Carney syndrome is an autosomal dominant disorder involving a mutated protein kinase (PRKAR1A) that acts on a tumor suppressor gene on chromosome 17q22-24.
Cardiac myxomas are present in 65% of patients and are often multiple and the most serious component of the disorder, causing death in 20% of patients.
25% of women with the syndrome have breast myxomas .
Carney syndrome is associated with endocrine tumors involving the adrenal gland, pituitary, and testis.
Both Sertoli cell tumors and steroid- type tumors, including Leydig cell tumors , occur in the testis.
An uncommon schwannoma variant , psammomatous melanotic, is seen in the disorder.
Carney syndrome is associated with skin pathology including myxomas and lentiginous and blue nevi, not spitz nevi.