As part of the diagnosis process, a provider may ask for a genetic test to be performed on the person suspected of having Gorlin syndrome. A genetic test is a type of medical test that searches for changes in genes, chromosomes or proteins in the body to diagnose a genetic disorder or help determine the likelihood of someone developing or passing on a genetic disease.
Typically, a medical geneticist or dermatologist will perform a series of exams to determine how Gorlin syndrome is affecting the patient’s body. These include:
- An exam of the patient’s skin for basal cell carcinomas, pitting on hands and feet, areas of skin discoloration, and small cysts (milia) around the eyes and nose and elsewhere
- An exam of the face and head to identify any abnormalities of the face, skull, teeth and jaws
- An exam of the body to identify any issues with the rib cage, sternum, spine and shoulders
The health care provider may also order non-ionizing radon tests or MRI imaging of the patient’s head and body to identify any calcification in the brain, jawbone cysts/KCOTs, and bone abnormalities.
Additionally, the person may be screened for non-cancerous fibromas in the heart or ovaries as part of the evaluation for Gorlin syndrome.