title: Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach.
abstract: 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.
authors.affiliation: Royal Australian College of General Practitioners, Graceville, Australia.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Adams
authors.affiliation: Department of Otolaryngology, Sir Charles Gairdner Hospital, Nedlands, Australia kendycakes@hotmail.com.|Department of Medical Education, Gold Coast Hospital and Health Service, Southport, Australia.
authors.forename: Kendall Katie
authors.initials: KK
authors.lastname: Sharpe
authors.affiliation: Gold Coast University Hospital, Gold Coast, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: Peters
authors.affiliation: Department of Dermatology, Gold Coast Hospital and Health Service, Southport, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Freeman
mesh_terms: D000328:Adult; D019468:Disease Management; D005649:Fumarate Hydratase / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D018231:Leiomyomatosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D008297:Male; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D012878:Skin Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D014594:Uterine Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery
chemical_list: D005649:Fumarate Hydratase
keywords: Dermatology; Obstetrics and gynaecology; Urology