Version May 2024
| Major diagnostic criteria |
| Spotty skin pigmentation with typical distribution (lips, conjunctiva and inner or outer canthi, vaginal and penile mucosa) |
| Myxoma* (cutaneous and mucosal) |
| Cardiac myxoma* |
| Breast myxomatosis* or fat-suppressed MRI findings suggestive of this diagnosis |
| PPNAD* or paradoxical positive response of urinary glucocorticoid excretion to dexamethasone administration during Liddle's test |
| Acromegaly due to GH-producing adenoma* |
| LCCSCT* or characteristic calcification on testicular ultrasound |
| Thyroid carcinoma* or multiple, hypoechoic nodules on thyroid ultrasound in a young patient |
| Psammomatous melanotic schwannomas* |
| Blue nevus, epithelioid blue nevus* |
| Breast ductal adenoma* |
| Osteochondromyxoma* |
| Supplemental criteria |
| Affected first-degree relative |
| Inactivating mutation of the PRKAR1A gene |
| Findings suggestive of or possibly associated with CNC, but not diagnostic for the disease |
| Intense freckling (without darkly pigmented spots or typical distribution) |
| Blue nevus, common type (if multiple) |
| Café-au-lait spots or other "birthmarks" |
| Elevated IGF-1 levels, abnormal GTT, or paradoxical GH response to TRH testing in the absence of clinical acromegaly |
| Cardiomyopathy |
| Pilonidal sinus |
| History of Cushing's syndrome, acromegaly, or sudden death in extended family |
| Multiple skin tags or other skin lesions, lipomas |
| Colonic polyps (usually in association with acromegaly) |
| Hyperprolactinemia (usually mild and almost always combined with clinical or subclinical acromegaly) |
| Single, benign thyroid nodule in a young patient; multiple thyroid nodules in an older patient (detected on ultrasound) |
| Family history of carcinoma, in particular of the thyroid, colon, pancreas, and ovary; other multiple benign or malignant tumors |
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