Unveiling Tuberous Sclerosis in a Diagnosed Patient With Systemic Lupus Erythematosus: A Rare Coincidence

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease presenting a variable clinical course ranging from mild to severe multiorgan dysfunction. While the exact etiology of SLE remains elusive, genetic and environmental factors are known to play crucial roles in its pathogenesis. Similarly, tuberous sclerosis complex (TSC) is a multisystem autosomal dominant genetic condition that manifests as benign hamartomatous proliferation in various organs. We present the case of a 46-year-old woman diagnosed with SLE who exhibited clinical features of TSC two decades after the initial diagnosis of SLE. The definitive diagnosis of TSC was made based on major clinical criteria, including facial angiofibroma and bilateral renal angiomyolipomas. As the patient remained asymptomatic without neurological complications, specific treatment for TSC was not initiated. The coexistence of SLE and TSC is exceedingly rare and has been scarcely reported in medical literature.

Keywords: angiofibroma; angiomyolipomas; mtor signalling; systemic lupus erythematosus; tuberous sclerosis complex.