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Published in: Graefe's Archive for Clinical and Experimental Ophthalmology 8/2013

01-08-2013 | Case Report

Conjunctival hamartoma with eosinophilia—a novel lesion in a child with PTEN hamartoma syndrome

Authors: Hardeep Singh Mudhar, Neil K Rogers

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 8/2013

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Excerpt

PTEN tumour hamartoma syndrome is now the favoured term for a condition resulting from a germline mutation of the phosphatase and tensin homologue (PTEN) gene [1], manifesting as Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome [2]. Mucosal hamartomas in PTEN hamartoma syndrome occur in the oral cavity and gastrointestinal tract. We present a novel hamartoma of the conjunctiva that we have termed conjunctival hamartoma with eosinophilia (CHE) to add to the phenotype of hamartomas that occur in this syndrome. …
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Metadata
Title
Conjunctival hamartoma with eosinophilia—a novel lesion in a child with PTEN hamartoma syndrome
Authors
Hardeep Singh Mudhar
Neil K Rogers
Publication date
01-08-2013
Publisher
Springer Berlin Heidelberg
Published in
Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 8/2013
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI
https://doi.org/10.1007/s00417-013-2406-4

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