Intraoral manifestation of systemic AL amyloidosis with unique microscopic presentation of intracellular amyloid deposition in striated muscles

Abstract

We report the history of a 59-year old patient with systemic AL amyloidosis of intraoral manifestation. The patient first presented with complaints about dysphagia and remarkable enlargement of the tongue with highly reduced mobility, as well as bilateral submucosal thickenings on the cheeks. Histopathological examination of the incisional biopsy of the buccal mucosa and underlying tissues revealed AL amyloidosis. The microscopic presentation was, however, unique, as the amyloid deposits were present intracellularly in the striated muscles. The subsequent bone marrow biopsy confirmed the diagnosis of primary amyloidosis/multiple myeloma-associated amyloidosis.

Secondary Amyloidosis Presenting as Oral Nodules

“…Other oral site, like buccal mucosa may also be involved. 4,7,8 Diagnosis for oral amyloidosis is established with histopathologic examination. Viewing of sections stained with Congo-red under polarized light remains the gold standard for diagnosis.…”

Macroglosia en Amiloidosis Primaria como Clave Diagnostica: Reporte de un Caso

“…Su principal complicación es la disfagia, malnutrición, disartria y compresión de vías aéreas (Demirkan et al;Oruba et al, 2018). Dentro de las patologías adquiridas que pueden causar macroglosia se encuentra la amiloidosis, una rara condición presente en un gran espectro de enfermedades que tienen en común el deposito de agregado extracelular de proteínas llamado amiloide.…”

Atypical macroglossia caused by multiple myeloma‐associated systemic amyloidosis with severe lingual movement disorder and tongue sclerosis

“…1 AL amyloidosis is generally known to be caused by a clonal population of plasma cells in the bone marrow that produce a monoclonal kappa or lambda type light chain. 2 In terms of the oral symptoms of amyloidosis, the most common site of amyloidosis is the tongue, such as in macroglossia associated with systemic AL amyloidosis. 3 In general, the difference between macroglossia and atrophy of the tongue is apparent.…”

“…Light‐chain (AL) amyloidosis is a well‐known systemic disease in which amyloid is irreversibly deposited in tissues throughout the body 1 . AL amyloidosis is generally known to be caused by a clonal population of plasma cells in the bone marrow that produce a monoclonal kappa or lambda type light chain 2 . In terms of the oral symptoms of amyloidosis, the most common site of amyloidosis is the tongue, such as in macroglossia associated with systemic AL amyloidosis 3 …”