Bannayan-Riley-Ruvalcaba Syndrome
A Guide for patients and their families
Diagnosis
Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Peer Review Status: Internally reviewed by the authors
First Published: 2002
Last Revised: 2002
How is Bannayan-Riley-Ruvalcaba Syndrome Diagnosed?
Bannayan-Riley-Ruvalcaba Syndrome traditionally has been diagnosed based on clinical findings of macrocephaly (large head), lipomas, hemangiomas, and penile freckling. Currently, some believe that BRR can be clinically diagnosed by using the criteria for the operational diagnosis of the genetically related Cowden Syndrome. These criteria were established by the International Cowden Syndrome Consortium and were actually designed to establish an outline for diagnosing Cowden Syndrome, a very closely related syndrome. Because these two syndromes are so similar the same criteria for diagnosis may be used, but additional features more specific for Bannayan-Riley-Ruvalcaba syndrome, such as hemangiomas and lipomas, are considered when diagnosing BRR.
The consortium grouped the various features of these syndromes into three categories: the pathognomonic criteria, the major criteria, and the minor criteria. Pathognomonic criteria are the most typical features of a condition. The major and minor criteria consist of related features that are not as specific. The categories help to define when a patient really has this condition instead of something that may have similar features. Your doctor, or a genetic specialist, can look at the features you have and compare them to this outline of diagnostic criteria when deciding if either of these syndromes are a likely possibility.
An individual does not need to have all the features in every category to be a diagnosed with BRR, nor does someone necessarily have BRR when they have only one feature from any or all of the categories. When making this diagnosis, it is more important to look at the overall picture and the combined list of features an individual experiences over time.
The Category Breakdown
Pathognomonic criteria
Mucocutaneous lesions
Facial trichilemmonas
Acral keratoses
Papilomatous lesions
Mucosal lesions
Major criteria
Breast cancer
Thyroid cancer
Macrocephaly
Lhermitte-Duclos disease
Endometrial carcinomas
Minor criteria
Other thyroid diseases
Mental retardation
Gastrointestinal harmartomas and tumors
Fibrocystic Breast Disease
Lipomas
Fibromas
*International Cowden's Syndrome Consortium. Operational Criteriaq for the e Diagnosis of CS. Dal, M. NCCN practice guidelines: Genetics/familial high-risk cancer screening. oncology 1999; 13:161-86.
*Eng, C., Peacocke M. PTEN and inherited hamartoma-cancer syndromes. Nat Genet 1008: 19: 233
*Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria J Med Genet. 2000;37:828-830
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