Macroglossia and Amyloidoma of the Buttock: Evidence of Systemic Involvement in Dialysis Amyloid

Abstract

A 48-year-old male on cuprophane haemodialysis for 18 years, with a history of dialysis arthropathy and recurrent carpal tunnel syndrome developed macroglossia and bilateral buttock tumoral masses. The tongue and buttock masses were biopsied. Histology of both biopsies showed amyloid deposits of the β₂-microglobulin (B2M) variety. Amyloidomas in the gluteal region and macroglossia have not been previously described in amyloid derived from B2M. These findings suggest that systemic B2M amyloidosis can have a similar tissue distribution to AL amyloidosis. This case also stresses the importance of inspection of the tongue, and palpation of the gluteal region for masses, in the assessment of patients with dialysis arthropathy.

Dialysis-related amyloidosis: challenges and solutions

“…Macroglossia is a suspicious sign for gastrointestinal involvement. 33 b2M amyloid could be potentially deposited everywhere (ie, in the rectal mucosa, liver, spleen, and blood vessels), but cardiac involvement is the most fearsome because of congestive heart failure and fatal arrhythmias. It is to be considered that cardiac involvement is frequent in AL amyloidosis, but is rare in b2M amyloidosis as well as in AA amyloidosis.…”

Symmetrical and Bilateral Tibiofibular Cysts in a Hemodialysed Patient: A Cutaneous Manifestation of Dialysis-Related Amyloidosis?

“…Massive deposition of ␤ 2 -microglobulin amyloid in the subcutaneous fat tissue of the buttocks has only been described in 6 case reports in the dermatological literature [1,4,[14][15][16][17] . Macroglossia and lingual papules and nodules have hardly ever been described [18,19] .…”

Beta-2-Microglobulin-Associated Amyloidosis

“…AP2M amyloidosis can also manifest in dialysis pa tients with subcutaneous tumorous deposits [63][64][65][66], while diffuse infiltration of the subcutaneous fat or skin are not usually present [ 18,33,67,68].…”

“…In cases with systemic involvement, the amyloid is lo cated in the walls of small blood vessels of the gastrointes tinal tract, lung, heart, liver, tongue, endocrine organs, brain and within the stroma of the prostate and testes [3,18,31,33,63,[68][69][70][71][72][73][74][75][76] as well as in the parathyroid glands (this case). Case reports of systemic, clinical manifesta- tions amongst others have described heart failure, cecal perforation, gastrointestinal bleeding and pseudo-ob struction, persistent diarrhea, macroglossia, and renal cal culi [4,69,[73][74][75][76][77][78],…”