title: Carney complex: A familial lentiginosis predisposing to a variety of tumors.
abstract: Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer. Other tumors associated with Carney complex include: 1) myxomas of the heart, breast and other sites; 2) psamommatous melanotic schwannomas which can become malignant; 4) a predisposition to a variety of cancers.
authors.affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA. stratakc@mail.nih.gov.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D056733:Carney Complex / Q000235:genetics / Q000473:pathology*; D004701:Endocrine Gland Neoplasms / Q000235:genetics / Q000473:pathology*; D004700:Endocrine System Diseases / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007911:Lentigo / Q000235:genetics / Q000473:pathology*
keywords: Acromegaly; Carney complex; Myxomas; Primary pigmented nodular adrenocortical disease; Schwannomas