Proteus syndrome: An update

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 en...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2005-08, Vol.137C (1), p.38-52
Main Author: Cohen Jr, M. Michael
Format: Article
Language:English
Subjects:
cerebriform connective tissue nevus
cystic lung alterations
Diagnosis, Differential
diagnostic criteria
disproportionate and asymmetric overgrowth
dysregulated adipose tissue
epidermal nevus
evaluation and management
Humans
lipoma
meningioma
misdiagnosis
Mosaicism
Nevus - genetics
ovarian cystadenoma
Proteus Syndrome - complications
Proteus Syndrome - diagnosis
Proteus Syndrome - genetics
Proteus Syndrome - therapy
pulmonary embolism
skeletal abnormalities
somatic mosaicism
tumors
vascular malformations
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Summary: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.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.30063