Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.

There are no formal diagnostic criteria for this disease, but characteristic features include:

• macrocephaly
• lipomatosis
• dermal and deep visceral lipomas
• angiolipomas
• haemangiomata
• hamartomatous intestinal polyps most commonly in terminal ileum and in large bowel loops ⁴
• pigmented macules on the glans of the penis (speckled penis)

Musculoskeletal manifestations:

• hypotonia
• scoliosis
• pectus excavatum
• joint hyperextensibility

Women with this syndrome have a higher risk of breast cancer. Breast MRI screening is indicated in this population.

Another syndrome that can be caused by mutations in the PTEN gene is Cowden syndrome. The two syndromes probably represent a spectrum of features with considerable overlap (e.g. hamartomatous polypopsis, higher risk of certain cancers), termed PTEN hamartoma tumour syndrome. ³.