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Amyloidosis presenting as muscle pseudohypertrophy

AL amyloidosis is a rare disease secondary to extracellular deposition of light chains fragments in organs and tissues. It can cause a wide variety of signs and symptoms, being the muscular pseudohypertrophy form a very rare finding. CASE 1 - a 61-year-old female had a history of myalgia and increase of muscular mass on pelvic and scapular girdle and cervical region. Besides the generalized muscular hypertrophy and discrete macroglossia, the rest of physical examination was normal. CASE 2 - a 51-year-old male complained of tiredness and progressive cutaneous thickening on his thorax, neck and arms for the last two years. Initially, he was misdiagnosed with either scleredema of Buschke or scleroderma. In February 2007 he was referred to our service, reporting symptoms of dysphagia and difficulty to move his tongue. On physical examination, besides the skin thickness, there was an evident muscle hypertrophy out of proportion the reported exercise practice. In both cases, subcutaneous biopsy was undertaken which revealed amyloid deposit by congo red dye.

amyloidosis; muscular pseudohypertrophy


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