Proteus syndrome: A case report and review of the literature

Ou,Minglin; Sun,Zhaojun; Zhu,Peng; Sun,Guoping; Dai,Yong

doi:10.3892/mco.2017.1140

March-2017 Volume 6 Issue 3

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March-2017 Volume 6 Issue 3

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Case Report

Proteus syndrome: A case report and review of the literature

Authors:
- Minglin Ou
- Zhaojun Sun
- Peng Zhu
- Guoping Sun
- Yong Dai
View Affiliations / Copyright

Affiliations: Guangxi Key Laboratory of Metabolic Diseases Research, Central Laboratory of Guilin No. 181 Hospital, Guilin, Guangxi 541002, P.R. China, Clinical Medical Research Center of Shenzhen People's Hospital, The Second Clinical Medical College, Jinan University, Shenzhen, Guangdong 518020, P.R. China, Laboratory Center, Shenzhen Pingshan People's Hospital, Shenzhen, Guangdong 518118, P.R. China
Pages: 381-383
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Published online on: January 23, 2017

https://doi.org/10.3892/mco.2017.1140
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Abstract

Proteus syndrome is a rare complex syndrome involving clinical presentation with atypical skeletal growth. Only a limited number of cases with this syndrome have been reported in the literature to date. We herein report the case of a Chinese male patient with Proteus syndrome and review the clinical and molecular characteristics of this disease. The patient was a 34‑year‑old man with clinical manifestations suggestive of the Proteus syndrome, including mosaic distribution of the lesions, sporadic occurrence, progressive course, disproportionate overgrowth of the legs, epidermal nevi, lipomas, venous malformations and characteristic facial phenotype. Genetic mosaicism, such as mutations involving the phosphoinositide 3 kinase‑AKT pathway in the affected tissues, may be important causes of Proteus syndrome. In the present case, samples from the affected tissues were collected from the patient and were further analyzed using whole‑exome sequencing. However, no mutation of the genes reportedly associated with Proteus syndrome was identified in the affected tissues. Proteus syndrome is a complex mosaic disorder with a number of variable characteristics. Although activating AKT1 mutations have been found to be associated with this disorder, the molecular etiology remains to be fully elucidated and diagnostic criteria must be established in the clinical setting.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Proteus syndrome: A case report and review of the literature

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