Carney complex


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Car·ney com·plex

(kahr'nē),
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 syndrome

An 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.

Molecular pathology
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)
Cardiac myxoma
Cutaneous myxoma
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

Carney,

John A., Irish-born U.S. pathologist, 1934–.
Carney complex - autosomal dominant disorder characterized by multiple lentigines, cardiac and cutaneous myxomas, and endocrine overactivity.
References in periodicals archive ?
1,2,4,7-10,12-27) However, given the significant morbidity and mortality of myxoma associated with Carney complex and other syndromes, the presence of conjunctival myxoma, particularly in a younger patient, should prompt a systematic evaluation.
This would lead to activation of RSK in Carney complex patients and contribute to tumour growth.
Currently there are no drugs to specifically treat Carney complex.
Histologic differential diagnosis between PEM/epithelioid blue nevus of Carney complex and conventional BN is not always easy.
Pigmented epithelioid melanocytoma can occur in a syndromic setting of Carney complex (a familial lentiginosis and low-grade neoplasia syndrome) but is more frequently seen as a sporadic lesion in patients without the complex.
They also discuss in great detail the relationship of pigmented epithelioid melanocytoma and epithelioid blue nevus of Carney complex.