| Literature DB >> 28400389 |
Agnieszka Adams1, Kendall Katie Sharpe2,3, Peter Peters4, Michael Freeman5.
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. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: Dermatology; Obstetrics and gynaecology; Urology
Mesh:
Substances:
Year: 2017 PMID: 28400389 PMCID: PMC5543308 DOI: 10.1136/bcr-2016-215115
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X