Mucocutaneous Manifestations of Primary Systemic Amyloidosis: A Descriptive Study from Eastern India

Primary systemic amyloidosis (PSA), also referred to as amyloid light-chain (AL) amyloidosis, is characterized by the deposition of insoluble monoclonal immunoglobulin light chains or L-chain fragments in a variety of tissues and organs of the body. There is a dearth of literature regarding the mucocutaneous manifestations of PSA in the Indian population, which prompted us to undertake the present study.

We aimed to study the clinical characteristics of mucocutaneous manifestations in patients with PSA at a tertiary care center in Kolkata.

Consecutive patients with PSA, who presented to our facility with cutaneous features were included in this cross-sectional observational study done over 4 years.

The study involved 14 patients diagnosed with systemic amyloidosis (PSA) presenting with mucocutaneous symptoms. The mean age at diagnosis was 62.8 years, with a female-to-male ratio of 2:5. Myeloma-associated primary amyloidosis was identified in 35.7%. All patients showed pinch purpura, macroglossia, and tongue ridging. Periorbital purpura was seen in 92.8%, facial purpura in 85.7%, waxy nodules in 78.5%, xerosis in 57%, and diffuse alopecia in 35.7%. Relatively rare features included thickened skin, nail dystrophy, bullous lesions, lingual and subcutaneous nodules, atrophie blanche, and cutis laxa. Macular/lichen amyloidosis was also observed in one patient each. The head and neck were universally involved (100%). Eight patients had systemic features.

The study was limited by its hospital-based design, small sample size, and lack of lesional biopsies.

PSA has a wide gamut of cutaneous features, and recognizing these skin lesions in the setting of PSA may be a significant clinical indicator of the underlying systemic illness.