Abstract
PTEN hamartoma tumor syndrome (PHTS) is a multi-systemic tumor predisposition syndrome driven by PTEN germline pathogenic variant. Syndromes previously categorized based on clinical features, such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, share overlapping features and are now categorized as part of the PHTS spectrum. Its estimated prevalence is 1:200,000, however we believe it is underrecognized due to its rarity and low recognition rates. Patients may present with progressive hamartomas occurring in multiple tissues or organs: polyposis in GI tract, complex vascular malformation such as cavernous hemangiomas, cerebellar dysplastic gangliocytomas, as well as excessive quantity of various types of cutaneous lesions such as skin tags, trichilemmomas, and papillomatous papules.
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