Rare case of primary systemic amyloidosis: Role of dermatologists in early detection and diagnosis

Amyloidosis refers to a group of rare diseases characterized by extracellular fibrillar amyloid protein deposition. The incidence of primary systemic amyloidosis (PSA) in the United Kingdom is less than 1 per 100,000 population, and in Indonesia, PSA is extremely rare with only a few cases. Skin lesions are found in 40% of PSA cases, which usually present as periorbital ecchymoses. A 50-year-old woman presented with multiple, nonitchy, periorbital waxy papules, violaceous plaques, and ecchymosis of 3 years duration. She also presented nonpalpable purpura at other sites. Other symptoms included difficulty in swallowing, hoarseness, macroglossia and related teeth indentation, lymph node enlargement, shoulder pad sign on the right shoulder, carpal tunnel syndrome (CTS), and polyarthritis. Multiple lytic lesions, bilateral hand osteoporosis, and bilateral lung nodules were visible in the radiographic images. Serum electrophoresis indicated monoclonal gammopathy. The histopathologic evaluation of skin samples demonstrated amorphous eosinophilic masses that stained positively with Congo red and blood vessel wall thickening with erythrocyte extravasation. Some internal disorders may present with cutaneous signs that could result in an early presumptive diagnosis by dermatologists. Bilateral periorbital ecchymosis, along with signs such as macroglossia and lymph node enlargement, suggesting the involvement of other organs, could lead to the diagnosis of PSA. Other multiorgan manifestations such as shoulder pad sign, CTS, lung nodules, and monoclonal gammopathy support the diagnosis of PSA; however, the definitive diagnosis must be confirmed by histopathologic examination. The early diagnosis of PSA is a relevant factor that influences therapy outcomes and prognosis. Initiating therapy before the onset of organ failure may help in prolonging survival. Therefore, dermatologists play an important role in the diagnosis of classic PSA lesions.