Carney Complex Diagnostic Criteria

Established Features

• The American College of Medical Genetics and Genomics guidelines define the diagnostic criteria for Carney complex, which include cutaneous findings, cardiac manifestations, bone lesions, endocrine tumors, and breast lesions 1, 2
• Cutaneous findings in Carney complex include spotty brown-to-black lentigines on lips, conjunctiva, canthi, and genital mucosa; multiple blue nevi; and cutaneous and mucosal myxomas 1, 2
• Cardiac manifestations of Carney complex include cardiac myxomas 1, 2
• Bone lesions in Carney complex include osteochondromyxomas 1, 2
• Endocrine tumors associated with Carney complex include primary pigmented nodular adrenocortical disease, growth hormone-producing pituitary adenomas, and thyroid tumors 1, 2
• Breast lesions in Carney complex include myxomatosis and multiple ductal adenomas 1, 2

Clinical Evaluation

• When evaluating a patient for Carney complex, systematically assess for mucosal pigmentation patterns, multiple blue nevi, myxomas, and endocrine features 3
• The American College of Medical Genetics and Genomics recommends genetic referral for Carney complex when spotty skin pigmentation, cutaneous/mucosal myxoma, or epithelioid blue nevus is present PLUS one additional Carney complex criterion 1, 2, 3