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Case Reports in Medicine
Volume 2013, Article ID 926896, 4 pages
Case Report

A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

1Department of Internal Medicine, Keesler Medical Center, Biloxi, MS 39534, USA
2Department of Dermatology, San Antonio Uniformed Services Health Education Consortium (SAUSHEC), San Antonio, TX 78236, USA
3Department of Dermatopathology, San Antonio Uniformed Services Health Education Consortium (SAUSHEC), San Antonio, TX 78236, USA

Received 19 April 2013; Accepted 17 June 2013

Academic Editor: André Mégarbané

Copyright © 2013 Christin B. Laufer 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.


Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.