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
