Surveillance
The signs and symptoms of Gorlin syndrome can develop and change over time. To understand and identify these changes, the care team will establish a baseline, or starting point, for each symptom in a person with Gorlin syndrome. The baseline helps you/your child and care team understand how signs and symptoms may change over time. Once the baseline tests and exams are complete, you/your child can work together with the care team to monitor your/your child’s signs and symptoms. This process of follow-up care and watching symptoms is called surveillance.
Physical exams
Full body skin examination by a dermatologist, including checking skin that is not usually exposed to the sun for BCCs and other conditions.
Physical exam for bone deformities such as macrocephaly (large head size), scoliosis (curve in the spine), rib anomalies (physical differences in the size, shape, and position of the ribs) and pectus deformity (caving in or out of the breastbone).
Imaging tests
Depending on symptoms and/or results from genetic testing, magnetic resonance imaging (MRI) of the brain to look for medulloblastoma (a type of brain tumor). An MRI machine uses magnets to create images of bones, organs and other parts inside the body. It is more common for children diagnosed with Gorlin syndrome to have an MRI.
The medical management of OKCs including the frequency and type of imaging (panorex, CT scan, or MRI) to follow over time is not well documented in the literature.
Starting at age 8 in children (or earlier) who have not had genetic testing or who have a PTCH1 genetic mutation, a digital panorex or other dental x-rays or radiographs of the jaw may be obtained to evaluate for cyst like lesions in the teeth bearing areas of the jaw to diagnose the potential for odontogenic keratocysts (OKCs, or a type of cyst found in the jawbones). A digital oral pan-tomograph (commonly called a panorex) is an x-ray that takes pictures of the face, teeth, and jaw. CT scan and magnetic resonance imaging (MRI scans) may also be used to diagnose the presence of jaw cysts. If you are not sure if this applies to you/your child, the care team will provide an opinion of the necessity of this evaluation.
Specific tests for babies
Cardiac evaluation and cardiac ultrasound to look for tumors that can affect the heart (such as cardiac fibromas)
A physical exam to check for significant birth defects and monitor head circumference
Other tests and exams
Ophthalmology exam (eye exam), including ocular pressure measurement (a test that measures the pressure of the fluid inside the eye)
Genetic testing. When possible and affordable, testing for specific genetic mutations (such as the PTCH1 and SUFU genes) can be helpful. A genetic mutation is a change in DNA, or genetic material. Health risks and screening recommendations can vary depending on which genetic mutation you/your child may carry.
Psychological exam to help create an emotional support plan