Carney's complex(redirected from Spotty mucocutaneous pigmentation)
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
An autosomal dominant [MIM 160980] clinical triad of young adult onset, which consists of spotty mucocutaneous Lentigenes, cutaneous and cardiac—Atrial Myxomas—and Blue nevi, endocrine hyperactivity, multifocal myxoid fibroadenomas of breast, adrenocortical hyperplasia and calcifying Sertoli cell tumours of testes
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Carney's complexCardiology A variable clinical complex of mucocutaneous, visceral, and endocrine disorders, defined by ≥ 2 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 tumor
- large cell calcifying Sertoli cell tumors, often bilateral/multicentric
- Pituitary hGH-secreting tumor
- –Acromegaly or gigantism (MCP 1986; 61:165)
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.