What is Gorlin Syndrome?

Gorlin syndrome, which is also known by the name basal cell nevus syndrome, is a condition affecting the skin and potentially many other parts of the body. It is characterized by the ease at which the body forms basal cell skin cancers, usually much earlier in life and with more frequency than other people experience. There are many other potential symptoms of this condition, and it requires careful follow-up with dermatologists and other doctors, like oncologists, to prevent severe complications or to treat complications prior to becoming life-threatening. The disease is most often inherited, but sometimes it will occur spontaneously through genetic mutation during fetal formation.

The main cause of the symptoms of Gorlin syndrome is malfunctioning of the PTCH-1 gene. A properly working version of this gene helps cell growth function normally. When this gene doesn’t work, cell growth may occur too quickly, resulting in abnormal development of basal cell carcinomas or other cysts and cancers. In most cases, people with this disease inherit directly from a parent who has it, so that people with the condition have a 50% chance of passing the disease onto each of their children. In rarer instances, the PTCH-1 gene is damaged without this direct inheritance from a parent, and it should be noted that no matter how the disease arises, it is considered very rare.

In addition to the development of basal cell carcinomas that may begin during puberty, Gorlin syndrome has other symptoms, but these vary in expression in each individual. Some people develop tumors in the jaw, which are most often benign. Other tumors may develop in the brain, heart or ovaries, though not always. Some people may develop symptoms secondary to abnormal growths including seizures, blindness, or damage to heart rhythm or hearing. The condition may also be characterized by slight appearance differences, and people with Gorlin syndrome may have broader noses and more prominent foreheads, or larger heads in general, and curved spine can also be present or result from growths in the spine.

Treating Gorlin syndrome varies as to the individual. When this condition is diagnosed, people are told to avoid sun exposure and other forms of radiation exposure as from x-rays. Dermatologists evaluate skin frequently for basal cell skin cancers and remove them early before they have time to spread. Doctors then also watch patients for any possible symptoms that indicate tumors spreading elsewhere in the body. This vigilance can do much to keep the condition under control, and many people with this syndrome can have reasonable life expectancies and relatively normal lives if their condition is being followed carefully.

Sadly, not all people with this condition get to live a completely normal life or achieve full life expectancy. The degree of normality may be influenced by how severe the condition is, which isn’t always controllable. For this reason, medical researchers and those who have been diagnosed with Gorlin syndrome look to curative medical solutions being developed in the future.