Carney Complex Diagnostic Criteria

Primary Cutaneous Features

The hallmark skin manifestations of Carney Complex are spotty brown-to-black lentigines on the lips, conjunctiva, inner/outer canthi, and vaginal or penile mucosa, along with multiple blue nevi and cutaneous/mucosal myxomas 1, 2
Lentigines appear as pale brown to black spotty pigmentation, characteristically distributed on the lips, conjunctiva, inner and outer canthi, and genital mucosa (vaginal or penile) 1, 2, 3
Blue nevi, including the epithelioid blue nevus subtype, occur as multiple lesions and represent a major diagnostic criterion 1, 2
Cutaneous and mucosal myxomas present as soft tissue tumors that can occur on skin and mucous membranes 1, 2

When evaluating suspected Carney Complex, systematically assess for spotty pigmentation on lips, conjunctiva, canthi, or genital mucosa (present in majority of cases) 1
Multiple blue nevi anywhere on the body should be assessed 1, 2
Cutaneous myxomas on examination should be evaluated 1
Associated endocrine features, including cushingoid appearance or acromegalic features, should be considered 1, 4

Refer for genetic consultation when spotty skin pigmentation is present PLUS one additional Carney complex criterion 1, 5, 6
Refer for genetic consultation when cutaneous or mucosal myxoma is present PLUS one additional criterion 5, 6
Refer for genetic consultation when epithelioid blue nevus is present PLUS one additional criterion 5, 6
The American College of Medical Genetics and Genomics guidelines specify that PRKAR1A mutations are found in 71% of individuals with at least two major diagnostic criteria, making genetic testing highly informative in confirmed cases 1, 2

Do not dismiss lentigines as benign freckles without considering the distribution pattern—Carney complex lentigines characteristically involve mucosal surfaces (lips, conjunctiva, genital mucosa) 1
Do not assume isolated skin findings exclude the diagnosis—at least 50% of individuals with isolated primary pigmented nodular adrenocortical disease (Cushing's syndrome) have PRKAR1A mutations and may develop other manifestations later 1, 2