Tuberous sclerosis complex (TSC) and Klippel-Trenaunay-Weber (KTW) syndromes association of two complete phakomatoses in a single individual

Abstract

Tuberous sclerosis or tuberous sclerosis complex (TSC) and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately were associated in a 21 years old female, with no family history of similar illness presented with facial rash of reddish spots or bumps, facial angiofibroma (adenoma cebaceum), which appeared on the nose and cheeks in a butterfly distribution, and sub ependymal calcific nodules on brain CT, and multiple liver, pancreas hamartomas and multiple angiomyolipomas and cysts of both kidney on ultrasound, which is consistent with a sporadic TSC, in addition, the diagnostic triad of KTW involved the left upper limb : cutaneous naevi a vascular anomaly, soft tissue and osteohypertrophy. This is the second reported association of the fully developed symptomatology of TSC and KTW in one person in Ethiopian setting.