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

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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.

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Acknowledgements

This work was supported by the Intramural Research Program NICHD, NIH.

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  1. 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

    Constantine A. Stratakis

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  1. Constantine A. Stratakis
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Correspondence to Constantine A. Stratakis.

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Stratakis, C.A. Carney complex: A familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord 17, 367–371 (2016). https://doi.org/10.1007/s11154-016-9400-1

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  • DOI: https://doi.org/10.1007/s11154-016-9400-1

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