Your Guide to Gorlin Syndrome

Also known as basal cell skin cancer, basal cell carcinomas (BCCs) is 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. 

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 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.

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).

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

Also called sebaceous, keratin or epithelial, epidermal cysts are small hard lumps that live just under the skin. Usually slow growing, epidermal cysts can appear anywhere on the body and rarely cause pain or other symptoms unless they become infected or drain.

Some epidermal cysts of the skin require no treatment. Others may need to be surgically removed. Plastic surgeons, dermatologists, and general surgeons do this type of procedure. If the epidermal cysts become infected, medical treatment may be necessary.

Many people with Gorlin syndrome have large skulls (macrocephaly) and prominent foreheads (frontoparietal bossing). Most people with macrocephaly and frontoparietal bossing will experience no negative health effects. Others may require surgical intervention to correct the development, formation and fusion of the bones of the skull.

Infants, toddlers, and young children should have their head size monitored by their pediatrician. The provider will monitor the sutures (spaces between the skull bones) for proper growth and development.

Ovarian fibromas are non-cancerous tumor-like growths on or near a woman’s ovaries. They are made up of an overgrowth of connective tissues. In women with Gorlin syndrome, ovarian fibromas most often appear on both of the ovaries at the same time.

Up to 30% of women with Gorlin syndrome are affected by ovarian fibromas. With proper monitoring and treatment, there is no evidence that suggests ovarian fibromas affect a woman’s fertility.

Ovarian fibromas usually do not cause any problems unless they are large.
Females with Gorlin syndrome should be monitored regularly for ovarian fibromas starting in their early teen years. Ovarian fibromas are detected using imaging such as MRI, CT scan or ultrasound of the lower abdomen.

If the ovarian fibroma is large and/or causing internal issues, surgical removal may be necessary.

Crossed eyes or strabismus is when one or both eyes turn inward. Strabismus may happen to a person sometimes (intermittent) or be present all the time (constant).

Individuals with strabismus should see an ophthalmologist for treatment. Strabismus is first treated with a patch over the affected eye and or vision therapy. If those treatments do not work, surgery may be necessary.

The metacarpal bone is the lower part of the ring finger (the fourth finger counting from the thumb). Some people with Gorlin syndrome have a shorter metacarpal bone than average. Generally, this change in the length of the bone does not cause any problems for the individual.

People with syndactyly have some or all of their fingers or toes fused together by tissue sometimes called “webbing.” Syndactyly is not typically painful but can affect the functioning of the hands or feet depending on the level of fusion.

Fingers and toes with syndactyly can be separated by a plastic surgeon or a hand surgeon.

Brain ventricles are fluid-filled chambers inside the head that keeps the brain cushioned and protected. When there is more fluid in one chamber than another, the brain ventricle is defined as asymmetric.

Some people with brain ventricle asymmetry experience no symptoms. Others may have mental health issues or problems with speech, movement and cognition.

A neurologist or neurosurgeon can diagnose and manage brain ventricle asymmetry. Mild brain ventricle asymmetry may resolve on its own and therefore needing no treatment, while more severe cases may require a shunt to reduce the amount of fluid.

The falx cerebri is a tough membrane that separates the right and left sides of the brain.

The falx cerebri becomes calcified when calcium salts build up and cause the membrane to harden. Calcified falx cerebri is seen in children and adults with Gorlin syndrome and is very common.

A health care provider can identify calcified falx cerebri in an x-ray or brain scan. A calcified falx cerebri has no symptoms and does not affect health.

A hamartoma is a benign (not cancerous) tumour-like growth in a bone. Hamartomas are made up of cells and tissues that grow abnormally.

Hamartomas generally do not cause problems. However, if a hamartoma develops in the foot, it is important to consult an orthopedic physician. Treatments may include casting and surgery.

A high-arched palate or high-vaulted palate is where the roof of the mouth is high and narrow. About 30% of U.S. children are born with a high-arched palate. Children with a high-arched palate may have trouble feeding as infants, difficulty breathing, sleep issues, speech problems and difficulty clearing nasal congestion.

People with a high-arched palate should be evaluated by a maxilla-facial surgeon or an otolaryngologist (ear, nose, and throat physician). Treatment for high-arched palate include the use of a tongue expander and exercises to reposition and strengthen the tongue. In more severe cases, surgery may be necessary.

Paranasal sinuses are the pockets or cavities of air in the bones of the skull around the nose and in the forehead. The role of the sinuses are many including helping to condition the air we breathe and increasing the sound of our speech.

Hyperpneumatization of the paranasal sinuses means that there is extra air-space in the sinuses around the nose. Generally, there are no symptoms or problems related to this symptom and no treatment is required.

Prognathism is the position of the upper jaw in relation to the lower jaw. In mandibular (lower jaw) prognathism, the lower jaw protrudes or sticks out further from the upper jaw (maxilla). Prognathism of the maxilla means the upper jaw protrudes out further than the lower.

This problem can lead to misalignment of the upper and lower teeth. People with prognathism should be evaluated by their dentist, and possibly an orthodontist and oral surgeon.

Often called a unibrow or monobrow, synophrys is a fusion of the two eyebrows above the bridge of the nose, creating a single eyebrow.

Some people with a unibrow choose to wax, shave or pluck the hairs in the middle to create the look of two eyebrows. Sometimes, the hair does not grow back after repeated removal.

Lumbarization of the sacrum is when the vertebrae of the sacrum (the large, triangle-shaped bone at the bottom of the spine) appear on x-ray like the lumbar (the spine in the abdominal area) vertebrae. The sacrum of an individual with lumbarization is not as fused as the normal sacrum.

Lumbarization of the sacrum is treated by an orthopedic surgeon or neurosurgeon. Treatments include non-steroidal, anti-inflammatory (NSAIDs) and pain medications and physical therapy. Surgery to correct the defect may be required if more conservative therapy does not help.

Kyphoscoliosis is a combination of kyphosis (when the spine turns outward) and scoliosis (when the spine curves into a “c” or “s” shape). In addition to disfigurement, kyphoscoliosis can cause pain, trouble breathing, stiffness fatigue and nerve issues.

People with kyphoscoliosis are treated by an orthopedic surgeon or a neurosurgeon if symptoms are bothersome. Treatments usually begin with physical therapy and back braces. In severe cases surgery may be necessary.

Narrow sloping shoulders are when the shoulders appear to be smaller than the hips and angle downward from the neck. Sloping shoulders generally do not have any symptoms but if they cause discomfort or limit motion, the person should be evaluated by an orthopedic surgeon.

Pectus excavatum happens when the sternum (breastbone) and rib cage grow abnormally, causing sunken or caved in appearance of the chest.

Pectus carinatum happens when the breastbone and rib cage develop in a manner that causes the chest to jut out similar to a bird. Because of this, pectus carinatum is sometimes called “pigeon chest.”

Many people with pectus excavatum or carinatum experience no other symptoms related to these conditions. Sometimes these conditions can cause breathing problems, heart issues and pain in the chest and back.

People with Gorlin syndrome may have a variety of changes in the shape of their ribs. These include ribs that are splayed (turned outward), fused (stuck together), bifid (split in two at the end), and partially missing.

Rib anomalies generally do not cause any symptoms and therefore do not require any treatment.

In spina bifida occulta, or closed spina bifida, one or more bones of the spine do not form correctly. People with Gorlin syndrome typically have spina bifida occulta in the bones of the neck (cervical vertebrae) or the upper/back (thoracic vertebra).

Unlike in spina bifida, the spinal column in spina bifida occulta is not significantly moved out of place. For this reason, spina bifida occulta usually does not cause any symptoms. Sometimes there are outward signs of spina bifida occulta such as a tuft of hair or a small dimple or birthmark on a child’s lower back.

In rare instances, the spinal cord may be compressed by abnormalities in the skeleton as a result of Gorlin syndrome. This may result in abnormal feet, numb or weak hands or feet, or problems with bladder and bowels.

People with spina bifida occulta of the cervical or thoracic vertebrae should be evaluated by a neurologist and or neurosurgeon who has experience with these spine abnormalities.

Cardiac fibromas are benign (non-cancerous) tumors of the heart made up of connective tissues. These tumors usually occur in infants and children.

Symptoms of cardiac fibromas depend on the size and location of the tumor. Symptoms may include irregular heartbeat, heart murmurs, bluish skin, fainting and dizziness.

Cardiac fibromas may be diagnosed with an MRI or CT scan, sonogram and/or a tissue biopsy. Cardiac fibromas are treated with careful monitoring by a cardiologist and possible surgery by a cardiothoracic surgeon. Not all individuals with cardiac fibromas require immediate surgery. In very extreme cases, a heart transplant operation may be required.

Lymphomesenteric cysts are benign (non-cancerous) tumors of the abdomen that can cause belly pain, and bowel blockage when large or widespread. These cysts are made up mostly of the fluid from the lymph system.

If abdominal pain develops, seek care. The extent of the condition may be diagnosed by ultrasound, MRI or CT scan. Treatment for advanced or widespread lymphomesenteric cysts is surgery to remove the blockage.

Medulloblastoma is a malignant (cancerous) brain tumor that grows quickly. It is seen most often in children younger than 8 years. In those with Gorlin syndrome, medulloblastoma may develop in the first two years. More boys with Gorlin syndrome develop this tumor than girls.

Symptoms of medulloblastoma include headache, vomiting, nausea, sleepiness, and difficulty with coordination. There could be changes in behavior, appetite, as well as unusual eye movements.

The diagnosis is made by CT scan or MRI of the brain. Once diagnosed, the child should be seen by a neurosurgeon and possibly an oncologist as soon as possible. Depending on the location of the medulloblastoma, survival rate for this cancer is up to 80%.

Treatment options for medulloblastoma include surgery, radiation and/or chemotherapy. When discussing treatment options, it is important to recognize that the use of radiation therapy may induce the growth of multiple basal cell carcinomas in patients with Gorlin syndrome. The risks and benefits of each treatment option should be carefully considered by the child’s entire care team.

Meningiomas are generally slow growing, benign (non-cancerous) brain tumors that come from the covering of the brain and spinal cord. They do not grow from the brain tissue itself.

Symptoms of meningiomas vary depending on the location of the tumor. Symptoms may include headache, weakness of an arm or leg. Less common signs include personality changes, seizures, and vision problems.

Meningioma is diagnosed by a CT scan or MRI of the brain and typically managed by a neurosurgeon.

Ocular hypertelorism is a wide distance between the eye sockets, resulting in “wide-set” appearing eyes. Occasionally, hypertelorism can cause visual problems, but usually this is not the case. Severe cases of ocular hypertelorism are treated in childhood with surgery.

As part of the diagnosis process, a provider may ask for a genetic test to be performed on the person suspected of having Gorlin syndrome. A genetic test is a type of medical test that searches for changes in genes, chromosomes or proteins in the body to diagnose a genetic disorder or help determine the likelihood of someone developing or passing on a genetic disease.

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.

To help your health care provider better understand your medical situation, bring the following information to your first appointment.

A detailed health history that captures:

• Any skin problems
• Any birth defects such as large head size, hydrocephalus, undescended testicles, or a hernia, cleft palate
• Height/weight through childhood as compared to siblings
• Any malignant childhood brain tumors
• Any heart or fertility issues
• Excessive exposure to the sun, farm chemicals and radiation
• History of family members who may also have Gorlin syndrome

People with Gorlin syndrome are more likely to get multiple basal cell carcinomas (BCCs) over their lifetime. This means practicing safe sun habits is necessary. A basal cell carcinoma is a type of skin cancer that is more likely to develop on skin which is exposed to the sun. 

Before going outside, apply sunscreen to your/your child’s face and body (preferably sunscreen with SPF 30 or higher that contains zinc oxide and/or titanium dioxide). Cover exposed skin with sun-protective clothing, including a wide-brimmed hat and sunglasses. Some sun-protective clothes even have SPF built into the fabric. This is a great way to stay protected and feel stylish.

While outside,when possible, spend your time in the shade, especially when the sun is at its strongest between 10 a.m. and 4 p.m.Reapply sunscreen with SPF 30 or higher at least every 2 hours. If you/your child are swimming or sweating a lot, reapply sunscreen more frequently.Wear sunglasses and sun-protective clothing with SPF protection.

See your/your child’s dermatologist for regular full-body skin cancer checks, including checking skin that is not usually exposed to the sun. If the dermatologist does find signs of skin cancer, you/your child may be seen more frequently for follow-up visits.

It is common for people with Gorlin syndrome to not have enough vitamin D in their bodies. Vitamin D is important for bone health and for strengthening the immune system (the system in the body that fights against illness and germs). Ask the care team if you/your child may need a vitamin D supplement in addition to eating a healthy diet. Most adults get about 1,000-4,000 international units (IU) of vitamin D per day. Your/your child’s care team can provide personalized recommendations for how much supplemental vitamin D you/your child may need.

Radiation exposure can contribute to the development of BCCs in people with Gorlin syndrome. Radiation is commonly found in different imaging machines, like x-rays or computerized tomography (CT) scans. It can also be used to treat various types of cancer or shrink tumors. Unless they are necessary, try to avoid x-rays, CT scans, and radiation therapy. Make sure that your health care team is aware of this issue. An MRI scan is obtained without radiation exposure.

• MRI of the brain

• Cardiac ultrasound

• For infants, measurement of head circumference

• For infants, physical exam to identify significant birth defects

• Full body skin check by a dermatologist for basal cell carcinomas (BCCs) and other issues

• Digital panorex of jaw for odontogenic keratocystic tumors (OKCs) starting at age 8

• MRI of the spine (age 1 year or older) if medulloblastoma is suspected

• Pelvic ultrasound (females only, after first period)

• Ophthalmology exam

• Genetics evaluation

• Psychological examination to establish emotional support plan

• An MRI of the brain if symptoms are found in the baseline test

• A digital panorex of jaw done annually or more often if OKCs are present

• Skin examinations by a dermatologist every four months or more frequently if there are BCCs present

• Regular spine MRIs if there is presence of scoliosis

• Annual hearing, vision and speech evaluations

• Cardiac ultrasounds if heart symptoms are found in the baseline test

• For women, regular pelvic ultrasounds, if ovarian fibromas are found in the initial test

• For women, regular gynecologic health checks

• Annual genetics evaluation

• Regular psychological examinations for emotional health

• Annual nutritional assessment

• Annual neurology evaluation (if prior medulloblastoma)

Gorlin syndrome is a rare genetic condition that begins before birth. About two-thirds of individuals with Gorlin syndrome inherit it from a parent, with each child of an affected parent having a 50% chance of inheriting the condition.

Early Signs & Diagnosis Some features may be visible at birth, such as:

• Large head size (macrocephaly)
  
  
• Broad forehead
  
  
• Wide-set eyes
  
  
• Skin cysts (milia)
  
  
• Cleft lip or palate
  
  
• Eye abnormalities (e.g., small eyes, cataracts, coloboma, strabismus)
  
  

Monitoring & Medical Care 

Children with Gorlin syndrome benefit from regular monitoring to detect and manage symptoms early. Common evaluations may include:

• Skin checks
  
  
• Jaw imaging
  
  
• Brain and spine MRIs (as needed)
  
  
• Vision, hearing, and speech assessments
  
  
• Cardiac and pelvic ultrasounds (if symptoms present)
  
  
• Genetic evaluations and psychological support
  
  

Care plans should be customized with a healthcare team based on the child's unique needs.

Development & Emotional Health 

Some children may experience developmental delays, especially with motor skills, though most catch up by age 5. Emotional wellness is also essential, as children may face anxiety or sadness from feeling “different.”

Tips to support your child:

• Talk openly about Gorlin syndrome
  
  
• Help them understand and prepare for medical procedures
  
  
• Focus on strengths and give age-appropriate choices
  
  
• Connect with others facing similar challenges
  
  
• Work with teachers to support learning; some children may benefit from an IEP or 504 Plan
  
  

Mental Health Children with chronic conditions are at increased risk of depression. If your child shows signs such as ongoing sadness, fatigue, or loss of interest in usual activities for more than two weeks, consider speaking with a mental health professional.

Resources for Families (let’s include a family resources page under our to be created Resources section)- this is where we can link to camps and other organizations and resources,

Gorlin syndrome affects all genders equally, but women may face unique health considerations—especially related to reproductive health, pregnancy, and family planning.

Ovarian Health

Up to 25% of women with Gorlin syndrome develop ovarian fibromas. These non-cancerous tumors can cause:

• Heavy or irregular periods
  
  
• Frequent urination
  
  
• Lower back or abdominal pain
  
  

Fibromas rarely affect fertility, but regular pelvic ultrasounds are recommended to monitor growth and catch any issues early.

Family Planning & Genetic Testing

When one or both partners carry the Gorlin syndrome gene mutation, preimplantation genetic diagnosis (PGD) is an option. This process, done alongside IVF, allows embryos to be tested for the PTCH mutation before implantation—offering a way to reduce the chance of passing on Gorlin syndrome.

PGD is safe and effective, but it can be emotionally and financially demanding. Speak with a reproductive specialist for guidance. Use the Society for Assisted Reproductive Technology’s clinic finder to locate a provider near you.

Pregnancy & Delivery Considerations

Parents with Gorlin syndrome have a 50% chance of passing the condition to their child. Prenatal genetic testing options include:

• Chorionic villus sampling (CVS) in the first trimester
  
  
• Amniocentesis in the second trimester
  
  

Because babies with Gorlin syndrome often have larger head sizes, close monitoring during pregnancy is recommended. In some cases, early induction or cesarean delivery may be advised.

• Mohs surgery 
  • Removes a thin layer of the BCC tissue. This layer is analyzed for cancer cells while the patient waits. If there is presence of cancer cells, the Mohs surgeon removes another layer for analysis. Once a layer is free of cancer cells, the wound is closed and the surgery is complete. 
• Excisional surgery
  •  This is the removal of the entire BCC growth and some skin around it for a safety margin. The incision area is closed with stitches and the growth is sent to the lab for analysis.
• Curettage and electrodesiccation
  • The BCC growth is first removed with a special tool and then the area underneath is dessicated, or burned, with a fine needle used specifically for this purpose.
• Cryosurgery 
  • Destroys the BCC growth by freezing it. Liquid nitrogen is applied directly to the BCC causing the growth to blister, scab over and eventually fall off.
• Photodynamic therapy (PDT) 
  • Destroys BCCs by zapping them with a strong blue light after a topical “activating” agent is applied. Sunlight must be avoided for at least 48 hours after the procedure. PDT is used for superficial (thin BCCs) as it not effective on large or raised (nodular) BCCs. Photodynamic therapy is safer for people with Gorlin syndrome as it does not contain radiation.
• Laser surgery
  • While not yet approved by the FDA for the treatment of superficial BCCs, uses a strong beam of light (the laser) to destroy BCCs.
• Topical medications 
  • Iimiquimod or 5 Flurouracil are applied to the tumor site multiple times of day for up to six weeks, depending on the type of medication.
• Oral medications
  •  Sonidegib (Odomzo) and vismodegib (Erivedge) are used for advanced cases of BCCs, adults with multiple BCCs, and those that are metastatic (spread to other parts of the body). Both cause severe birth defects and women must take caution to avoid pregnancy while on these medications. They cannot be used in children due to the risk of impaired bone growth.

An odontogenic keratocystic tumor (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).

Ovarian fibromas usually do not cause any problems unless they are large.
Females with Gorlin syndrome should be monitored regularly for ovarian fibromas starting in their early teen years. Ovarian fibromas are detected using imaging such as MRI, CT scan or ultrasound of the lower abdomen.

If the ovarian fibroma is large and/or causing internal issues, surgical removal may be necessary.