Intersection of two rare conditions: Clinical reflection on tuberous sclerosis combined with primary lymphedema.

Abstract

This editorial discusses a case report recently published in the World Journal of Clinical Cases. The report describes the clinical presentation, imaging, diagnosis, and treatment of a patient with tuberous sclerosis complex (TSC) combined with primary lymphedema (PLE). Additionally, it retrospectively analyzes the data of 16 previously reported cases of children with TSC combined with PLE to summarize the epidemiology, genetic diagnosis, and current main treatments of these patients. The report also speculates on the pathological and physiological mechanisms underlying TSC combined with PLE. TSC combined with PLE is rare; therefore, the report provides a theoretical basis for understanding the pathophysiological mechanisms and treatment options for patients with TSC and PLE. Comprehensive clinical management of TSC is essential due to the diverse and multiorgan nature of its manifestations, often requiring a multidisciplinary approach for newly diagnosed cases.