Tricò Domenico, Battaglia Eliana, Bernini Giampaolo
Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06519; and.
Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
J Endocr Soc. 2017 Jan 12;1(1):51-56. doi: 10.1210/js.2016-1018. eCollection 2017 Jan 1.
Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands.
We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Given that endocrine diseases are common causes of secondary arterial hypertension and are often associated with Maffucci syndrome, a comprehensive diagnostic workup was performed, revealing the presence of large bilateral adrenal masses (70 mm right, 35 mm left) and autonomous cortisol secretion (adrenocorticotropic hormone-independent Cushing syndrome). The patient underwent a bilateral adrenalectomy, and steroid replacement therapy was initiated. Surgery resulted in a normalization of arterial blood pressure, and antihypertensive treatment was discontinued. Histological examinations revealed morphological features of primary bilateral macronodular adrenal hyperplasia.
Early recognition and lifelong monitoring of Maffucci syndrome is required to identify and treat possible associated endocrine diseases and malignancies. Among them, unilateral cortical adrenal masses have been previously described, but to our knowledge, this is the first reported case of Maffucci syndrome associated with primary bilateral macronodular adrenal hyperplasia. Additional studies are needed to establish the etiopathological link between these 2 entities and, more in general, between Maffucci syndrome and endocrine diseases, but possible common genetic alterations may be suggested.
马富西综合征是一种罕见的、非遗传性的中胚层发育异常疾病，其特征为存在多发性血管瘤和内生软骨瘤。这种病理状况常常未被识别，与涉及垂体、肾上腺、甲状腺和甲状旁腺的良性和恶性内分泌肿瘤的高患病率相关。
我们描述了一名年轻患者的病例，该患者有提示继发性动脉高血压的病史以及马富西综合征的典型特征（多发性血管瘤和内生软骨瘤），在过去30年中一直未被识别。鉴于内分泌疾病是继发性动脉高血压的常见原因且常与马富西综合征相关，我们进行了全面的诊断检查，发现双侧肾上腺有大肿块（右侧70毫米，左侧35毫米）以及自主皮质醇分泌（促肾上腺皮质激素非依赖性库欣综合征）。该患者接受了双侧肾上腺切除术，并开始了类固醇替代治疗。手术使动脉血压恢复正常，降压治疗得以停止。组织学检查显示为原发性双侧大结节性肾上腺增生的形态学特征。
需要对马富西综合征进行早期识别和终身监测，以识别和治疗可能相关的内分泌疾病和恶性肿瘤。其中，此前已描述过单侧肾上腺皮质肿块，但据我们所知，这是首例报道的与原发性双侧大结节性肾上腺增生相关的马富西综合征病例。需要进一步研究以确定这两种疾病之间的病因病理联系，更广泛地说，确定马富西综合征与内分泌疾病之间的病因病理联系，但可能提示存在共同的基因改变。
