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Case Reports in Dermatological Medicine
Volume 2016 (2016), Article ID 3793986, 4 pages
http://dx.doi.org/10.1155/2016/3793986
Case Report

A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma

University College London Hospital, 235 Euston Road, London NW1 2BU, UK

Received 10 January 2016; Revised 13 March 2016; Accepted 22 March 2016

Academic Editor: Jaime A. Tschen

Copyright © 2016 Sarah Mehrtens et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A 49-year-old lady presented with multiple recurring painful lesions over her thighs, arms, and back. Past medical history included a left sided nephrectomy for renal cell carcinoma and a hysterectomy for multiple uterine fibroids (leiomyomas). Histopathological examination revealed changes consistent with pilar leiomyomas. Gene mutation analysis confirmed a diagnosis of hereditary leiomyomatosis and renal cell carcinoma. Hereditary leiomyomatosis and renal cell carcinoma is an uncommon autosomal dominant condition characterised by the concurrent presentation of cutaneous and uterine leiomyomas. Renal cell carcinoma associated with this condition is more aggressive and a significant cause of mortality. Due to this association with potentially fatal renal cell carcinoma we felt that it was important to highlight this case with an update on pathophysiology and management.