Oral lesions containing amyloid-like material

Rodrigues-Fernandes, Carla Isabelly; Caceres, CíNTHIA BARDáLEZ LóPEZ De; Sant’Ana, Maria Sissa Pereira; Soares, Ciro Dantas; Carvalho, Maria Goretti Freire de; Heerden, W.F.P. Van; Robinson, Liam; Radhakrishnan, Raghu; Hunter, Keith D.; Gomez, Ricardo Santiago; Almeida, Oslei Paes de; Vargas, Pablo Agustı́n; Günhan, Ömer; Tomasi, Ramiro Alejandro; Alawi, Faizan; Pontes, Hélder Antônio Rebelo; Fonseca, Felipe Paiva

doi:10.1016/j.oooo.2021.01.016

Cited by 3 publications

(6 citation statements)

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“…For such cases, special stains should be used for better differentiation among types [ 19 ]. Excessive hyalinized collagen deposits seen in hyaline fibromatosis syndrome may have a similar histological presentation [ 20 ]. It is a rare autosomal disease with genetic mutation of ANTXR2.…”

Section: Discussionmentioning

confidence: 99%

“…It is a rare autosomal disease with genetic mutation of ANTXR2. It is usually seen in childhood, commonly as gingival enlargement and sometimes with skin lesions [ 20 ]. Another rare disease in children is lipid proteinosis, which is an inherited autosomal disease characterized by mutation in the extracellular matrix gene and commonly affecting the vocal cords and larynx [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…It is usually seen in childhood, commonly as gingival enlargement and sometimes with skin lesions [ 20 ]. Another rare disease in children is lipid proteinosis, which is an inherited autosomal disease characterized by mutation in the extracellular matrix gene and commonly affecting the vocal cords and larynx [ 20 ]. Other conditions such as scleroderma and submucous fibrosis can have similar features microscopically, with differences in clinical presentation [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…Another rare disease in children is lipid proteinosis, which is an inherited autosomal disease characterized by mutation in the extracellular matrix gene and commonly affecting the vocal cords and larynx [ 20 ]. Other conditions such as scleroderma and submucous fibrosis can have similar features microscopically, with differences in clinical presentation [ 20 ]. Clinical and radiographic correlations are necessary in such cases to reach the proper diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…The tongue ulceration noted in this case was more likely to be related to trauma with function, which increased the patient’s discomfort. Based on the current literature, the treatment of choice for localized amyloidosis is surgical resection/ excision, but observation can be an option in mild cases [ 2 , 20 ]. This option in general is associated with several morbidities such infection, bleeding, and post-surgical loss of function [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

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A 65-Year-Old Woman with an Enlarged Tongue Due to Amyloidosis

et al. 2022

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Patient: Female, 65-year-old Final Diagnosis: Amyloidosis Symptoms: Enlarged tongue Medication:— Clinical Procedure: Intralesional steroid injection Specialty: Dentistry • General and Internal Medicine • Pathology • Rheumatology Objective: Unusual clinical course Background: Amyloidosis is a clinical condition characterized by the extracellular deposition of insoluble, abnormal amyloid fibrils in various body tissues. It is generally categorized into 2 forms – localized and systemic – with a wide range of signs and symptoms. This case report discusses the localized amyloidosis involvement of the oral cavity and its treatment. Case Report: A 65-year-old woman presented to the oral medicine clinic reporting painless tongue enlargement, which has been slowly progressing over several years, leading to difficulty in tongue movement, eating, and swallowing. Extra-oral examination showed a prominent lower lip with rubbery consistency. Intra-oral examination revealed a significantly enlarged tongue almost filling the whole oral cavity with dental indentations evident on all tongue surfaces and multiple, deep ulcerative craters of various sizes ranging from 2 to 5 mm in diameter. Histopathological examination under light microscope using hematoxylin and eosinophil and Congo red stain were diagnostic for amyloidosis. Further investigation with the Rheumatology Department, including renal and liver function tests, as well as echocardiography, were conducted and ruled out systemic involvement of other body organs. The patient was treated with weekly intra-lesional triamcinolone injections, with significant improvement. Conclusions: We report a rare case of localized amyloidosis presenting as macroglossia. Although the most effective management in tongue amyloidosis is surgical resection, conservative management in cases of localized oral amyloidosis presenting as macroglossia with weekly intra-lesional triamcinolone injections can be an effective approach, providing patients with better quality of life. Future studies exploring treatment modalities for similar cases with limited oral involvement are warranted.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A 65-Year-Old Woman with an Enlarged Tongue Due to Amyloidosis

et al. 2022

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Oral manifestations of amyloidosis and the diagnostic applicability of oral tissue biopsy

Tavares,

da Costa,

Araújo

et al. 2023

J Oral Pathology Medicine

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BackgroundAmyloidosis exhibits a variable spectrum of systemic signs and oral manifestations that can be difficult to diagnose. This study aimed to characterize the clinical, demographic, and microscopic features of amyloidosis in the oral cavity.MethodsThis collaborative study involved three Brazilian oral pathology centers and described cases with a confirmed diagnosis of amyloidosis on available oral tissue biopsies. Clinical data were obtained from medical records. H&E, Congo‐red, and immunohistochemically stained slides were analyzed.ResultsTwenty‐six oral biopsies from 23 individuals (65.2% males; mean age: 59.6 years) were included. Oral involvement was the first sign of the disease in 67.0% of cases. Two patients had no clinical manifestation in the oral mucosa, although the histological analysis confirmed amyloid deposition. Amyloid deposits were distributed in perivascular (88.0%), periacinar and periductal (80.0%), perineurial (80.0%), endoneurial (33.3%), perimuscular (88.2%), intramuscular (94.1%), and subepithelial (35.3%) sites as well as around fat cells (100.0%). Mild/moderate inflammation was found in 65.4% of cases and 23.1% had giant cells.ConclusionsAmyloid deposits were consistently found in oral tissues, exhibiting distinct deposition patterns. Oral biopsy is less invasive than internal organ biopsy and enables the reliable identification of amyloid deposits even in the absence of oral manifestations. These findings corroborate the relevance of oral biopsy for the diagnosis of amyloidosis.

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