Cowden syndrome (CS)—first described in 1963—was named after Rachel Cowden, the young woman who had the features described by the physicians, Drs, Lloyd and Denis. Cowden syndrome is not the only name used for this condition. It is also known as multiple hamartoma syndrome. Other related, but not identical, clinical conditions include Ruvalcaba-Myhre syndrome, Riley-Smith syndrome, Bannayan-Riley-Ruvalcaba syndrome, or Bannayan-Zonana syndrome.

The use of different names can be confusing. The problem started when several different groups of physicians and researchers began describing collections of features they observed in their patients. Each group believed that they were describing a new condition. Because CS consists of various features that occur at different times or not at all, the names became even more confused. Simply put, different people will show different features even though they have the same genetic condition. That was enough to make researchers at the time believe they were describing different conditions.

 In fact, scientists did not realize that all these names were describing one condition until 1986 when it was proposed that Bannayan syndrome and Ruvalcaba-Myhre syndrome were one and the same. In 1996, the overlap of features in CS and Bannayan-Riley-Ruvalcaba syndrome was recognized and molecular evidence for this observation was reported in 1997 and 1999. Since then, many names have been added to the list of syndromes. Below are several names that you may encounter as well.

• Bannayan-Zonana syndrome
• Riley-Smith syndrome
• Ruvalcaba-Myhre syndrome
• Ruvalcaba-Myhre-Smith syndrome
• Bannayan syndrome
• Cowden/Bannayan-Riley-Ruvalcaba overlap syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• PTEN Hamartoma Tumor syndrome
• Macrocephaly, pseudopapilledema, multiple hemangiomata syndrome
• Macrocephaly, multiple lipomas, hemangiomata syndrome

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