Basal Cell Nevus Syndrome and Treatment

Instructor: Danielle Haak

Danielle has a PhD in Natural Resource Sciences and a MSc in Biological Sciences

Basal cell nevus syndrome is a genetic condition affecting many parts of the body. Symptoms usually appear during childhood or young adulthood. This lesson will discuss the cause, symptoms, and treatment options.

What Is Basal Cell Nevus Syndrome?

You've probably been told many times to wear sunscreen to decrease your risk of skin cancer. If you have a rare genetic disorder, this will apply even more so, as your chances of skin cancer from sun exposer are even higher.

Basal cell nevus syndrome is a genetic disorder that affects many parts of the body, including the skin, endocrine system, nervous system, eyes, and bones. It has many other names too, including Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome (NBCCS).

People with basal cell nevus syndrome have a higher risk of developing different types of cancer, especially skin cancer. Let's take a closer look at the specifics of this condition.

Causes

Basal cell nevus syndrome is caused by an abnormality of a specific gene, the PTCH1 gene, to be exact. The role of the PTCH1 gene is to regulate how quickly cells multiply, but in people with basal cell nevus syndrome, the PTCH1 gene malfunctions, allowing cells to multiply too quickly. As a result, tumors form, many of which may be cancerous. If a parent is a carrier, their offspring has a 50% chance of developing the condition.

Symptoms

So we know that this condition is the result of irregular cell growth, but what does this mean for a patient?

Cancer

Most commonly, this irregular cell growth causes basal cell carcinoma (a type of skin cancer) during childhood. In fact, this is the most common type of cancer that leads to diagnosis. These skin cancers are usually found on the face, chest, or back.

Noncancerous Tumors

Interestingly, tumors may develop on the jaw during childhood, usually stopping by the age of 30. These tumors are most often non-cancerous and are called keratocystic odontogenic tumors. Regular removal is necessary, though they can still cause crowding of the teeth.

Basal cell carcinomas, like the one seen here, are common in people with basal cell nevus syndrome.
basal cell carcinoma

Other types of cancer that may develop include medullablastoma (a type of brain cancer), breast cancer, non-Hodgkin's lymphoma, and ovarian cancer.

Noncancerous Tumors

Interestingly, tumors may develop on the jaw during childhood, usually stopping by the age of 30. These tumors are most often non-cancerous and are called keratocystic odontogenic tumors. Regular removal is necessary, though they can still cause crowding of the teeth.

Physical Abnormalities

Basal cell nevus syndrome can also cause physical abnormalities to develop, such as cleft palate, wide-set eyes, a large head, spinal malformations, jaws that stick out farther than usual, a dominant brow, and a broad nose. Intellectual impairments may develop as a result of the abnormal growth, especially if the nervous system is affected.

Nervous System Malfunction

If the condition is severe enough to affect the nervous system, a host of symptoms may develop, like blindness, deafness, and seizures.

In addition, frequent fractures, skin damage, and scarring are common when the syndrome affects the bones and skin's surface.

Treatment

Now that you have a better idea of what basal cell nevus syndrome does to a patient's body, you might be wondering, 'how is it treated?' If it's already known that a child has the genetic disorder affecting the PTCH1 gene, regular screenings by a dermatologist (a doctor that specializes in the skin and skin disorders) is recommended. The earlier skin cancer is detected, the more easily it can be treated. Basal cell nevus syndrome isn't preventable, and the efficacy of any type of treatment depends on how early the cancer is caught.

Because skin cancer is the most common type in people with basal cell nevus syndrome, let's take a closer look at some of the treatment options for it. A cancerous area may be cut off of the body, in a procedure called an excision. Though this is the easiest treatment, it often leads to recurring episodes.

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