Laufer Christin B, Green Layne B, Whittemore Darren E
Department of Internal Medicine, Keesler Medical Center, Biloxi, MS 39534, USA.
Case Rep Med. 2013;2013:926896. doi: 10.1155/2013/926896. Epub 2013 Jul 9.
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.
里德综合征是一种遗传性癌症易患综合征，因其仅表现为压痛性红色丘疹而容易被漏诊。我们报告一名有子宫肌瘤病史的年轻女性，她因多个疼痛性粉红色丘疹就诊于皮肤科诊所，此前多名医生已对其进行过评估。活检结果诊断为皮肤平滑肌瘤，这增加了对里德综合征的临床怀疑。发现她的富马酸水合酶基因存在一种新的杂合突变，支持了该诊断。该病例表明，对看似无害的皮肤症状进行适当检查很重要，因为它们可能与潜在的恶性肿瘤有关。尽管高达16%的患者可能会发展为侵袭性2型乳头状肾细胞癌，但目前在筛查或患者管理方面尚无共识性指南。
