By Gary M. White, MD

The overgrowth syndromes are a rare, heterogeneous group of disorders characterized by excessive tissue and PTEN mutations. Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome are key diseases in this category and many consider them the same disease.

Mutations in the PI3K/Akt/mTOR signaling pathway or in the upstream negative regulator PTEN cause various overgrowth disorders that may involve the skin.

Clinical Features


PTEN hamartoma tumor syndrome


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