Bannayan–Zonana syndrome

Bannayan–Zonana syndrome (BZS), also known as Bannayan-Riley-Ruvalcaba syndrome (BRRS), is a rare, autosomal dominant genetic disorder. It is characterized by macrocephaly, lipomatosis, hamartomatous intestinal polyposis, and pigmented macules of the glans penis.

Etiology

Bannayan–Zonana syndrome is caused by mutations in the PTEN gene, which is located on chromosome 10. The PTEN gene is a tumor suppressor gene, and its mutations are also associated with Cowden syndrome and Proteus syndrome.

Clinical Features

The clinical features of Bannayan–Zonana syndrome include:

• Macrosomia: This is characterized by an abnormally large body size or body parts. In BZS, it is often present at birth and continues into adulthood.
• Lipomatosis: This is characterized by the presence of multiple lipomas, which are benign tumors of fatty tissue.
• Hamartomatous intestinal polyposis: This is characterized by the presence of multiple hamartomas, which are benign, tumor-like growths, in the intestines.
• Pigmented macules of the glans penis: This is characterized by the presence of pigmented spots on the glans penis.

Diagnosis

The diagnosis of Bannayan–Zonana syndrome is based on clinical features and can be confirmed by genetic testing for mutations in the PTEN gene.

Treatment

There is no cure for Bannayan–Zonana syndrome. Treatment is symptomatic and supportive, and may include surgery to remove lipomas or intestinal polyps, and regular monitoring for the development of malignancies.

Prognosis

The prognosis for individuals with Bannayan–Zonana syndrome is generally good, although they have an increased risk of developing certain types of cancer, including breast, thyroid, and endometrial cancer.

See Also

• Genetic disorders
• PTEN gene
• Cowden syndrome
• Proteus syndrome

NIH genetic and rare disease info

• NIH info on Bannayan–Zonana syndrome

Bannayan–Zonana syndrome is a rare disease.

Bannayan–Zonana syndrome Resources
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