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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
NIH genetic and rare disease info[edit source]
Bannayan–Zonana syndrome is a rare disease.
| Bannayan–Zonana syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
