Hereditary leiomyomatosis and renal cell cancer linked with FH mutations

The diagnosis of hereditary leiomyomatosis and renal cell cancer was revolutionized over 20years ago by the establishment of links between fumarate hydratase mutations and the syndrome of cutaneous and uterine leiomyomata, with a risk of potentially fatal renal cell carcinoma. Dermatologists can help with the initial clinical diagnosis and a skin biopsy, as well as long-term clinical screening for leiomyosarcoma.