Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary features. This syndrome is rare and carries with it a significant rate of mortality. A multidisciplinary approach to care is critical in the management of these patients and their families. The dermatologist can play a central role in this process, coordinating care between specialist medical and allied health teams.
BMJ case reports. 2017 Apr 11*** epublish ***
Agnieszka Adams, Kendall Katie Sharpe, Peter Peters, Michael Freeman
Royal Australian College of General Practitioners, Graceville, Australia., Department of Otolaryngology, Sir Charles Gairdner Hospital, Nedlands, Australia ., Gold Coast University Hospital, Gold Coast, Australia., Department of Dermatology, Gold Coast Hospital and Health Service, Southport, Australia.