Published in:
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. …