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CC BY 4.0 · Glob Med Genet 2023; 10(04): 345-347
DOI: 10.1055/s-0043-1777275
Case Report

Early is Better: Report of a Cowden Syndrome

A. Di Nora
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
G. Pellino
2   Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy
,
A. Di Mari
3   Department of Radiology, University of Catania, Catania, Italy
,
F. Scarlata
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
F. Greco
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
P. Pavone
1   Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
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Funding None.
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Abstract

In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden syndrome is one of these rare causes; it is an autosomal dominant genodermatosis characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origin. It is caused by loss of function mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23.1 Loss of function of the PTEN gene contributes to overgrowth and risk for a variety of cancers including breast, thyroid, endometrium, skin, kidneys, and colon. The early diagnosis of Cowden disease allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.

Keywords

overgrowth syndrome - PTEN gene - neuroimaging

Ethical Approval

This study was conformed to the ethical guidelines of Declaration of Helsinki. Written informed consent was obtained from the patient for publication of this case report and any accompanying images.


Authors' Contributions

Each author committed a substantial contribution to the conception or design of the work and to revise it critically for important intellectual content. In addition, each author approved the final version to be published. Conversely, each author agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.




Publikationsverlauf

Artikel online veröffentlicht:
27. November 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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