Table 2 Diagnostic criteria of CNC

Major criteria

(1) Spotty skin pigmentation with a typical distribution (lips, conjunctiva and inner or outer canthi, vaginal and penile mucosa);

(2) Myxoma (cutaneous and mucosal);

(3) Cardiac myxoma;

(4) Breast myxomatosis or fat-suppressed MRI findings suggestive of this diagnosis;

(5) PPNAD or paradoxical positive response of urinary glucocorticosteroids to dexamethasone administration during Liddle’s test;

(6) Acromegaly due to GH-producing adenoma;

(7) Large cell-calcifying sertoli cell tumors (LCCSCT) or characteristic calcification on testicular ultrasonography, in a young patient;

(8) Thyroid carcinoma or multiple hypoechoic nodules on thyroid ultrasonography;

(9) Psammomatous melanotic schwannoma;

(10) Blue nevus, epithelioid blue nevus (multiple);

(11) Breast ductal adenoma (multiple);

(12) Osteochondromyxoma of bone

Supplementary criteria

(1) Affected first-degree relatives;

(2) Inactivating mutation of the PRKAR1A gene