What is Phakomatous Choristoma?

Phakomatous Choristoma is an extremely rare congenital (present at birth) tumor in the eyelid, orbit of the eye or both. The tumor is benign (not cancer). The first recorded case of Phakomatous Choristoma was in 1971. It is likely that cases existed before 1971, but were diagnosed as another type of tumor. {The American Journal of dermatopathology. (2000) }

Phakomatous Choristoma is also known as a Zimmerman-tumor named after the doctor Lorenz Zimmerman. Dr. Lorenz Zimmerman was the first doctor to recognize Phakomatous Choristoma as a specific type of tumor.

Phakomatous Choristoma is a tumor that is made out of ectodermal cells. Ectodermal cells normally develop into the crystalline lens of the eye. The crystalline lens is a transparent membrane in the eye that is responsible for approximately forty percent of the eyes ability to focus. In the case of Phakomatous Choristoma, some of the ectodermal cells develop into a tumor.

Phakomatous Choristoma is most often diagnosed in newborns but is sometimes not noticed until the patient is an older infant. It is usually diagnosed after redness or swelling of the eye area is noticed. Treatment for the tumor is surgical removal. After the removal of the tumor, it is analyzed by a lab. The lab makes a diagnosis of Phakomatous Choristoma if they discover the tumor consists of ectodermal cells.

The outcome of Phakomatous Choristoma after surgical removal is very good. Out of the studied cases, there does not appear to be any defects of the eye after surgery, vision is not adversely affected and there does not appear to be any recurrence of the tumor.

There have been very few reported cases of Phakomatous Choristoma, so statistics and research are limited. It is likely that there have been more cases than reported. It is believed that cases of Phakomatous Choristoma have been misdiagnosed due to the fact that in the past not a lot of literature existed on this specific tumor. Many doctors simply had never heard of Phakamatous Choristoma. In addition, many doctors diagnosed the tumor as a simple cyst and did not have the tumor examined at a lab. With papers being published on Phakamatous Choristoma, doctors are now aware of the condition and it is common procedure to have lab tests done on the tumor which leads to a proper diagnosis.

If you notice redness or swelling of your' babies eyes, don't panic. Phakomatous Choristoma is extremely rare. Other conditions like pink eye, allergies, colds or dirt in the eye can cause redness or swelling. If your' baby does have these symptoms, it is always a good idea to have them looked at by a doctor. Dermatologists, ophthalmologists and general practitioners can all make the diagnosis of Phakomatous Choristoma.