PATHOLOGY OF OSSEOUS AND GENITOURINARY LESIONS OF PROTEUS SYNDROME

A male patient followed from the age of 3 to 25 years was eventually d iagnosed as having Proteus syndrome. He was bent with linear epidermal nevi of the neck and forearm and presented with macrodactyly of the r ight hand and progressive hemihypertrophy of the right lower limb recu rring after multiple reduction operations. The bone ends showed disord erly overgrowth of hyaline and fibrocartilage mixed with collagen and bone, and early differential diagnoses included Oilier's disease The c hild also had vertebral anomalies, scoliosis, a bony protrusion of the cranial vertex, and strabismus. In the second decade he developed gyr iform swelling of the soles, retinopathy, bilateral papillary cysts of the epididymis, and a giant cyst of the left kidney with complex glan dular foci. At 22 years a 3-cm meningioma containing adipose tissue wa s resected, and at 24 years a 3-cm cellular nodule of the rete testis with hyperchromatic foci, probably an adenoma, was removed. The featur es of Proteus syndrome were those of hyperplasia and neoplasia of most ly mesodermal tissues. Unlike other repented cases, overgrowth of a fi nger recurred at 25 gears.