Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with a wide spectrum of phenotypic expression. It is characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis.

Signs and Symptoms

BRRS is characterized by a variety of symptoms, including macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis. Other symptoms may include developmental delay, thyroid problems, and an increased risk of certain types of cancer.

Causes

BRRS is caused by mutations in the PTEN gene. This gene provides instructions for making a protein that is involved in cell signaling and regulation of cell growth. Mutations in the PTEN gene disrupt the protein's function, leading to uncontrolled cell growth and division.

Diagnosis

Diagnosis of BRRS is based on clinical features and can be confirmed by genetic testing for mutations in the PTEN gene.

Treatment

Treatment for BRRS is symptomatic and supportive. It may include regular monitoring for the development of tumors and other complications.

Prognosis

The prognosis for individuals with BRRS varies. Some individuals may have mild symptoms and a normal lifespan, while others may have severe complications and a shortened lifespan.

See Also

• PTEN hamartoma tumor syndrome
• Cowden syndrome
• Proteus syndrome

References

Bannayan–Riley–Ruvalcaba syndrome Resources
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