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Updated: May 19, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[AA amyloidosis with cutaneous manifestations. Report of one case]
Félix Fich S1, Marco Chahuán Y, Ma Magdalena Farías N
1Departmento de Dermatología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. felixfich@gmail.com
Background:
Systemic amyloidosis is a rare disease that can affect any organ. Its clinical manifestations are varied and nonspecific. The skin involvement of this disease is common and can be easily recognized on physical examination. We report a 57-year-old male presenting with a two years history of malaise, dyspnea and myalgias. On physical examination, ungueal dystrophy, orange pigmentation of eyelids with periocular petechiae and mild macroglossia were observed. Incisional biopsies of the eyelids, cheeks and hands were obtained. The pathological study demonstrated amyloid deposits. Since protein electrophoresis was normal, the diagnosis of AA amyloidosis was postulated.
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