an autosomal dominant multiple endocrine neoplasia syndrome characterized by dermatologic and mucosal lentiginosis, atrial myxomas of the heart, primary Cushing syndrome, and acromegaly. A subgroup of patients have abnormalities of an adenylyl cyclase A subunit.
Synonym(s): Carney syndrome
[J.A. Carney, 20th-century U.S. physician]
Carney syndromeAn autosomal dominant multiple neoplasia and lentiginosis syndrome, first described as the association of:
(1) primary pigmented nodular adrenocortical disease (PPNAD), a pituitary-independent, primary form of hyperadrenocortisolism;
(2) lentigines, freckles, and blue nevi of skin and mucosae; and
(3) nonendocrine and endocrine tumours, including myxomas of skin, heart, breast, and other sites; tumours of thyroid, ductal adenoma of breast; psammomatous melanotic schwannoma; growth hormone-producing pituitary adenoma; testicular Sertoli-cell tumour; and acromegaly due to somatomammotroph hyperplasia and growth hormone-releasing, hormone-independent adenoma.
Most cases (70%) of Carney syndrome are due to an inactivating mutation in PRKAR1A on chromosome 17q23-q24, which is thought to encode a tumour-suppressor gene.
Carney complex (≥ 3 of the following)
Mammary myxoid fibroma
Spotty mucocutaneous pigmentation
Lentigines—blue, junctional or compound nevi
Primary pigmented nodular adrenocortical disease
Testicular tumour—large cell calcifying Sertoli cell tumours, often bilateral/multicentric
Pituitary hGH-secreting tumour—acromegaly or gigantism