Three of four children had calvarial lesions, with involvement of the bony orbit in one, and large abscesses were present in the chest wall and the mediastinum of another. Lesions along the dorsal spine were demonstrated in three cases, two of which showed epidural extensions. Bone lesions in the thoracic cage accompanying those in the spine were also seen in two children, one of whom had a solitary destructive focus in a rib distant from the site of vertebral involvement. Bone lesions involving the first metacarpal in one case and the scapular wing in two others are also described. The diagnosis in each of the cases was confirmed by the identification of epitheloid giant cells and caseous necrosis or tubercle bacilli in fine needle aspirates or on tissue culture studies.
The protean manifestations of the tuberous sclerosis complex have lent this condition to extensive review in textbooks and in the medical literature. This condition generally presents by virtue of its neurological manifestations. Osseous stigmata, when encountered, are generally asymptomatic and do not require specific treatment owing to their benignity. We present the case of a young man with a slowly enlarging facial swelling for whom cosmetic surgery was considered. The swelling, present since childhood, had in time assumed disfiguring proportions. In what was hitherto considered an isolated facial deformity, a skull radiograph followed by CT revealed neurological stigmata of tuberous sclerosis. A large cerebellar hamartoma, proliferative soft tissue in the scalp adjacent to focal hyperostosis of the calvarium and the accompanying hemifacial changes seen in this patient constitute less commonly described features of tuberous sclerosis.
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