Abstract

Proteus syndrome is a complex and highly variable disorder comprising malformations and overgrowth of multiple tissues. We present a 65-year-old Japanese man who had multiple spinal meningiomas and accompanying neural symptoms. His right leg showed hypertrophy with cerebriform connective-tissue naevus on the sole, and macrodactyly. Chest computed tomography imaging revealed mild cystic and emphysematous lung changes, which were possibly related to Proteus syndrome. Otherwise, he had no particular cutaneous, musculoskeletal or visceral involvements. Because of the rather insignificant clinical features, he had not been accurately diagnosed in the past and yet had survived to this age. In particular, the presence of spinal meningiomas as an exceptional complication was sufficiently confusing to consider that he had neurofibromatosis. Doctors should be familiar with the diverse clinical pictures of this rare syndrome for its correct diagnosis and proper management.

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