A family presenting with multiple endocrine neoplasia type 2B: A case report

Journal of Medical Case Reports

Volumn 5, Issue , 2011, Pages

  Majidi, Mahnaz ^a   Haghpanah, Vahid ^a   Hedayati, Mahdi ^b   Khashayar, Patricia ^a   Mohajeri Tehrani, Mohammad ^a   Larijani, Bagher ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CARCINOEMBRYONIC ANTIGEN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; EYE EXAMINATION; EYELID TUMOR; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIP TUMOR; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; THYROID CANCER; THYROIDECTOMY; TONGUE TUMOR;

EID: 83655181509     PISSN: None     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-5-587     Document Type: Article

References (17)

1. Mutation analysis of the RET protooncogene and early thyroidectomy: results of a Portuguese cancer centre. João Bugalho M, Domingues R, Rosa Santos J, Catarino A, Sobrinho L, Surgery 2007 141 90 95 10.1016/j.surg.2006.03. 025 17188172 (Pubitemid 44918073)
2. Multiple endocrine neoplasia type 2: recent progress in diagnosis and management. Heshmati H, Hofbauer L, Eur J Endocrinol 1997 137 572 578 10.1530/eje.0.1370572 9437218 (Pubitemid 28005249)
3. Multiple endocrine neoplasia syndrome type IIb: a case report. Edwards M, Reid JS, Int J Paediatr Dent 1998 8 55 60 9558548 (Pubitemid 128506663)
4. Phenotypic multiple endocrine neoplasia type 2b, without endocrinopathy or RET gene mutation: implications for management. Spyer G, Ellard S, Turnpenny P, Hattersley A, Vaidya B, Thyroid 2006 16 605 608 10.1089/thy.2006.16.605 16839263 (Pubitemid 44066268)
5. Multiple endocrine neoplasia type 2 and the RET protooncogene: From bedside to bench to bedside. Machens A, Dralle H, Mol Cell Endocrinol 2006 247 34 40 10.1016/j.mce.2005.10.028 16343738 (Pubitemid 43277705)
6. Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B: presentation of two unrelated cases. Sallai A, Hosszú Gergics P, Rácz K, Fekete G, Eur J Pediatr 2008 167 441 446 10.1007/s00431-007-0532-x 17576593 (Pubitemid 351322479)
7. Metastatic medullary thyroid cancer in a pediatric patient with MEN 2B: emphasison the need for early recognition of extrathyroidal clinical findings associated with MEN 2B. Barrows F, Shockley W, Wright J, Susswein L, Evans J, Funkhouser W, Loechner K, Clin Pediatr 2006 45 463 467 10.1177/0009922806289625 (Pubitemid 44257191)
8. Failure to recognize multiple endocrine neoplasia 2B: more common than we think? Wray C, Rich T, Waguespack S, Lee J, Perrier N, Evans D, Ann Surg Oncol 2008 15 293 301 10.1245/s10434-007-9665-4 17963006
9. Multiple endocrine neoplasia type 2B genetic basis and clinical expression. Lee NC, Norton JA, Surg Oncol 2000 9 111 118 10.1016/S0960-7404(00) 00038-4 11356339 (Pubitemid 32441863)
10. External ophthalmic findings in multiple endocrine neoplasia type 2B. Parker D, Robinson B, Donnell B, Clin Exp Ophthalmol 2004 32 420 423 10.1111/j.1442-9071.2004.00848.x (Pubitemid 39193863)
11. From eyelid bumps to thyroid lumps: report of a MEN type IIb family and review of the literature. Jacob S, Hawes M, Ophthal Plast Reconstr Surg 2001 17 195 201 10.1097/00002341-200105000-00009 11388386 (Pubitemid 32467273)
12. Ocular manifestations in multiple endocrine neoplasia type 2b. Fink A, Lapidot M, Spierer A, Am J Ophthalmol 1998 126 305 307 10.1016/S0002-9394(98) 00102-0 9727527 (Pubitemid 28397106)
13. Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome. Eter N, Klingmüller D, Höppner W, Spitznas M, Graefe's Arch Clin Exp Ophthalmol 2001 239 391 394 10.1007/s004170000245 22159685 (Pubitemid 32600199)
14. Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets. Cerrato A, Falco V, Santoro M, J Mol Endocrinol 2009 43 143 155 10.1677/JME-09-0024 19383830
15. Molecular analysis of the RET proto-oncogene key exons in patients with MTC: a comprehensive study of the Iranian population. Alvandi E, Akrami SM, Chiani M, Thyroid 2011 21 373 382 10.1089/thy.2010.0267 21309721
16. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). Morrison PJ, Nevin NC, J Med Genet 1996 33 779 782 10.1136/jmg.33.9.779 8880581 (Pubitemid 26302493)
17. Multiple endocrine neoplasia type 2B. Nakata S, Okugi H, Saitoh Y, Takahashi H, ShimizuI K, Int J Urol 2001 8 398 400 10.1046/j.1442-2042.2001. 00320.x 11442663 (Pubitemid 34225123)