Cushing's syndrome due to primary pigmented nodular adrenocortical disease with cardiac myxomas and mucocutaneous lentigines

Abstract

A young Japanese female demonstrated unusual features of Cushing's syndrome, cardiac myxomas and mucocutaneous lentigines. At the age of 12 years she presented with growth failure and obesity. The dexamethasone suppression test, the metyrapone test and low corticotropin concentrations indicated a primary adrenal disorder. At surgery, the adrenal glands were not enlarged (the right, 4.0 g; the left; 4.5 g) but had numerous small dark brown nodules. The pathological findings showed multiple small black cortical nodules containing large cells with eosinophilic cytoplasm and lipofuscin, and internodular cortical atrophy. These abnormalities were consistent with primary pigmented nodular adrenocortical disease. At age 22 years she complained of fatigue and palpitations associated with mid-chest pain. Four cardiac myxomas, suspected from the echocardiogram, were surgically removed. Because Cushing's syndrome and cardiac myxomas are life-threatening conditions, an awareness of the complex is important.

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

“…Close to 200 patients have been reported from diverse ethnic groups, since the initial description of the complex (1,16,17,64,(69)(70)(71)(72). In the late 1980's, investigators reported the presence of "adrenal-stimulating immunoglobulins" leading to corticotropin-independent adrenocortical nodular hyperplasia in affected subjects and suggested that "Carney complex was an inherited disease of immunological origin" (52,73).…”

The Variations in the Immunologic Features and Interleukin-6 Levels for the Surgical Treatment of Cardiac Myxomas

“…Carney et al 14,15 and others [16][17][18][19][20][21] have described the clinical and pathological features of a syndrome consisting of cardiac myxomas, spotty pigmentation (lentiginosis), and endocrine over activity. One of our cases, a 14-year-old female "familial myxoma" patient, demonstrated signs of cutaneous pigmentation around her lips consistent with Carney complex.…”