Carney Complex, a Familial Cushing's Syndrome due to Primary Pigmented Nodular Adrenocortical Disease: A Case Report

Carney 症候群－病例報告

辛世杰(Shih-Chieh Hsin) ； 謝明家(Ming-Chia Hsieh) ； 黃尚志(Shang-Jyh Hwang) ； 蕭璧容(Pi-Jung Hsia) ； 蔡坤寶(Kun-Bao Tsay) ； 辛錫璋(Shyi-Jang Shin)

《The Kaohsiung Journal of Medical Sciences》 18卷12期 (2002/12) Pp. 627-631

https://doi.org/10.6452/KJMS.200212.0627

摘要

本文報告一位患有高腎皮醇血症、糖尿病和高血壓的45歲女性患者。在二十年前患者因為庫欣氏症候群而作左側腎上腺切除術，於一年後，庫欣氏症候群的症狀即漸漸消失。但是相同的症狀（月亮臉、中心肥胖等）現今又再復發。至醫院求診後，再次診斷為庫欣氏症候群，且腹部經電腦斷層攝影發現右腎上腺腫瘤並實施右側腎上腺切除和切片。經病理報告發現為原發性腎上腺皮質色素結節病變(primary pigmented nodular adrenocortical disease，PPNAD)。患者以前也曾因子宮腫瘤接受子宮全切除術，病理報告為子宮黏液瘤；而右側乳房及脖子之皮膚腫瘤也接受手術切除，病理報告是乳房黏液纖維腺瘤和表皮腺瘤。除此之外，此患者尚有一位同卵雙生的雙胞胎妹妹亦罹患車欣氏症候群，在13年前接受兩側腎上腺切除。病理報告也是PPNAD；皮膚、乳房、子宮也都有腫瘤而接受手術切除，病理報告亦相同。綜合以上的臨床表徵、病理發現和家族史，皆是家族性PPNAD特徵(Carney complex)的診斷依據。

關鍵字

Carney 症候群 ； 原發性腎上腺皮質色素結節病變 ； 表皮腺瘤

並列摘要

A 45-year-old woman with adrenocorticotropin (ACTH)-independent hypercortisolism, diabetes mellitus, and hypertension had undergone left adrenalectomy for ACTH-independent Cushing’s syndrome 20 years prior to this presentation. There was cushingoid appearance 1 year after surgery. However, Cushing’s syndrome recurred; ACTH-independent Cushing’s syndrome was diagnosed and abdominal computerized tomography showed a right adrenal tumor, which was removed. Histology revealed primary pigmented nodular adrenocortical disease (PPNAD). The patient had also undergone hysterectomy for uterine masses diagnosed as uterine myxoma. Right breast and neck skin masses were also found, both of which were removed and diagnosed as mammary myxoid fibroadenoma and cutaneous myxoma. She had a homozygotic twin sister who also had Cushing’s syndrome and had undergone bilateral adrenalectomy 13 years previously with a pathologic diagnosis of PPNAD. The twin sister also had skin, breast, and uterine masses, all of which were resected. The pathologic results were the same as this patient’. According to the clinical presentations, histologic findings, and positive family history, familial PPNAD (Carney complex) was diagnosed.

並列關鍵字

Carney complex ； primary pigmented nodular adrenocortical disease ； PPNAD ； myxoma