THE COMPLEX OF MYXOMAS, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY
THE COMPLEX OF MYXOMAS, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY
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DOI：
10.1097/00005792-198507000-00007
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发表时间：
1985-01-01
期刊：
影响因子：
1.6
通讯作者：
GO, VLW
中科院分区：
文献类型：
--
作者：
CARNEY, JA;GORDON, H;GO, VLW
1984年，我们报道了4例马约诊所的库欣综合征患者和一种罕见的双侧肾上腺疾病，我们将其描述性命名为“原发性色素结节性肾上腺皮质疾病”（31）。文献检索发现了24例类似病例，其中3例为家族性疾病。在Schweizer-Cagianut等人于1980年首次报道的一个家系中，两个兄弟姐妹都感染了一个兄弟姐妹也有眼睑“纤维瘤”，在肾上腺切除术后4年出现偏瘫;另一个被认为是因为皮肤“纤维瘤”而患有神经纤维瘤病。第三个兄弟姐妹没有肾上腺疾病，但在5岁时死于心脏粘液瘤（29）。我们惊讶于两种非常罕见的情况原发性色素性结节性肾上腺皮质疾病和心脏粘液瘤发生在同一个家庭。此外，患有心脏粘液瘤的患者非常年轻，而马约诊所的经验中心脏粘液瘤的平均年龄为51岁（4）。这两种疾病之间是否存在致病联系？然而，马约诊所的4例特殊肾上腺疾病患者均无心脏粘液瘤的症状或体征，文献中确定的24例原发性色素性结节性肾上腺皮质疾病患者也未报告心脏粘液瘤。为了证实这两种情况不相关，我们回顾了马约诊所患者的记录，这些患者在手术切除或尸检后病理证实为心脏粘液瘤。在马约诊所的51例肿瘤手术患者中没有发生库欣综合征。但在尸检发现心脏粘液瘤的29例患者中，有1例具有特征性肾上腺病变，
In 1984, we reported four Mayo Clinic patients with Cushing syndrome and an unusual bilateral adrenal disorder to which we gave the descriptive title “primary pigmented nodular adrenocortical disease”(31). A search of the literature had revealed 24 similar cases; in 3 of these, the disorder was familial. In one family, initially reported in 1980 by Schweizer-Cagianut et al., two siblings were af-fected: one sibling, who also had an eyelid “fibroma,” became hemiparetic 4 years after adrenalectomy; the other was thought to have neurofibro-matosis because of skin “fibromas.” A third sibling did not have the adrenal disorder but died at age 5 years of a cardiac myxoma (29). We were struck by the occurrence of two very rare conditions–primary pigmented nodular adrenocortical disease and cardiac myxoma–in the same family. Moreover, the patient who had the cardiac myxoma was very young, whereas the mean age at presentation with cardiac myxoma in the Mayo Clinic experience is 51 years (4). Might there be a pathogenic connection between the two disorders? None of the 4 Mayo Clinic patients with the peculiar adrenal condition, however, had symptoms or signs of cardiac myxoma, nor was cardiac myxoma reported in the 24 patients with primary pigmented nodular adrenocortical disease who were identified from the literature. To be satisfied that these two conditions were not related, we reviewed records of Mayo Clinic patients in whom cardiac myxoma had been con-firmed pathologically either after surgical removal or at autopsy. The Cushing syndrome had not oc-curred in the 51 Mayo Clinic patients who had been operated on for the tumor. But among the 29 pa-tients in whom a cardiac myxoma was found at autopsy, one had the characteristic adrenal pathol-