Multiple cutaneous neuromas and macular amyloidosis associated with medullary thyroid carcinoma

Journal of the American Academy of Dermatology

Volumn 56, Issue 2 SUPPL., 2007, Pages

  Baykal, Can ^a   Buyukbabani, Nesimi ^b   Boztepe, Harika ^c   Barahmani, Nazila ^a   Yazganoglu, K Didem ^a  

^a Departments of Dermatology   (Turkey)

^b Pathology ^*

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; GLUTAMIC ACID; PROTEIN RET;

ADULT; AMYLOIDOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENE MUTATION; GERM LINE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; ONCOGENE RET; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SIPPLE SYNDROME; SKIN TUMOR; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

AMYLOIDOSIS; CARCINOMA, MEDULLARY; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; MUTATION; NEOPLASMS, MULTIPLE PRIMARY; NEUROMA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS C-RET; SKIN NEOPLASMS; THYROID NEOPLASMS;

EID: 33846056414     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2006.01.005     Document Type: Article

References (37)

1. Feingold K.R., and Elias P.M. Endocrine-skin interactions. Cutaneous manifestations of adrenal disease, pheochromocytomas, carcinoid syndrome, sex hormone excess and deficiency, polyglandular autoimmune syndromes, multiple endocrine neoplasia syndromes, and other miscellaneous disorders. J Am Acad Dermatol 19 (1988) 1-20
2. Reed R.J., and Argenyi Z. Tumors of neural tissue. In: Elder D., Elenitsas R., Johnson Jr. B., and Murphy G.F. (Eds). Lever's histopathology of the skin. 9th ed. (2005), Lippincott Williams & Wilkins, Philadelphia 1134-1137
3. Holloway K.B., and Flowers F.P. Multiple endocrine neoplasia 2B (MEN 2B)/MEN 3. Dermatol Clin 13 (1995) 99-103
4. Holm T.W., Prawer S.E., Sahl W.J., and Bart B.J. Multiple cutaneous neuromas. Arch Dermatol 107 (1973) 608-610
5. Guillet G., Gauthier Y., Tamisier J.M., Geniaux M., Leroy J.P., Texier L., et al. Linear cutaneous neuromas (dermatoneurie en stries): a limited phakomatosis with striated pigmentation corresponding to cutaneous hyperneury (featuring multiple endocrine neoplasia syndrome?). J Cutan Pathol 14 (1987) 43-48
6. Altmeyer P., and Merkel K.H. [Multiple systemic neuromas of the skin and mucous membranes.]. Hautarzt 32 (1981) 240-244 German
7. Truchot F., Grezard P., Wolf E., Balme B., and Perrot H. Multiple idiopathic mucocutaneous neuromas: a new entity?. Br J Dermatol 145 (2001) 826-829
8. Ceronni L., Kopera D., Soyer H.P., and Kerl H. [Notalgia paraesthetica, "posterior pigmented pruritic patch" and macular amyloidosis. Three stages of a disease.]. Hautarzt 44 (1993) 777-780 German
9. Gagel R.F., Levy M.L., Donovan D.T., Alford B.R., Wheeler T., and Tschen J.A. Multiple endocrine neoplasia type 2A associated with cutaneous lichen amyloidosis. Ann Intern Med 111 (1989) 802-806
10. Bugalho M.J., Limbert E., Sobrinho L.G., Clode A.L., Soares J., Nunes J.F., et al. A kindred with multiple endocrine neoplasia type 2A associated with pruritic skin lesions. Cancer 70 (1992) 2664-2667
11. Nunziata V., Giannattasio R., Di Giovanni G., D'Armiento M.R., and Mancini M. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia type 2A (Sipple's syndrome). Clin Endocrinol (Oxf) 30 (1989) 57-63
12. de Argila D., Ortiz-Romero P.L., Ortiz-Frutos J., Rodriguez-Peralto J.L., and Iglesias L. Cutaneous macular amyloidosis associated with multiple endocrine neoplasia. Clin Exp Dermatol 21 (1996) 313-314
13. Verga U., Fugazzola L., Cambiaghi S., Pritelli C., Alessi E., Cortelazzi D., et al. Frequent association between MEN 2A and cutaneous lichen amyloidosis. Clin Endocrinol (Oxf) 59 (2003) 156-161
14. Gorlin R.J., Sedano H.O., Vickers R.A., and Cervenka J. Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid-a syndrome. Cancer 22 (1968) 293-299
15. Brown R.S., Colle E., and Tashjian A.H. The syndrome of multiple mucosal neuromas and medullary thyroid carcinoma in childhood. Importance of recognition of the phenotype for the early detection of malignancy. J Pediatr 46 (1975) 77-83
16. Mallory S.B. Other dermatoses. In: Bolognia J.L., Jorizzo J.L., and Rapini R.P. (Eds). Dermatology (2003), Mosby, St Louis 887-914
17. Lucky W.A., and Powell J. Cutaneous manifestations of endocrine, metabolic, and nutritional disorders. In: Schachner L.A., and Hansen R.C. (Eds). Pediatric dermatology. 3rd ed. (2003), Elsevier, St Louis 901-941
18. Bazex A., Boulard C., Delsol G., Bazex J., and Louvet J.L. [Hereditary Sipple syndrome (author's transl)]. Ann Dermatol Venereol 104 (1977) 103-114 French
19. Reed R.J., Fine R.M., and Meltzer H.D. Palisaded encapsulated neuromas of the skin. Arch Dermatol 106 (1972) 865-870
20. Argenyi Z.B. Recent developments in cutaneous neural neoplasms. J Cutan Pathol 20 (1993) 97-108
21. Argenyi Z.B. Newly recognized neural neoplasms relevant to the dermatopathologist. Dermatol Clin 10 (1992) 219-234
22. Argenyi Z.B., Cooper P.H., and Santa Cruz D. Plexiform and other unusual variants of palisaded encapsulated neuroma. J Cutan Pathol 20 (1993) 34-39
23. Argenyi Z.B., Santa Cruz D., and Bromley C. Comparative light-microscopic and immunohistochemical study of traumatic and palisaded encapsulated neuromas of the skin. Am J Dermatopathol 14 (1992) 504-510
24. Dunn E.L., Nishiyama R.H., and Thompson N.W. Medullary carcinoma of the thyroid gland. Surgery 73 (1973) 848-858
25. Chong G.C., Beahrs O.H., Sizemore G.W., and Woolner L.H. Medullary carcinoma of the thyroid gland. Cancer 35 (1975) 695-704
26. Mathew C.G., Chin K.S., Easton D.F., Thorpe K., Carter C., Liou G.I., et al. A linked genetic marker for multiple endocrine neoplasia type 2 on chromosome 10. Nature 328 (1987) 527
27. Simpson N.E., Kidd K.K., Goodfellow P.J., McDermid H., Myers S., Kidd J.R., et al. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328 (1987) 528-530
28. Jackson C.E., Norum C.E., O'Neal L.W., Nikola T.F., and Delaney J.P. Linkage between MEN IIB and chromosome 10 markers linked to MEN IIA. [abstract]. Am J Hum Genet 43 (1988) A147
29. Gertner M.E., and Kebebew E. Multiple endocrine neoplasia type 2. Curr Treat Options Oncol 5 (2004) 315-325
30. Eng C., Smith D.P., Mulligan L.M., Nagai M.A., Healey C.S., Ponder M.A., et al. Point mutation within the thyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 3 (1994) 237-241
31. Kaufman F.R., Roe T.I., Isaacs Jr. H., and Weitzman J. Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. Pediatrics 70 (1982) 263-267
32. Mulligan L.M., Eng C., Healey C.S., Clayton D., Kwok J.B., Gardner E., et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6 (1994) 70-74
33. Mulligan L.M., Kwok J.B., Healey C.S., Elsdon M.J., Eng C., Gardner E., et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363 (1993) 458-460
34. Ferrer J.P., Halperin I., and Palou J. Cutaneous lichen amyloidosis and familial medullary thyroid carcinoma. Ann Intern Med 112 (1990) 551-552
35. Seri M., Celli I., Betsos N., Claudiani F., Camera G., and Romeo G. A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. Clin Genet 51 (1997) 86-90
36. Ceccherini I., Romei C., Barone V., Pacini F., Martino E., Loviselli A., et al. Identification of the Cys634→Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J Endocrinol Invest 17 (1994) 201-204
37. Lemos M.C., Carrilho F., Rodrigues F.J., Santos P., Carvalheiro M., Ruas M.A., et al. Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis. Endocr Pract 8 (2002) 19-22