Gorlin syndrome (Gorlin Syndrome Alliance)
Information for patients and families
Gorlin syndrome is a rare genetic disorder that affects approximately 1 in 31,000 people worldwide.
At the most basic level, people with Gorlin syndrome have an increased lifetime risk of tumors, both cancerous and non-cancerous, in nearly any organ of their body.
The most common tumor experienced is a skin cancer called basal cell carcinoma, so the disease is also known as basal cell carcinoma nevus syndrome.
Because of the rarity of the disease, your doctors might not recognize or know much about Gorlin syndrome.
Medical care may be delayed or compromised if it is not identified, so it is important for people with Gorlin syndrome and their family members to learn about the syndrome and be able to effectively manage care.
Gorlin syndrome is caused by a defect in a gene that suppresses tumors in a person’s body.
Genes are like instructions for cells. Every cell has two copies of each gene. We inherit one gene from each parent.
Sometimes, we inherit a mutated gene from one parent, and sometimes a gene mutates on its own.
If one gene is mutated then the other gene can suppress tumor growth on its own to a degree.
This means that if a person with Gorlin syndrome has only one broken copy of a tumor suppressing gene in each cell, they may have some features of the disease.
If any cell in their body develops a second mutation that affects the working copy of the tumor suppressing gene, then the cell has no way to prevent itself from replicating out of control.
The cells will begin to pile up into a mass, and a tumor will form.
People with Gorlin syndrome usually have tumor growth at some point in their lives, but how many develop, at what age and which organs are affected is variable.
There are three genes known to cause Gorlin syndrome: PTCH1, PTCH2 and SUFU.
Genetic testing may identify which defect you have.
The specific gene that is altered can affect which manifestations and symptoms you experience.
A genetic counsellor can explain the risks associated with your specific gene mutation.
Gorlin syndrome commonly causes changes in the skin.
A person with Gorlin syndrome will need a dermatologist to identify, monitor and potentially treat any skin changes.
One signature of the disease are tiny pits that may appear as small holes on the palms of the hands and soles of the feet but do not usually require treatment.
Basal cell carcinomas may develop during childhood and the risk increases with age.
They are slow growing and rarely spread, if treated early and regularly, therefore lifelong monitoring by a dermatologist is important.
BCCs can appear as flesh-colored, tan to brown spots, or red patches.
The sheen can be pearly, waxy, or shiny.
The texture may appear flat, scaley or like elevated bumps.
They are typically located on areas of the skin that are exposed to ionizing radiation, commonly from UV sunlight or X rays, but can occur on all areas of the skin.
In the jaw bones, benign but destructive Odontogenic Keratocysts may form.
These cysts are common during childhood and adolescence and may continue to appear throughout adulthood.
Odontogenic Keratocysts typically begin as painless, but if they grow big enough, they can cause pain, displace teeth and erode bone.
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disorder characterized by the early development of basal cell carcinomas (BCCs) and other tumors in different body parts. People with Gorlin syndrome are also at risk for other health problems, including jaw cysts, early-onset hearing loss, and ophthalmologic abnormalities.