Tuberous sclerosis and Klippel Trenaunay Weber syndromes. Association of two complete phakomatoses in a single individual

Abstract

Tuberous sclerosis and Klippel Trenaunay Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 yr old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumor and an arteriovenous malformation of the leg. This is the first reported association of the fully developed symptomatology of tuberous sclerosis and KTW in one person.