What Is Gorlin Syndrome?

Gorlin syndrome is a rare genetic disorder that often runs in families. This condition is caused by a mutation in a gene that suppresses the formation of tumors. Gorlin syndrome can affect any organ in the body, including the skin, bones, and reproductive system.

Common symptoms include basal cell carcinomas, benign (noncancerous) cysts in the jaw, and pitted skin in the palms of the hands and soles of the feet. Gorlin syndrome can be challenging to manage but isn’t a fatal condition.

Gorlin syndrome is also called:

• Gorlin-Goltz syndrome
• Nevoid basal cell carcinoma syndrome
• Basal cell nevus syndrome

This article will explain the causes and symptoms of Gorlin syndrome. It will also discuss treatment options and coping mechanisms for adults and children with this condition.

Symptoms of Gorlin Syndrome

People with Gorlin syndrome may be born with identifying characteristics, such as:

• Enlarged head (macrocephaly)
• Prominent forehead
• Wide-set eyes
• Milia cysts under the eyes and on the forehead (hard, raised cysts that look like whiteheads but are not inflamed)

Less common symptoms in newborns include:

• Cleft palate (a gap in the roof of the mouth)
• Small eyes
• Cataracts (clouding of the lens of the eye)
• Crossed eyes
• Rapid involuntary eye movements

Other common symptoms of Gorlin syndrome occur over time. They include:

Basal Cell Carcinomas

Basal cell carcinomas (BCCs) are a curable type of skin cancer. They are the most common symptom of Gorlin syndrome. Around 90% of people with this condition will have at least one BCC by their early 30s. Some people with Gorlin syndrome will never have a basal cell carcinoma. Others may have thousands.

Basal cell carcinomas are common in people without Gorlin syndrome as well. This type of cancer is associated with tanning and exposure to ultraviolet (UV) light. In people without Gorlin syndrome, BCCs occur on parts of the body that get lots of sun or ultraviolet light exposure.

In people with Gorlin syndrome, BCCs may erupt anywhere on the body, including in areas that don't get sun exposure.

Keratocystic Odontogenic Tumors

Keratocystic odontogenic tumors (KOT) are noncancerous cysts or tumors that grow in the jawbone. They’re made from the cells and tissues that form teeth.

KOTs can cause pain and swelling. When left untreated, they can damage the jawbone or expand into the sinus cavity.

Palmoplantar Pits

Palmoplantar pits are tiny holes that resemble large pores. If you have Gorlin symdrome, you may see these on the palms of your hands or soles of your feet. Some people only get a few dots. Other people get thousands of pits.

Rare Gorlin Syndrome Symptoms

Less than 14% of people with Gorlin syndrome have more serious side effects. As with the other, more common symptoms, these can also be monitored and treated:

• Medulloblastoma: These fast-growing, cancerous brain tumors are usually found in children under age 2 but can occur up to age 8 or older. They’re more common in males than in females. Symptoms to look for include unusual eye movements, vomiting, nausea, and problems with coordination. Early testing and treatment are key.
• Meningioma: These slow-growing, benign brain tumors may cause headaches or weakness in one arm or leg. Occasionally, they also cause seizures or personality changes.
  
• Cardiac fibromas: These benign tumors occur in the heart and are most common in infants and children. Cardiac fibromas can cause irregular heartbeat, heart murmurs, and fainting.
  
• Lymphomesenteric cysts: These benign tumors grow in the stomach. They can cause abdominal pain and bowel blockage.
  

Causes of Gorlin Syndrome

Gorlin syndrome is a genetic condition that is usually, though not always, inherited. Around 70% of people with this condition inherit a gene mutation from one biological parent. Gorlin syndrome can also be caused by a spontaneous genetic mutation in someone with no family history of the disease.

Gorlin syndrome is usually caused by a mutation in the PTCH1 gene. PTCH1 is a tumor suppression gene. It stops cells from increasing rapidly or chaotically. The mutation in PTCH1 is responsible for 50%–85% of all cases of Gorlin syndrome.

Gorlin syndrome is an autosomal dominant disorder. This means that the PTCH1 gene is a dominant gene located on an autosome (nonsex chromosome). You only need one mutated copy of PTCH1 to be born with Gorlin syndrome.

For symptoms such as basal cell carcinomas to erupt, a mutation in the second copy of PTCH1 must occur in another cell type. The area of the second mutation will determine what and where your symptoms are.

Some people are born missing one copy of the PTCH1 gene. This is caused by a chromosomal error in chromosome 9. Chromosomes are the structures in cells that contain genes. Gorlin syndrome caused by a missing PTCH1 gene can lead to additional symptoms, such as developmental delays and intellectual disabilities.

Diagnosis of Gorlin Syndrome

If Gorlin syndrome runs in your family, you may suspect that you or your child has it before getting an official diagnosis.

A person is officially diagnosed with Gorlin syndrome if they meet one of these two criteria:

• Have two major symptoms and one minor symptom
• Have one major symptom and three minor symptoms

Major symptoms include:

• Family history of Gorlin syndrome
• Two or more basal cell carcinomas before age 30
• Keratocystic odontogenic tumor
• Palmoplantar pits
• Calcium deposits in the brain

Minor symptoms include:

• Malignant brain tumor found in children (medulloblastoma)
• Macrocephaly combined with a protruding or prominent forehead
• Extra fingers or toes
• Cleft lip (opening or split in upper lip)
• Cleft palate
• Spinal bones or ribs that are abnormally shaped
• Small eyes
• Tumors in the irises of the eyes
• Cataracts
• Ovarian fibroma
• Fibroma in the heart 
• Cysts in the abdomen
• Calcified ovarian cysts

A complete physical examination will assess your body for signs and symptoms. Your health history will be analyzed for information about past diagnoses, such as basal cell carcinomas or ovarian fibromas. If possible, let your doctor know about birth anomalies you were diagnosed with, such as an enlarged head or cleft palate.

Imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scan may be done to look for brain or ovarian calcifications, fibromas, and bone abnormalities.

Genetic testing may be done to uncover abnormalities in genes or chromosomes. It can be done on a sample of blood, hair, or skin.

During pregnancy, genetic testing can also be done on amniotic fluid or placental tissue. Since babies with Gorlin syndrome often have larger heads than infants without this condition, this type of testing can be beneficial for ensuring a safe delivery.

People can live full lives with Gorlin syndrome. However, if you prefer not to pass this condition on to your offspring, you can have preimplantation genetic testing done on embryos before pregnancy. This type of testing is done in conjunction with in vitro fertilization (IVF), combining an egg and sperm in a lab before implanting the fertilized egg in the uterus.

Treatment of Gorlin Syndrome

There is no cure for Gorlin syndrome. Your lifelong health protocol will center around prevention, monitoring, and treatment of symptoms. This will require baseline testing and analysis of bodily areas prone to tumors and fibromas, such as the brain, jaw, heart, and ovaries.

Children and adults should have these screenings regularly:

• Full body exam to check for basal cell carcinomas
• MRI of the brain
• MRI of the spine if there is evidence of scoliosis (abnormal lateral curvature of the spine)
• Cardiac (heart) ultrasound
• Pelvic ultrasound in females
• Jaw X-ray
• Hearing, vision, and speech evaluations
• Psychological evaluation to identify and treat issues such as anxiety and depression
• Nutritional evaluation to ensure that vitamin D and other nutrient levels are optimal
• Regular pediatric visits for children to assess overall health and when they reach developmental milestones (specific levels of achievement for each age)

Taking care of your skin is a priority. An important part of Gorlin syndrome treatment is the prevention of basal cell carcinomas. You may not eliminate BCCs completely, but you can reduce their number and occurrence by avoiding sun exposure. When basal cell carcinomas do occur, they’re usually removed surgically.

The Gorlin Syndrome Alliance recommends building a care team of seasoned medical professionals who are board certified in their specialty, and knowledgeable about Gorlin syndrome. You might also wish to stay informed on clinical trials that might help reduce the impact of certain symptoms or move a cure forward.  

Prognosis

Unless a serious side effect occurs, Gorlin syndrome does not affect life expectancy. People with this condition can live a full and productive life. As with many chronic conditions, you’ll have to stay on top of your symptoms and treat them promptly. This will affect your prognosis, as well as your quality of life.

Coping

Gorlin syndrome can alter your appearance. This may make it challenging, especially for kids. Children with this condition must also adapt to a lifetime of medical tests, which can be stressful and scary.

If you’re the parent of a child with Gorlin syndrome, you can help by acknowledging and validating your child's emotions and concerns. If you have this condition yourself, share your experiences and set a good example by exemplifying self-acceptance and self-care.

No matter what your age, you’ll benefit from a solid support team of medical professionals who know you, understand this condition, and are equipped to monitor your ongoing health and symptoms.

You may also get comfort and strength from creating an emotional support network. This network can be comprised of family members, friends, or a therapist. It can also include people with Gorlin syndrome from around the world. The Gorlin Syndrome Alliance has a peer-to-peer network and online support groups which may help.   

Summary

Gorlin syndrome is a rare genetic disease that is often, though not always, inherited. It’s usually caused by a mutation in the PTCH1 gene. This gene suppresses tumor growth.

Gorlin syndrome causes a wide range of symptoms, including basal cell carcinomas and benign tumors in the heart, brain, and ovaries. It’s not a fatal condition but does require lifelong monitoring and care. Having Gorlin syndrome can be challenging to live with. However, people with this disease can live long and happy lives.

A Word From Verywell

Having Gorlin syndrome means you'll likely have a lifetime of ongoing medical tests and treatments. This can be draining. Even the strongest, most well-adjusted person in the world sometimes gets angry and depressed. And that's OK.

Taking care of this condition's physical and emotional symptoms can give you some control over it. With proper care, a great medical team, and an emotional support system, there is absolutely no reason you can't live a long and productive life.