Table 1: Diagnostic criteria for carney complex [modified from Correa R, et al. [12].

Major diagnostic criteria for CNC

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

 

Breast myxomatosis* or fat-suppressed magnetic resonance findings suggestive of this diagnosis

 

Primary pigmented nodular adrenocortical disease* or paradoxical positive response of urinary glucocorticosteroid excretion to dexamethasone administration during Liddle's test

 

Acromegaly as a result of a growth hormone (GH)-producing adenoma*

 

*Histological confirmation is required for these findings

Large-cell calcifying Sertoli cell tumor (LCCSCT)

Myxoma* (cutaneous and mucosal)

Cardiac myxoma*

 

Thyroid carcinoma* or multiple, hypoechoic nodules on thyroid ultrasound in a child younger than 18 years

 

LCCSCT* or characteristic calcification on testicular ultrasound

 

Psammomatous melanotic schwannomas (PMS)*

 

Blue nevus, epithelioid blue nevus*

 

Breast ductal adenoma*

 

Osteochondromyxoma*

Supplementary criteria

Affected first-degree relative

Inactivating pathogenic variant in PRKAR1A