Walsh & Hoyt: Associations

It is rare for patients with the stigmata of tuberous sclerosis to also have clinical signs more commonly associated with one of the other phacomatoses. Nevertheless, Troost et al. described a 41-year-old woman with adenoma sebaceum, seizures, retinal hamartomas, mental retardation, and avascular masses in the liver, spleen, and kidneys. This patient also exhibited features of Klippel-Trenaunay-Weber syndrome in her left leg, including cutaneous capillary angiomas, superficial venous varicosities, an AVM, and hypertrophy. Schwartz et al. described a patient with numerous features of TSC who also had an intraretinal peripapillaryangioma similar to those observed in patients with von Hippel-Lindau disease.