Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

European Journal of Pediatrics

Volumn 168, Issue 11, 2009, Pages 1401-1404

  Vandersteen, Anthony ^a   Turnbull, Jess ^b   Jan, Wajanat ^a   Simpson, John ^a   Lucas, Sebastian ^a   Anderson, David ^a   Lin, Jean Pierre ^c   Stratakis, Constantine ^d   Pichert, Gabriella ^a   Lim, Ming ^c  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b LEWISHAM AND GREENWICH NHS TRUST   (United Kingdom)

^c EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Atrial myxoma; Carney complex; Cutaneous lentiginosis; Stroke

Indexed keywords

ADOLESCENT; ARTICLE; CARNEY COMPLEX; CASE REPORT; DNA SEQUENCE; FAMILIAL CANCER; HEART ATRIUM MYXOMA; HEART ATRIUM SEPTUM; HUMAN; LENTIGINOSIS; MALE; MITRAL VALVE; PRIORITY JOURNAL; SERTOLI CELL TUMOR; SKIN MANIFESTATION; STROKE; TISSUE SECTION; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADOLESCENT; CARNEY COMPLEX; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; DIAGNOSIS, DIFFERENTIAL; GENETIC MARKERS; HEART ATRIA; HEART NEOPLASMS; HUMANS; LENTIGO; MALE; MUTATION; MYXOMA; SEMINOMA; SKIN; SKIN NEOPLASMS; TESTICULAR NEOPLASMS;

EID: 70349619647     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-0935-y     Document Type: Article

References (18)

1. B Brown A Ram P Clayton G. Humprey 2007 Conservative management of bilateral Sertoli cell tumours of the testicle in association with the Carney complex: a case report J Pediatr Surg 42 E13 E15 17848226 10.1016/j.jpedsurg. 2007.06.008 1:STN:280:DC%2BD2srjsFGluw%3D%3D (Pubitemid 47376843)
2. JA Carney H Gordon PC Carpenter, et al. 1985 The complex of myxomas, spotty pigmentation, and endocrine overactivity Medicine (Baltimore 64 4 270 283 1:STN:280:DyaL2M3jvFyguw%3D%3D Jul
3. M Gennari CA Stratakis A Hovarth, et al. 2008 A novel PRKAR1A mutation with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations Clin Endocrinol (Oxf 69 751 755 10.1111/j.1365-2265.2008.03286.x 1:CAS:528:DC%2BD1cXhsVeqsLnP
4. FP Giralsi LM Fatti Berlota, et al. 2007 Carney's complex with acromegaly as the leading clinical condition Clin Endocrinol (Oxf 68 322
5. A Horvath I Bossis C Giatzakis, et al. 2008 Large deletions of the PRKAR1A gene in Carney complex Clin Cancer Res 14 388 395 18223213 10.1158/1078-0432.CCR-07-1155 1:CAS:528:DC%2BD1cXhtVKit7w%3D (Pubitemid 351226105)
6. AD Irani AL Estrera LM Buja H Safi 2008 Biatrial myxoma: a case report and review of the literature J Card Surg 23 385 390 18384573 10.1111/j.1540-8191.2007.00545.x (Pubitemid 351852555)
7. LS Kirschner JA Carney SD Pack, et al. 2000 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex Nat Genet 26 89 92 10973256 10.1038/79238 1:CAS:528:DC%2BD3cXmsVKrsr4%3D (Pubitemid 30692864)
8. F O'Rourke N Dean MS Mouradian, et al. 2003 Atrial myxoma as a cause of stroke: case report and discussion Can Med Assoc J 169 10 1049 1051
9. J Puntila T Hakala J Salminen J Pihkala 2006 Positive genetic test led to an early diagnosis of myxoma in a 4-year-old boy Interact CardioVasc Thorac Surg 5 662 663 17670676 10.1510/icvts.2006.134817 (Pubitemid 44504099)
10. KS Ryou SH Lee SH Park 2008 Multiple fusiform myxomatous cerebral aneurysms in a patient with Carney complex J Neurosurg 109 318 320 18671646 10.3171/JNS/2008/109/8/0318
11. A Sallai E Hosszu P Gergics, et al. 2008 Orolabial signs are important clues for the diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases Eur J Pediatr 167 441 446 17576593 10.1007/s00431-007-0532-x (Pubitemid 351322479)
12. B Sosibatros CA Stratakis 2007 Carney complex, the first 20 years Curr Opin Oncol 19 24 29
13. CA Stratakis 2000 Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses Horm Res 54 334 343 11595829 10.1159/000053283 1:CAS:528:DC%2BD3MXnsVemtLk%3D (Pubitemid 34701745)
14. CA Stratakis LS Kirschner JA Carney 2001 Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation J Clin Endocrin Metab 86 9 4041 4046 10.1210/jc.86.9.4041 1:CAS:528:DC%2BD3MXmvFCktrk%3D (Pubitemid 32848510)
15. MF Swartz CJ Lutz VS Chandan, et al. 2006 Atrial myxomas: pathological types, tumor location, and presenting symptoms J Card Surg 21 435 440 16846432 10.1111/j.1540-8191.2006.00265.x (Pubitemid 43989949)
16. M Veugelers M Bressan DA McDermott, et al. 2004 Mutation of perinatal myosin heavy chain associated with a Carney complex variant New Engl J Med 351 460 469 15282353 10.1056/NEJMoa040584 1:CAS:528:DC%2BD2cXmtFaktrc%3D (Pubitemid 38988595)
17. D Wilkes DA McDermott CT Basson 2005 Clinical phenotypes and molecular genetic mechanisms of Carney complex Lancet Oncol 6 501 508 15992699 10.1016/S1470-2045(05)70244-8 1:CAS:528:DC%2BD2MXlvVWktL0%3D (Pubitemid 40903631)
18. RG Zahedi DS Wald S Ohri 2006 Carney complex Ann Thorac Surg 82 320 322 16798242 10.1016/j.athoracsur.2005.07.099 (Pubitemid 43913589)