Tuberous sclerosis with rare presentation of macrodactyly

Excerpt

An 11-year-old boy was diagnosed with tuberous sclerosis (TS). He also had swelling of his right thumb and radial aspect of his right wrist (Fig. 1). A radiograph of the right hand (Fig. 2) showed irregular periosteal new bone formation (arrow) involving the first metacarpal bone, the radial aspect of the second proximal phalangeal bone, and the first proximal and distal phalangeal bones. Cortical cysts were also noted (arrowhead). A soft-tissue lump was seen involving the right thumb and radial aspect of the wrist. Both T1- and T2-W MR images of the hand showed low signal intensity. This suggested that the lesion was composed of fibrous tissue.

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