Definition
Cowden syndrome is a hereditary multisystem disease inherited in an autosomal dominant fashion, characterized by hamartomatous overgrowth in mucocutaneous tissue, the gastrointestinal tract and the thyroid gland. In addition, increased risk of developing a number of different malignancies (e.g., breast, thyroid, and endometrial) with or without neurodevelopmental abnormalities may occur. The syndrome was first described in 1963 by Lloyd and Denis who recognized manifestations in a single family; subsequent to this, other manifestations and affected families were recognized. Germline mutations in the phosphatase and tensin homolog (PTEN) gene were first reported in 1997. There are also some affected patients with characteristic features of the syndrome including the cancers associated with this condition; however, they do...
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References and Further Reading
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Pakbaz, S., Hodgson, A., Mete, O. (2020). Cowden Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5217-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_5217-1
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