Multiple hamartoma syndrome; PTEN hamartoma syndrome
This is an autosomal dominant condition with hamartomatous lesions in various organs, including the GI tract, with an increased risk of malignancy in extraintestinal organs such as the breast and thyroid. There does not seem to be sufficient evidence to render a causal relationship between Cowden’s syndrome (CS) and GI cancer. It is part of the PTEN hamartoma tumor syndrome also including Bannayan–Riley–Ruvalcaba, Proteus, and Proteus-like syndromes.
This syndrome can be characterized by hamartomatous lesions of the skin (trichilemmoma is the classical lesion), benign breast lesions, uterine leiomyomas, macrocephaly, mental retardation, and Lhermitte–Duclos disease of the cerebellum, each being present in varying rates.
References and Further Reading
- Nelen, M. R., Padberg, G. W., Peeters, E. A., Lin, A. Y., van den Helm, B., Frants, R. R., Coulon, V., Goldstein, A. M., van Reen, M. M., Easton, D. F., Eeles, R. A., Hodgsen, S., Mulvihill, J. J., Murday, V. A., Tucker, M. A., Mariman, E. C., Starink, T. M., Ponder, B. A., Ropers, H. H., Kremer, H., Longy, M., & Eng, C. (1996). Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics, 13, 114–116.PubMedGoogle Scholar