IMR Press / FBL / Volume 5 / Issue 3 / DOI: 10.2741/stratakis

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes
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1 Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Building 10, Room 10N262, Bethesda, MD 20892-1862, USA
Academic Editor:Owen Rennert
Front. Biosci. (Landmark Ed) 2000, 5(3), 353–366; https://doi.org/10.2741/stratakis
Published: 1 March 2000
(This article belongs to the Special Issue Genetic diseases)
Abstract

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentigenoses), which include the Peutz-Jeghers, LEOPARD, arterial dissections and lentiginosis, and Laugier-Hunziker syndromes, Cowden disease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome and the centrofacial, benign patterned and segmental lentiginoses, all of which can be associated with a variety of developmental defects. The inheritance of Carney complex, just like that of the other MENs and the lentiginoses, is autosomal dominant. Genetic loci or genes have been identified for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not for other lentiginoses. Elucidation of the molecular defects responsible for these disorders is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.

Keywords
Lentigenes
Myxoma
Carney complex
Multiple endocrine neoplasia
Peutz-Jeghers syndrome
RuvalcabaMyhre-Smith syndrome
LEOPARD syndrome
Arterial dissections
Genetics
Review
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