Cowden Syndrome: That's Not the Name My Doctor Gave Me

Cowden syndrome (CS)--first described in 1963--was named after Rachel Cowden, the young woman who had the features reported. However, Cowden syndrome is not the only name used for this condition. It is also known as the PTEN hamartoma syndrome (PHTS), or less commonly as the multiple hamartoma syndrome. Other related, but not identical, conditions include Bannayan- Ruvalcaba-Riley syndrome, Ruvalcaba-Myhre syndrome, Riley-Smith 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, 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 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. Since then, many names have been added to the list of related syndromes. Below are several other names that you may encounter as well.

  • Ruvalcaba-Myhre-Smith syndrome
  • Bannayan syndrome
  • PTEN Hamartoma Tumor syndrome
  • Autism disorders with macrocephaly
  • Proteus-like syndrome

Robert Pilarski, MS, CGC, MSW, LSW Ohio State University
Joy Larsen Haidle, MS, CGC, Humphrey Cancer Center
Heather Hampel, MS, CGC, Ohio State University

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