Primary pigmented nodular adrenocortical disease and its associated conditions

Primary pigmented nodular adrenocortical disease, a rare pituitary-independent, adrenal-dependent cause of the Cushing syndrome, is characterized by: (1) hypercortisolism resistant to suppression by dexamethasone or stimulation by metyrapone or corticotropin-releasing hormone; (2) variable findings on computed adrenal imaging and negative results on com-puted pituitary imaging; (3) adrenal glands that are small to normal in size and have multiple black and brown nodules and internodular cortical atrophy; and (4) cure with bilateral adrenalectomy (the Nelson syndrome does not occur). Among 88 cases of the disorder, half are not familial and are not associated with other conditions; the remainder are familial (transmitted as a mendelian dominant trait) and commonly associated with unusual conditions such as myxomas (cardiac, cutaneous, and mammary), spotty skin pigmentation (lentigines and blue nevi), endocrine overactivity (sexual precocity and acromegaly or gigantism), and schwannomas. These conditions constitute a specific syndrome (the Carney complex). Among 40 patients with this syndrome, the distribution of lesions was: cardiac myxoma, 72%; cutaneous myxoma, 45%; mammary myxoma, 42% of female patients; spotty skin pigmentation, 65%; Cushing syndrome, 45%; sexual precocity, 25% of male patients; acromegaly, 10%; and schwannomas, 5%. Recognition of primary pigmented nodular adrenocortical disease is important because it indicates the need to investigate the patient and the primary relatives for the components of the Carney complex, especially cardiac myxoma.