Localized Tongue Amyloidosis in a Patient with Neurofibromatosis Type II

Department of Oral Medicine/Pathology, School of Dentistry, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Head and Neck Pathology 02/2011; 5(3):302-5. DOI: 10.1007/s12105-011-0251-5
Source: PubMed


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.
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.
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.

Download full-text


Available from: Apostolos Epivatianos, Feb 28, 2014
23 Reads
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Objective Review Mayo Clinic experience of localized tongue amyloidosis.Study DesignCase series with retrospective chart review.SettingAcademic medical center.Subjects and Methods Cases of localized tongue amyloidosis were identified from the dysproteinemia database at the Mayo Clinic in Rochester, Minnesota. Electronic records were reviewed with focus on presenting symptoms, laboratory results (ie, serum or urine immunoelectrophoresis, bone marrow biopsy, and fat aspirate analysis), treatment modality, and status of disease at follow-up.ResultsSix cases of localized tongue amyloidosis presented to the Mayo Clinic between 1969 and 2011. Mean patient age was 69 years (range, 43-90). Patients presented with asymptomatic tongue mass(es). Biopsy of the tongue mass in all patients showed amyloid on Congo red stains. Work-up for systemic amyloidosis, including bone marrow biopsy, fat aspiration, and serum and urine protein immunoelectrophoresis, was negative for all 6 patients, nor was there other organ involvement. Two patients underwent resection of the lesions, and the remaining patients elected for observation. Recurrence requiring repeat excision occurred in 1 of the patients that underwent resection. Repeat evaluation for systemic involvement was performed in 3 patients 1 to 3 years after the initial diagnosis. None of these patients went on to develop systemic involvement.Conclusions Localized tongue amyloidosis remains a rare diagnosis and requires exclusion of systemic involvement. Localized lesions may be observed or resected; however, recurrence may occur with resection. Patients with localized tongue amyloidosis do not appear to be at increased risk of developing systemic involvement.
    Otolaryngology Head and Neck Surgery 05/2013; 149(2). DOI:10.1177/0194599813490896 · 2.02 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Amyloid involvement of the tongue is almost always secondary to systemic amyloidosis. Isolated amyloidosis of the tongue is relatively rare and it accounts for less than 9% of all types of amyloidosis. We are presenting a case of a 54-year-old male patient who complained of an enlarged tongue and bilateral multiple swellings on the lateral borders of the tongue, which had been there since one year. Bilaterally symmetrical, violaceous, purpuric patches interspersed with nodules were seen surrounding the eyes. Histopathologically, the lesion exhibited homogenous eosinophilic amyloid-like material. Special staining with Congo red showed amyloid material as peach red colour under light microscopy and as apple green birefringence under polarized light. Based on these observations, a definitive diagnosis of amyloidosis of tongue was made. Amyloidosis of tongue is uncommon and its features resemble those of a benign tumour. A battery of tests is necessary to differentiate localized amyloidosis from its systemic forms.
    12/2013; 7(12):3094-5. DOI:10.7860/JCDR/2013/7028.3865
  • [Show abstract] [Hide abstract]
    ABSTRACT: Localized primary cutaneous amyloidosis is uncommon in Europe and North America and is infrequently reported in the English literature. The constituents of such deposits have not been previously examined; this series characterizes amyloid deposits in localized vulvar amyloidosis and their association with vulvar intraepithelial neoplasia. All biopsies and excisions of vulva over 18 months were reviewed. Cases with suspected amyloidosis were retrieved after Institutional Review Board (IRB) approval. Twenty cases, mimicking amyloidosis, were selected as controls. All study and control cases were stained with Congo red. Four Congo red positive study cases were studied by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS). Twenty five of 27 Congo red positive study cases were then examined by immunohistochemical stains with antibodies to cytokeratin 5 (CK5) and cytokeratin 14 (CK14). Of 149 cases reviewed, 26 localized and one systemic vulvar amyloidosis, were identified. LC-MS/MS analysis of the deposits revealed unique peptide profile consistent with CK5 and CK14. Immunohistochemical staining with antibodies to CK5 and CK14 also detected these components in the deposits. The vulvar deposit of systemic amyloidosis consisted of AL (lambda)-type amyloid deposit. All control cases were negative for Congo red. Keratin-associated amyloid materials (CK5 and CK14) were found to be unique in localized vulvar amyloidosis. Leakage of keratins from the basal layer of the epithelium into the superficial dermis may have been the possible source of the deposits. It appears to be associated with both high- and low-grade vulvar intraepithelial neoplasia (VINs) and rarely lichen sclerosus, seborrheic keratosis and benign vulvar skin.
    Human pathology 10/2014; 45(10). DOI:10.1016/j.humpath.2014.07.004 · 2.77 Impact Factor
Show more