Cutaneous papules, uterine fibroids, and renal cell cancer: one family's tale

HLRCC is the autosomal dominant predisposition to cutaneous and uterine leiomyomas and renal cell cancer.1 Germline mutations in the gene that codes for fumarate hydratase (FH), an enzyme that converts fumarate to malate in the Krebs cycle, predispose to HLRCC.2,3 Direct DNA sequencing of the FH gene revealed a novel mutation (c.1328C>A; p.A443D) in all three family members. Leiomyomas can be arranged in a linear or segmental pattern, and occur on one or both sides of the body.3 Treatment can include surgical excision, cryo therapy, electrosurgery, CO2 laser ablation, nifedipine, or gaba pentin. 4 Women with an FH germline mutation and those with clinical HLRCC have an eight-to-nine-fold increased risk of developing uterine fibroids and a five-fold increased risk of having treatment for uterine fibroids compared with women without HLRCC.5 Women with HLRCC usually report dys menorrhoea and pain.5 10-16% of individuals with HLRCC have renal cell cancer.3 The histo logical spectrum includes type 2 papillary, tubulo papillary, and collecting-duct renal cell cancers.