Men and women with CS have about a three to 10 percent lifetime risk for developing thyroid cancer (compared to one percent for an average risk person). Studies have suggested that uterine (endometrial) cancer is also increased in CS, with a risk currently estimated at six to eight percent (compared to about 2.5 percent in women with average risk). Only two men with CS have been reported with breast cancer, so it is not clear if men with CS have an increased risk for developing breast cancer. It is also common for women with CS to eventually develop cancer in both breasts. This is compared to a risk of about 12 percent for women without CS. About 30-50 percent of women with CS will develop breast cancer, often at a much younger age than average. The breast, thyroid and uterus are the most common sites for cancer development in CS. Less commonly seen are benign fatty tumors (lipomas), blood vessel growths (hemangiomas), and other changes. Women are at increased risk for benign breast conditions, such as ductal hyperplasia, papillomatosis, fibrocystic breast disease, or fibroadenomas. Thyroid adenomas, goiter, and nodules are also seen at increased frequency. CS is also often associated with a large head size (macrocephaly) and hamartomatous polyps of the small and large intestine.
Proteus syndrome photos skin#
The most consistent features of CS are small flesh-colored bumps on the skin involving a hair follicle (trichilemmomas) and small wart-like growths (papillomatous papules) on the face, hands and mouth. Below are several other names that you may encounter as well.Ĭowden syndrome is a hereditary condition which causes multiple types of benign tissue overgrowth (called hamartomas) and a risk of breast, thyroid, and uterine cancers. Since then, many names have been added to the list of related syndromes.
In 1996, the overlap of features in CS and Bannayan-Ruvalcaba-Riley syndrome (BRRS) was recognized and shortly after it was shown that CS and BRRS were caused by harmful changes (called mutations) in the same gene. That was enough to make researchers at the time believe they were describing different conditions. Because CS consists of various features that occur at different times, or not at all, different people will show different features even though they have the same genetic condition. Each group believed that they were describing a new condition. The problem started when several different groups of physicians and researchers began describing collections of features they observed in their patients. The use of different names can be confusing. Other related, but not identical, conditions include Bannayan-Ruvalcaba-Riley syndrome, Ruvalcaba-Myhre syndrome, Riley-Smith syndrome, or Bannayan-Zonana syndrome. It is also known as the PTEN hamartoma syndrome (PHTS), or less commonly as the multiple hamartoma syndrome. However, Cowden syndrome is not the only name used for this condition. That's not the name my doctor gave meĬowden syndrome (CS)–first described in 1963–was named after Rachel Cowden, the young woman who had the features reported. If you see an unfamiliar term, please see the Glossary of Terms.
It does not replace regular medical care or discussions with your health care team. This material supplements information provided by physicians, nurses, genetic counselors, and other members of your health care team about Cowden syndrome.