Tuberous Sclerosis Complex: A Classic Presentation

An 11-year-old girl presented with an insidiously evolving, reddish-brown, small, hard, elevated lesion, occupying the midsection of her face, which had been present since early childhood. There were also a few small white spots over the trunk. There was no history of seizures or visual deficit, and no burning on exposure to sunlight. There were no known congenital defect noted at birth, and her parents were nonconsanguineous. There was no significant family history. There were numerous 2- to 4-mm reddish-brown papules located symmetrically on the nose, nasolabial folds, and cheeks (Figure 1A). In addition, there was an uneven 3-cm plaque in the lumbosacral region that resembled orange peel-a shagreen patch (Figure 1B). There were also two well-defined, 5- to 10-mm, hypomelanotic, ivory-white macule(s) with irregular margins (Figure 1C). The buccal mucosa and nails were unremarkable, and indirect ophthalmoscopic and slitlamp examination of the eye was normal. Laboratory studies were unremarkable. Ultrasonography of the abdomen was normal, as were abdominal and chest x-rays.