Department of Dermatology, Elias Emergency University Hospital, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;
Rom J Morphol Embryol. 2020 Apr-Jun;61(2):569-575. doi: 10.47162/RJME.61.2.29.
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an exceptionally rare autosomal dominant condition caused by a germline heterozygous mutation of the fumarate hydratase gene. It manifests as multiple piloleiomyomas, associated with numerous, early-onset uterine leiomyomas in female patients, as well as a highly increased risk of renal cell carcinoma (RCC), most often type 2 papillary RCC. HLRCC has been described in association with adrenal cortical hyperplasia, pheochromocytoma, adrenal cortical carcinoma, and other solid tumors, but the exact relationship between these disorders has not yet been clarified. We present a case of HLRCC associated with bilateral adrenal cortical hyperplasia and discuss the pathogenesis, clinical and paraclinical features of HLRCC, as well as the adequate management of these patients.
遗传性平滑肌瘤病和肾细胞癌综合征（HLRCC）是一种极其罕见的常染色体显性遗传疾病，由延胡索酸水合酶基因的种系杂合突变引起。它表现为多发性平滑肌瘤，伴有女性患者大量的早期子宫平滑肌瘤，以及肾细胞癌（RCC）的风险显著增加，最常见的是 2 型乳头状 RCC。HLRCC 已与肾上腺皮质增生、嗜铬细胞瘤、肾上腺皮质癌和其他实体瘤相关联，但这些疾病之间的确切关系尚未阐明。我们报告了一例与双侧肾上腺皮质增生相关的 HLRCC，并讨论了 HLRCC 的发病机制、临床和辅助检查特征，以及这些患者的适当管理。
