Major criteria |
|
Spotty skin pigmentation with typical distribution |
|
Lentigines |
70–80 |
Café-au-lait macules |
Rare |
Cutaneous and mucosal myxoma |
30–55 |
Cardiac myxoma |
20–40 |
Primary pigmented nodular adrenocortical disease (PPNAD) and/or paradoxical increase in urinary glucocorticoid excretion in response to dexamethasone administration during Liddle’s test |
25–60 |
Acromegaly due to growth hormone-producing pituitary adenoma |
10–12 |
Large-cell calcifying Sertoli cell tumor |
41–70 |
Thyroid carcinoma (papillary or follicular type) |
Up to 10 |
Psammomatous melanotic schwannomas |
Up to 10 |
Blue nevus, epithelioid blue nevus |
40 |
Breast ductal adenoma (multiple) |
14–25 |
Osteochondromyxoma |
Rare |
Supplemental criteria |
|
Affected first-degree relative |
|
Inactivating mutation of the PRKAR1A gene |
|
Activating pathogenic variants of PRKACA and PRKACB
|
|