Becoming Familiar with Gorlin Syndrome

Learning that you or a loved one has Gorlin syndrome can be overwhelming. Becoming more familiar with the disease can help you manage fears and expectations. We provide information and highlight topics you may wish to discuss with a healthcare provider, but cannot give medical advice. We also share resources to help you manage the disease through lifestyle changes.

What is Gorlin syndrome?

Gorlin syndrome* is a rare genetic disorder that is estimated to affect 1 in 31,000 people, and impacts males and females equally. It is caused by a mutation in one of two genes that regulate cell growth before birth, and are involved in tumor suppression throughout the lifespan. Gorlin syndrome can affect every organ system of the human body. People with Gorlin syndrome are at increased risk of developing basal cell carcinoma (BCC) skin cancers and jaw cysts, as well as some other less common types of tumors. Basal cell carcinomas are the most common manifestation of Gorlin syndrome.

Up to 70% of people with Gorlin syndrome have a family history of the disease. This group has inherited the genetic mutation that causes Gorlin syndrome from one of their parents.

The other 30% of people with Gorlin syndrome have a new or “spontaneous” mutation in one of these tumor suppressing genes or are the first member of their family affected. Spontaneous mutation happens when the body mistakenly changes how a gene functions resulting in chronic disease and other health problems like Gorlin syndrome.

With proper management, people with Gorlin syndrome can expect to live as long as people who do not have the condition.

*It is also known as nevoid basal cell carcinoma syndrome, basal cell carcinoma nevus syndrome, Gorlin-Goltz syndrome, or basal cell nevus syndrome.

Signs & Symptoms

There are many signs and symptoms attributed to Gorlin syndrome. “Signs” are observable traits of the disease. A “symptom” is something that a person feels or experiences that may indicate that they have a disease or condition. Some symptoms are congenital (present from birth) and others develop over time.

Many symptoms do not cause the person with Gorlin syndrome any problems. Others, like basal cell carcinoma must be monitored closely as they can have significant impact on health.

The top three most common signs & symptoms:

Skin cancer: Basal cell carcinoma

Also known as basal cell skin cancer, basal cell carcinomas (BCCs) are the most common feature of Gorlin syndrome. About 90% of people with Gorlin syndrome will have one or more BCCs by the age of 35. For some people, BCC can appear starting in childhood.

BCCs happen when the cells in the bottom layer of the skin (the basal layer) become cancerous. Most basal cell cancers occur on skin that is regularly exposed to sunlight or other ultraviolet light radiation such as what is generated by tanning beds and certain types of lasers. In people with Gorlin syndrome, BCCs can develop in areas of the body that have not been exposed to much sunlight.

Basal cell carcinomas can have raised borders that can appear glossy and shiny. BCCs can also be pink, red or skin-colored, and may have darker flecks in them and be dome-shaped, flat, bumpy or scaly. Some BCCs develop a small crater in the center, ooze or bleed easily and crust over.

Basal cell carcinoma is the most common form of skin cancer in the US. One in five Americans (without Gorlin syndrome) will develop a BCC. This type of BCC is called sporadic basal cell carcinoma.

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.

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Jaw cyst: Odontogenic Keratocyst

An odontogenic keratocysts (OKC) is a benign (non-cancerous) cyst or tumor that grows in the lower or upper jaw bones. The cysts are formed from the cells and tissue that help develop teeth.

OKCs are often found during routine dental x-rays or when pain, swelling and drainage develop in the area. They may be associated with impacted baby teeth, and can cause problems with the new teeth coming in.

OKCs can return and must be treated aggressively. If OKCs are left untreated they continue to grow, pushing out permanent teeth and damaging the jaw bones. They can expand into the sinus cavity and cause discomfort in the cheek(s).

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Palmoplantar pits

Palmoplantar pits (palmar planter) are small depressions or dots on the palms of the hands or soles of the feet. Most people with Gorlin syndrome have pits – some may have a few of them and others may have hundreds.

The pits look similar to large pores and can be more noticeable when the skin has absorbed water (like after a bath). The words palmar and plantar refer to the areas where they are found most often – on the palms of the hands and the bottoms of the feet.

Generally, palmoplantar pits are painless and cause no problems. If the pits grow or change or become infected, consult a health care provider.

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