Abstract
Background
Localized Amyloidosis (AL) may rarely involve oral mucosa. This is the first known reported case describing the development of tongue AL in a 30-year-old patient with Neurofibromatosis (NF) type-2.
Case
A female patient presented with a painless, well-circumscribed nodule of the tongue. Her medical history included NF type-2 with chromosome-22 abnormal karyotype (mosaicism), multiple intracranial and spinal meningiomas/schwannomas and unilateral blindness/deafness. The biopsy of the excised lesion of the tongue revealed subepithelial accumulation of an amorphous, nodular, fibrillar material positive for Congo red. Blood examination showed increased Thyroxine-T4 due to thyroid multinodular colloid goiter, but excluded any other hematological/immunological disorder or organ dysfunction. No recurrence was observed after a six-month follow-up.
Conclusion
This case highlights the possibility of oral manifestations as the only sign of AL and reveals the unexpected co-existence of AL and NF 2, for the first time.
References
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003;349(6):583–6.
Hierschfield GM. Amyloidosis: a clinic-pathophysiological synopsis. Semin Cell Develop Biol. 2004;15:39–44.
Westermark P, Benson MD, Buxbaum JN, et al. A primer of amyloid nomeclature. Amyloid. 2007;14:179–83.
Petersson T, Konttinen YT. Amyloidosis-recent developments. Semin Arthritis Rheum. 2010;39(5):356–8.
Merlini G, Westermark P. The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med. 2004;255(2):159–78.
Penner CR, Muller S. Head and neck amyloidosis: a clinicopathologic study of 15 cases. Oral Oncol. 2006;42(4):421–9.
Kasper DS, Braunwald E, Fauci AS, Houser SL, Longo DL, Jameson JL. Harrison’s principles of internal medicine. 6th ed. Mac Graw-Hill, Medical Publishing Division 2005;2024.
Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and maxillofacial pathology. 3rd ed. Saunders Elsevier 2009;822.
Stoopler ET, Sollecito TP, Chen SY. Amyloid deposition in the oral cavity: a retrospective study and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003;95(6):674–80.
Serdar A, Basak D, Sercan G, et al. Solitary amyloid tumor of the tongue base. Int J Otolaryngol. 2009;2009:515068-71.
Henley E, Houghton N, Bucknall R, et al. Localized amyloidosis of the palate. Clin Exp Dermatol. 2008;33(1):100–1.
Laskaris G. Pocket atlas of oral diseases. 2nd ed. Georg Thieme Verlag 2006;290.
Antinheimo J, Sankila R, Carpen O, et al. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000;54(1):71–6.
Mautner VF, Lindenau M, Baser ME, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurg. 1996;38:880–5.
Kanter WR, Eldridge R, Fabricant A, et al. Central neurofibromatosis with bilateral with bilateral acoustic neuroma. Genetic clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology. 1980;30:851–9.
Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology. 2001;56:1433–43.
Bongiorno MR, Pistone G, Aricò M. Manifestations of the tongue in neurofibromatosis type 1. Oral Dis. 2006;12(2):125–9.
Kang J, Khang SK, Choi J, et al. Intraneural perineurioma in the tongue. Korean J Pathol. 2007;41:51–4.
Barsley RE, Cottone JA. Oral manifestations of neurofibromatosis types I and II. Oral Surg Oral Med Oral Pathol. 1992;73:376–82.
Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J. Skin abnormalities in neurofibromatosis 2. Arch Dermatol. 1997;133(12):1539–43.
Khan MF, Falk RH. Amyloidosis. Postgrad Med J. 2001;77(913):686–93.
Steciuk A, Dompmartin A, Troussard X, et al. Cutaneous amyloidosis and possible association with systemic amyloidosis. Int J Dermatol. 2002;41(3):127–34.
van der Waal RI, van de Scheur MR, Huijgens PC, et al. Amyloidosis of the tongue as a paraneoplastic marker of plasma cell dyscrasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002;94(4):444–7.
Sanchorawala V, Blanchard E, Seldin DC, et al. AL amyloidosis associated with B-cell lymphoproliferative disorders: frequency and treatment outcomes. Am J Hematol. 2006;81(9):692–5.
Falk RH, Skinner M. The systemic amyloidoses: an overview. Adv Intern Med. 2000;45:107–37.
Rivera RJ, Vicenty S. Cardiac manifestations of amyloid disease. Bol Asoc Med P R. 2008;100(4):60–70.
Nishi S, Alchi B, Imai N. New advances in renal amyloidosis. Clin Exp Nephrol. 2008;12(2):93–101.
Petre S, Shah IA, Gilani N. Review article: gastrointestinal amyloidosis—clinical features, diagnosis and therapy. Aliment Pharmacol Ther. 2008;27(11):1006–16.
Simmons Z, Specht CS. The neuromuscular manifestations of amyloidosis. J Clin Neuromuscul Dis. 2010;11(3):145–57.
Kerner MM, Wang MB, Angier G, et al. Amyloidosis of the head and neck. A clinicopathologic study of the UCLA experience, 1955–1991. Arch Otolaryngol Head Neck Surg. 1995;121(7):778–82.
Angiero F, Seramondi R, Magistro S, et al. Amyloid deposition in the tongue: clinical and histopathological profile. Anticancer Res. 2010;30(7):3009–14.
Fahrner KS, Black CC, Gosselin BJ. Localized amyloidosis of the tongue: a review. Am J Otolaryngol. 2004;25(3):186–9.
Pentenero M, Davico Bonino L. Localized oral amyloidosis of the palate. Amyloid. 2006;13(1):42–6.
Aono J, Yamagata K, Yoshida H. Local amyloidosis in the hard palate: a case report. Oral Maxillofac Surg. 2009;13(2):119–22.
Koloktronis A, Chatzigiannis I, Paloukidou N. Oral involvement in a case of AA amyloidosis. Oral Dis. 2003;9(5):269–72.
Kokong DD, Ibekwe TS, Okolo CA, et al. Amyloid angiopathy of the floor of the mouth: a case report and review of the literature. J Med Case Reports. 2007;1:117–20.
Myssiorek D, Alvi A, Bhuiya T. Primary salivary gland amyloidosis causing sicca syndrome. Ann Otol Rhinol Laryngol. 1992;101(6):487–90.
Caporali R, Bonacci E, Epis O, et al. Safety and usefulness of minor salivary gland biopsy: retrospective analysis of 502 procedures performed at a single center. Arthritis Rheum. 2008;59(5):714–20.
Finkel KJ, Kolansky DM, Giorgadze T, et al. Amyloid infiltration of the salivary glands in the setting of primary systemic amyloidosis without multiple myeloma. Otolaryngol Head Neck Surg. 2006;135(3):471–2.
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Andreadis, D., Poulopoulos, A., Papadopoulos, P. et al. Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II. Head and Neck Pathol 5, 302–305 (2011). https://doi.org/10.1007/s12105-011-0251-5
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DOI: https://doi.org/10.1007/s12105-011-0251-5