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.
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Proteus syndrome: An update
Article first published online: 11 JUL 2005
DOI: 10.1002/ajmg.c.30063
Copyright © 2005 Wiley-Liss, Inc.
Issue
1552-4876/asset/cover.gif?v=1&s=ca8b7a20dde33705f76407666c78ae0a94d90efb "American Journal of Medical Genetics Part C: Seminars in Medical Genetics")
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Overgrowth Syndrome: An Update
Volume 137C, Issue 1, pages 38–52, 15 August 2005
Additional Information
How to Cite
Cohen, M. M. (2005), Proteus syndrome: An update. Am. J. Med. Genet., 137C: 38–52. doi: 10.1002/ajmg.c.30063
Publication History
- Issue published online: 20 JUL 2005
- Article first published online: 11 JUL 2005
- Abstract
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Keywords:
- cerebriform connective tissue nevus;
- epidermal nevus;
- vascular malformations;
- dysregulated adipose tissue;
- disproportionate and asymmetric overgrowth;
- skeletal abnormalities;
- tumors;
- lipoma;
- ovarian cystadenoma;
- meningioma;
- pulmonary embolism;
- cystic lung alterations;
- somatic mosaicism;
- diagnostic criteria;
- misdiagnosis;
- evaluation and management
Abstract
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.