Apolipoprotein <scp>A1</scp> amyloidosis

A 64-year-old man presented with a 3-year history of an asymptomatic facial eruption. Examination revealed numerous millimetric dome-shaped papules predominantly in centrofacial areas, especially the periorbital region, nose and cheeks. On the eyelids and conjunctiva, the papules were yellowish with a greasy appearance (Figure 1). Milder involvement was noted on the ears, axillae and the dorsum of the hands and feet. Skin biopsy showed Congo red and thioflavin T-positive deposits, consistent with cutaneous amyloidosis. Although anti-transthyretin antibody testing was positive, proteomic analysis identified apolipoprotein A1 (ApoA1) as the amyloid protein. Genetic testing confirmed the diagnosis demonstrating a heterozygous likely pathogenic variant in APOA1(c.593T>C). Systemic evaluation revealed asymptomatic hypertrophic cardiomyopathy, stable for over 2 years and possible but clinically insignificant hepatic involvement. Cutaneous manifestations of ApoA1 Amyloidosis are rarely described. Yellowish facial papules may represent a typical manifestation. No specific treatment exists, but accurate diagnosis with proteomic support remains essential to detect systemic involvement and related cases. The authors have nothing to report. None declared. Ethical approval was not required for this case report, as it describes a single clinical observation without experimental intervention. The patients in this manuscript have given written informed consent to the publication of their case details. The data that support the findings of this study are available from the corresponding author upon reasonable request.