Proteus syndrome: a rare cause of hemihypertrophy and macrodactyly on bone scanning.
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.
Joshi
U
U
Department of Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.
van der Sluijs
J A
JA
Teule
G J J
GJ
Pijpers
R
R
D002648:Child; D004164:Diphosphonates; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging*; D005877:Gigantism / Q000000981:diagnostic imaging*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging*; D008297:Male; D016715:Proteus Syndrome / Q000000981:diagnostic imaging*; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D017556:Technetium Compounds
D004164:Diphosphonates; D019275:Radiopharmaceuticals; D017556:Technetium Compounds; C029045:technetium Tc 99m diphosphonate