Bannayan Riley Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba Syndrome

Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a rare genetic disorder characterized by multiple non-cancerous growths, developmental delays, and distinctive physical features. It is part of the PTEN hamartoma tumor syndrome (PHTS) spectrum, which also includes Cowden syndrome and Proteus syndrome.

Clinical Features

BRRS is marked by a variety of clinical features, which can vary significantly among affected individuals. Common features include:

• Macrocephaly: An abnormally large head size, often present from birth.
• Hamartomas: These are benign, tumor-like malformations that can occur in various tissues, including the skin, gastrointestinal tract, and brain.
• Lipomas: Soft, fatty lumps that grow under the skin.
• Pigmented macules on the glans penis: Dark spots that appear on the penis, which are considered a hallmark of the syndrome.
• Developmental delay: Some individuals may experience delays in reaching developmental milestones or have learning disabilities.

Genetic Basis

BRRS is caused by mutations in the PTEN gene, which provides instructions for making an enzyme that acts as a tumor suppressor. This enzyme helps regulate cell division and prevents cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the PTEN gene lead to a loss of its tumor suppressor function, contributing to the development of the characteristic features of BRRS.

Diagnosis

Diagnosis of BRRS is based on clinical evaluation, family history, and genetic testing to identify mutations in the PTEN gene. The presence of macrocephaly, lipomas, and pigmented macules on the glans penis, along with a positive genetic test, can confirm the diagnosis.

Management

Management of BRRS involves regular monitoring and supportive care. This may include:

• Surveillance for tumors: Regular screenings for potential malignancies, given the increased risk associated with PTEN mutations.
• Developmental support: Early intervention programs and educational support for developmental delays.
• Surgical intervention: In some cases, surgical removal of lipomas or other hamartomas may be necessary.

Prognosis

The prognosis for individuals with BRRS varies depending on the severity of symptoms and the presence of associated conditions. With appropriate management and surveillance, many individuals can lead relatively normal lives.

Also see

• PTEN hamartoma tumor syndrome
• Cowden syndrome
• Proteus syndrome
• Genetic disorders