Lowest Prevalence

Lowest Prevalence – Manifestations of BCCNS

Diagnostic Findings in Adults – 14% of less frequency

Source: Robert J Gorlin, M. Michael Cohen, Jr., Raoul C. M. Hennekam. Gorlin’s Syndrome of the Head and Neck, 4th Edition. Pages 444-453. New York, New York: Oxford University Press, 2001.

Medulloblastoma

Associated Terms: malignant brain tumor

What is a medulloblastoma?
Medulloblastoma is a malignant brain tumor that grows quickly. It is seen most often in children. In the general population, this tumor usually appears around age 7-8 but, in those with BCCNS, it may develop in the first two years. More boys with BCCNS develop this tumor than girls (3:1).

What You Should Know
Symptoms of medulloblastoma include headache, vomiting, nausea, sleepiness, and difficulty with coordination. There could be changes in behavior, appetite, as well as unusual eye movements.

The diagnosis is made by CT scan or MRI of the brain. Once diagnosed, patients should be seen by a neurosurgeon and possibly an oncologist as soon as possible.

When discussing treatment options, it is important to recognize that the use of radiation therapy may induce the growth of multiple basal cell carcinomas in patients with BCCNS. The risks and benefits of each treatment option should be considered carefully.

Additional Resources
http://www.abta.org/brain-tumor-information/types-of-tumors/medulloblastoma.html
http://omim.org/entry/109400?search=medulloblastoma&highlight=medulloblastoma

Ocular Hypertelorism

Associated Terms: hypertelorism

What is Ocular Hypertelorism?
Ocular hypertelorism is a wide distance between the eye sockets, therefore the eyes.

What You Should Know
Occasionally, hypertelorism can cause visual problems, but usually this is not the case.

Additional Resources

Meningioma

Associated Terms: None

What are meningiomas?
Meningiomas are generally slow growing, benign brain tumors that come from the covering of the brain and spinal cord. These do not grow from the brain tissue itself.

What You Should Know
Symptoms of meningiomas vary depending on the location of the benign tumor. They may include headache, weakness of an arm or leg. Less common signs of this brain mass include personality changes, seizure, and visual difficulties.

Once diagnoses via a CT scan or MRI of the brain, patients should be seen by a neurosurgeon, and any other physicians that are advised.

Additional Resources

Lymphomesenteric Cysts

Associated Terms: None

What are lymphomesenteric cysts?
Lymphomesenteric cysts are benign tumors of the abdomen that can cause belly pain, and when extensive or large, bowel obstruction.

What You Should Know
If abdominal pain develops, seek care. The medical professional should be advised that the patient has BCCNS and that this is a rare manifestation of the syndrome. Appropriate studies that may include abdominal ultrasound, MRI, or CT scan may be needed. If necessary, the patient should be seen by a general surgeon.

Additional Resources

Cardiac Fibroma

Associated Terms: cardiac fibromatosis

What are cardiac fibromas?
Cardiac fibromas are benign tumors of the heart. These tumors usually occur in infants and children.

Some individuals with these tumors have no symptoms, others have heart rhythm problems, and in the least fortunate, this can cause death.

What You Should Know
If diagnosed with cardiac fibroma, urgent evaluation by a cardiac surgeon and cardiologist is necessary.

Additional Resources

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