Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning.

Journal: Clinical Nuclear Medicine
Published:
Abstract

Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and specific facial anomalies. Joseph Merrick, popularly known as the Elephant Man, is now believed to have suffered from Proteus syndrome. A case of Proteus syndrome and associated findings on bone scintigraphy are presented.

Authors
U Joshi, J Van Der Sluijs, G Teule, R Pijpers