Gorlin syndrome, which is also known as nevoid basal cell carcinoma syndrome, is a genetic condition that causes the appearance of multiple basal cell carcinomas all over the body, even without excessive sun exposure. Not just sunlight but X-rays and other forms of radiation can trigger basal cell carcinoma formation in people who have this condition. The condition also causes abnormalities of bone, the genitourinary system, and the nervous system. People who have Gorlin syndrome are also more likely than most to be born with syndactyly, a condition in which fingers or toes are joined together lengthwise.
Gorlin syndrome is caused by a mutation in the PTCH gene, which regulates the "hedge-hog signaling pathway." Ordinarily the PTCH gene keeps this pathway from being used to create proteins that increase cell growth. When the PTCH gene doesn't work properly in Gorlin syndrome, however, abnormal growth can occur all over the body, especially in response to radiation.
PTCH gene mutations can occur in any race, but the basal cell carcinomas are more numerous on white skin. People of Asian descent who have the syndrome usually get basal cell carcinomas much later in life, after the age of 20, and people of African descent who have the syndrome usually get far fewer basal cell carcinomas that people of other races.
There are medical treatments for both the skin and systemic effects of this disease. A drug called vismodegib (Ervidedge) is used to interrupt the hedge-hog pathway. It should greatly reduce the effects of the disease all over the body, although the rules in the USA only permit it to be prescribed for metastatic basal cell carcinoma. It can cause some serious side effects (hair loss, severe fatigue) after about a month of use, but it usually causes a dramatic reduction in the size and number of tumors. There is another, related, medication called sonidegib (Odomzo) that gets similar benefits in treating tumors, but which also causes hair loss, changes in taste perception, muscle damage, kidney damage, and diabetes.
Aside from these relatively new (and extremely expensive) treatments, there are a few things people who have Grolin syndrome can do to minimize problems:
- Visit the dermatologist every two to three months to make sure that tumors are treated as soon as possible.
- Avoid exposure to radiation of any kind. In Grolin syndrome, the body overreacts to radiation. This means therapeutic radiation and CT scans, MRIs, excessive x-rays, cell phones, high-intensity lighting systems, and sunlight.
- Make sure the doctor treating you for basal cell carcinoma knows that you have Grolin syndrome so he or she will use techniques that keep scarring to a minimum. You may have hundreds or even thousands of basal cell carcinomas removed during your lifetime. It's usually better for the doctor to use cutterage than electrocautery, and to keep reconstruction of tissue near the site of tumor removal simple, because there is likely to be another tumor in the same location at some time.
- Skin tags (acrochordons), which appear on the face, neck, and trunk of children who have the disease, are sometimes safely treated with light electrocautery, that is, they are burned off, without long-term scarring.
- Some doctors will use the acne medication tazarotene (Tazorac) to treat basal cell carcinomas. This medication stimulates the growth of healthy skin underneath the basal cell carcinoma to bring it to the surface. In the US, this use of the medication is not covered by most insurance.
- Join a support group. The Nevoid Basal Cell Carcinoma Life Support Network is active on Facebook, and is a good source of information about new drugs and where to find specialists.
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