Literature DB >> 19650827

Carney complex and lentiginosis.

Anelia Horvath1, Constantine A Stratakis.   

Abstract

Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple neoplasia syndrome involving skin and cardiac myxomas, pigmented skin lesions and endocrine tumors. Pigmented cutaneous manifestations in CNC are important diagnostically because they can be used for the early detection of the disease and, thus, the prevention of life-threatening complications of CNC related to heart myxomas and endocrine abnormalities. Specific for the disease skin lesions are present in more than half of the CNC patients. A major challenge is to distinguish pigmented skin lesions associated with CNC from other skin pathology, and thus accurately estimate the risk of cancer in affected patients; curiously, patients with CNC do not appear to have predisposition to skin cancers whereas this is not the case with other genetic syndromes associated with melanotic and other cutaneous lesions. In this paper, we review the current knowledge on cutaneous pathology associated with CNC and the most recent data on the molecular basis of the disease.

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Year:  2009        PMID: 19650827      PMCID: PMC3136757          DOI: 10.1111/j.1755-148X.2009.00613.x

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN: 1755-1471            Impact factor:   4.693


  61 in total

Review 1.  Carney complex: the first 20 years.

Authors:  Sosipatros A Boikos; Constantine A Stratakis
Journal:  Curr Opin Oncol       Date:  2007-01       Impact factor: 3.645

Review 2.  Carney complex: pathology and molecular genetics.

Authors:  Sosipatros A Boikos; Constantine A Stratakis
Journal:  Neuroendocrinology       Date:  2006       Impact factor: 4.914

Review 3.  Rare syndromes.

Authors:  Serge A Jabbour; Batya B Davidovici; Ronni Wolf
Journal:  Clin Dermatol       Date:  2006 Jul-Aug       Impact factor: 3.541

4.  PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Authors:  Audrey Robinson-White; Elise Meoli; Sotirios Stergiopoulos; Anelia Horvath; Sosipatros Boikos; Ioannis Bossis; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2006-03-28       Impact factor: 5.958

5.  Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency.

Authors:  Manos Mavrakis; Jennifer Lippincott-Schwartz; Constantine A Stratakis; Ioannis Bossis
Journal:  Hum Mol Genet       Date:  2006-09-08       Impact factor: 6.150

6.  Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

Authors:  A M Westerman; M M Entius; P P Boor; R Koole; E de Baar; G J Offerhaus; J Lubinski; D Lindhout; D J Halley; F W de Rooij; J H Wilson
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

7.  A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Authors:  Anelia Horvath; Sosipatros Boikos; Christoforos Giatzakis; Audrey Robinson-White; Lionel Groussin; Kurt J Griffin; Erica Stein; Elizabeth Levine; Georgia Delimpasi; Hui Pin Hsiao; Meg Keil; Sarah Heyerdahl; Ludmila Matyakhina; Rossella Libè; Amato Fratticci; Lawrence S Kirschner; Kevin Cramer; Rolf C Gaillard; Xavier Bertagna; J Aidan Carney; Jérôme Bertherat; Ioannis Bossis; Constantine A Stratakis
Journal:  Nat Genet       Date:  2006-06-11       Impact factor: 38.330

8.  STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.

Authors:  C Y Jiang; S Esufali; T Berk; S Gallinger; Z Cohen; M Tobi; M Redston; B Bapat
Journal:  Clin Genet       Date:  1999-08       Impact factor: 4.438

9.  A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.

Authors:  Lionel Groussin; Anelia Horvath; Eric Jullian; Sosipatros Boikos; Fernande Rene-Corail; Herve Lefebvre; Fritz-Line Cephise-Velayoudom; Marie-Christine Vantyghem; Philippe Chanson; Bernard Conte-Devolx; Miguel Lucas; Alfonso Gentil; Carl D Malchoff; Frédérique Tissier; J Aidan Carney; Xavier Bertagna; Constantine A Stratakis; Jérôme Bertherat
Journal:  J Clin Endocrinol Metab       Date:  2006-02-07       Impact factor: 5.958

Review 10.  Carney complex (CNC).

Authors:  Jérôme Bertherat
Journal:  Orphanet J Rare Dis       Date:  2006-06-06       Impact factor: 4.123

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  12 in total

1.  "patients can have as many gene variants as they damn well please": why contemporary genetics presents us daily with a version of Hickam's dictum.

Authors:  Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2012-05       Impact factor: 5.958

Review 2.  Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Authors:  Paraskevi Salpea; Constantine A Stratakis
Journal:  Mol Cell Endocrinol       Date:  2013-09-05       Impact factor: 4.102

Review 3.  Carney complex: an update.

Authors:  Ricardo Correa; Paraskevi Salpea; Constantine A Stratakis
Journal:  Eur J Endocrinol       Date:  2015-06-30       Impact factor: 6.664

Review 4.  [Pigmented macules as possible early signs of genetic syndromes].

Authors:  H Hamm; K Emmerich; J Olk
Journal:  Hautarzt       Date:  2019-07       Impact factor: 0.751

Review 5.  Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Authors:  Fausto J Rodriguez; Constantine A Stratakis; D Gareth Evans
Journal:  Acta Neuropathol       Date:  2011-12-31       Impact factor: 17.088

Review 6.  More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies.

Authors:  Zhu Shen; Jodi D Hoffman; Fei Hao; Eric Pier
Journal:  Oncologist       Date:  2012-06-15

7.  Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Authors:  Madson Q Almeida; Constantine A Stratakis
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-12       Impact factor: 4.690

Review 8.  Solid tumors associated with multiple endocrine neoplasias.

Authors:  Madson Q Almeida; Constantine A Stratakis
Journal:  Cancer Genet Cytogenet       Date:  2010-11

Review 9.  Acrodysostosis syndromes.

Authors:  C Silve; C Le-Stunff; E Motte; Y Gunes; A Linglart; E Clauser
Journal:  Bonekey Rep       Date:  2012-11-21

10.  [Psammomatous melanotic schwannoma as indicator of a Carney complex].

Authors:  M Seidl; G Zolnhofer; S Gunser; J Ennker; W Schäfer; L Tietze
Journal:  Pathologe       Date:  2013-07       Impact factor: 1.011

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