Carney complex: A familial lentiginosis predisposing to a variety of tumors View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-09

AUTHORS

Constantine A. Stratakis

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. More... »

PAGES

367-371

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11154-016-9400-1

DOI

http://dx.doi.org/10.1007/s11154-016-9400-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030239430

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27943004


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