Diagnosis

How Gorlin syndrome is diagnosed:

In general, Gorlin syndrome is diagnosed when a child or adult has at least two major criteria (symptoms or signs) of Gorlin syndrome and one minor, OR one major criterion and at least three minor criteria.

What is Gorlin Syndrome?

Major criteria (symptoms) of Gorlin syndrome:

Two or more basal cell carcinomas (BCCs) that appear prior to age 30
Jawbone cysts called keratocystic odontogenic tumors (KCOTS)
Small dots or pits on the palms and soles
Calcified falx cerebri or calcium deposits in the brain
A family history of Gorlin syndrome
Medulloblastoma, a malignant brain tumor in children

Minor criteria (symptoms) of Gorlin syndrome:

Large head size and protruding forehead
Cleft lip or palate, extra fingers or toes
Abnormally shaped ribs or bones in the spine
Eye problems such as cataracts, small eyes, or tumors in the iris
Benign fibrous tumors in the ovaries or heart
Abdominal cysts
Calcified ovarian cysts

Genetic testing

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.

What to bring to your first appointment

If you suspect you or your loved one may have Gorlin syndrome, make an appointment with your health care provider.

To help your health care provider better understand your medical situation, bring the following information to your first appointment.

A detailed health history that captures:

Any skin problems
Any birth defects such as large head size, hydrocephalus, undescended testicles, or a hernia, cleft palate
Height/weight through childhood as compared to siblings
Any malignant childhood brain tumors
Any heart or fertility issues
Excessive exposure to the sun, farm chemicals and radiation
History of family members who may also have Gorlin syndrome