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Radiologic Manifestations of Proteus Syndrome¹

¹ From the Department of Radiology, Georgetown University Hospital, Washington, DC (C.A.J.D.); Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md (J.T., L.G.B.); and Department of Radiology, Clinical Center, National Institutes of Health, Bldg 10, Room 1C-660, MSC 1182, Bethesda, MD 20892 (P.L.C.). Received October 7, 2003; revision requested November 17; revision received March 2, 2004 and accepted March 9. Address correspondence to P.L.C. (e-mail: pchoyke@cc.nih.gov).

Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. The disease process is not usually apparent at birth but develops rapidly in childhood. Common manifestations include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective-tissue nevi, and vascular malformations. The features of Proteus syndrome indicate that the condition may be caused by a somatic alteration in a gene, but no specific genetic mutation has yet been identified. Therefore, the diagnosis and management of the disease depend heavily on clinical evaluation and imaging. Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes.

© RSNA, 2004

Index Terms: Bones, abnormalities, 10.144, 40.1211, 40.1214, 40.14 • Bones, hypertrophy, 10.144, 10.916, 30.86, 40.14, 40.773, 40.862 • Extremities, abnormalities, 40.148, 46.147 • Liver, abnormalities, 761.37 • Neoplasms, diagnosis, 80.89 • Proteus syndrome • Soft tissues, neoplasms, 90.199

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