Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and...

This case report describes a 52-year-old man who presented with gradually progressive dark cutaneous discoloration over the upper trunk and periorbital region, accompanied by painless enlargement of the tongue, which initially interfered with speech and eating. Over the subsequent months, he experienced marked unintentional weight loss, persistent fatigue, and symptoms consistent with autonomic involvement, including postural dizziness and altered bowel habits. Clinical examination revealed waxy skin changes and macroglossia. Laboratory evaluation demonstrated a monoclonal light-chain abnormality, and additional testing identified abnormal serum protein bands and Bence-Jones protein in urine. Cross-sectional imaging showed hepatosplenomegaly without focal lesions, and biopsy of the abdominal fat pad confirmed amyloid deposition. Based on the constellation of clinical, laboratory, imaging, and histopathologic findings, a diagnosis of systemic amyloid light-chain (AL) amyloidosis was established. The patient was initiated on bortezomib and dexamethasone chemotherapy targeting abnormal light-chain production, following which he exhibited progressive improvement in dermatologic changes, reduction in tongue size, improved energy levels, and stabilization of autonomic symptoms. This case underscores an atypical dermatologic onset of systemic AL amyloidosis, in which skin and tongue abnormalities preceded other systemic manifestations, enabling timely diagnosis and intervention.