Proteus syndrome: An update


  • M. Michael Cohen Jr

    Corresponding author
    • Dalhousie University, 5981 University Ave., Halifax, Nova Scotia B3H 3J5, Canada.
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    • Dr. M. Michael Cohen Jr is Professor Emeritus of Pediatrics at Dalhousie University in Halifax, Nova Scotia, Canada and Associate Editor of the American Journal of Medical Genetics. His interests include clinical genetics, pathology, and health care in developing countries. His research interests include bone disorders, overgrowth syndromes, and central nervous system anomalies. He is the author or co-author of more than 350 articles in the medical and scientific literature, author, co-author, or editor of 14 books, and author or co-author of more than 40 book chapters.


Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform connective tissue nevi; epidermal nevi; vascular malformations of the capillary, venous, and lymphatic types; and dysregulated adipose tissue. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms. Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis. Although Proteus syndrome data are consistent with this hypothesis, it has not been proven. The etiology is unknown to date. Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common. Finally, evaluation and management are discussed. © 2005 Wiley-Liss, Inc.