Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report

Endocrine overactivity, such as acromegaly and Cushing's syndrome, presented with associated endocrine tumors, including pituitary adenoma, thyroid tumors, primary pigmented nodular adrenocortical disease (PPNAD), and testicular tumors.2 Pigmented skin lesions include lentiginosis, conventional melanocytic nevus, and epithelioid blue nevus.3 Recently, a new concept of pigmented skin lesion called pigmented epithelioid melanocytoma, which has identical histological features to the epithelioid blue nevus, but lacks the associated Carney complex, was proposed.4 We present a case of Carney complex with a brief introduction to the epithelioid blue nevi and pigmented epithelioid melanocytomas.The patient was found to have a mutation in the protein kinase A type I-a regulatory subunit (PRKARIA) gene when he had the resection of his cardiac myxoma.5 The bilateral adrenalectomy specimen showed multiple dark to light brown nodules measuring up to 1.2 x 1.2 cm throughout the cortex (Fig. 1C).DISCUSSION Carney complex is an autosomal dominant clinical syndrome, and many patients show germline mutations in the PRKAR1A gene.2 In addition to the PRKAR1A mutation, some of the patients also show mutations in the PDE11A gene.6 Among the symptoms of Carney complex, cardiac myxoma is by far the most fatal, with a sudden death rate of over 10% in affected members with a familial Carney complex.7 This high mortality requires regular screening in patients with Carney complex.2 As in the current case, there can be multiple myxomas and they can be located in any heart chamber in patients with Carney complex, unlike myxomas in patients without Carney complex.2 PPNAD is unique in its clinical and histological features.