signs of neoplasia. Genetic testing for fumarate hydratase gene (FH) mutation was positive. © 2023 Oxford University Press. All rights reserved.