Cowden Syndrome

Cowden syndrome is a genetic syndrome of multiple hamartomas. Current nosology includes Lhermitte-Duclos disease, a condition of cerebellar dysplastic gangliocytomas with other findings characteristic of Cowden syndrome. Lhermitte-Duclos disease can be thought of as the neurological variant of Cowden syndrome. Also included is a syndrome of macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Riley-Ruvalcaba syndrome). The phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene causing Cowden syndrome is located on chromosome 10q23.31. PTEN is a widely expressed, dual-specificity phosphatase, which has actions as a tumor suppressor. The exact mechanism of PTEN action is unclear, but it may act to arrest the cell cycle and be a mediator of apoptosis.

The current criteria (published in 2000) supplant the l995 criteria, which are similar but not as inclusive. The International Cowden Consortium maintains surveillance of emerging data and knowledge to revise and update the criteria as needed.

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