| Literature DB >> 27943004 |
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.Entities:
Keywords: Acromegaly; Carney complex; Myxomas; Primary pigmented nodular adrenocortical disease; Schwannomas
Mesh:
Year: 2016 PMID: 27943004 PMCID: PMC5192557 DOI: 10.1007/s11154-016-9400-1
Source DB: PubMed Journal: Rev Endocr Metab Disord ISSN: 1389-9155 Impact factor: 6.514