Treatment
Many symptoms of Gorlin syndrome generally do not require treatment. Other manifestations need close monitoring.
The manifestations of Gorlin syndrome require different treatments. This often involves coordinating a team of care providers, including specialists in the following areas:
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Cardiology
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Dermatology
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Endocrinology
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Gynecology
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Neurology or
neurosurgery
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Ophthalmology
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Oral surgery
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Plastic surgery
Affected individuals and their caregivers are also important members of the care team. Many have extensive knowledge of and experience with GS.
Treatment depends on your/your child’s symptoms and needs. Some symptoms of Gorlin syndrome do not require treatment. Other symptoms need close monitoring and possible treatment, such as ovarian fibromas. Other more serious problems, such as BCCs and OKCs, must be treated or they can grow and change and can affect your/your child’s health later in life.
Different signs and symptoms of Gorlin syndrome require different treatments. Treatment often involves coordinating a team of care providers, including specialists in the following areas:
Cardiology (heart care)
Dental and possibly orthodontics
Dermatology (skin care)
Gynecology (female reproductive health care)
Neurology or neurosurgery (brain care)
Ophthalmology (eye care)
Oral surgery (surgery on the mouth and jaw)
Plastic surgery (surgery to restore, reconstruct or alter the body)
You/your child are also important members of the care team. You know yourself/your child best, so you/your child’s family are involved in all aspects of care.
Bone and skeletal conditions
Frequency
About 3 out of every 10 people with GS have bone cysts.
Treatment
Evaluation by an orthopedic and / or neurologic surgeon is needed.
Treatments may include casting to stabilize the bones and surgery to remove the cysts, if needed.
What is hyperpneumatization of the paranasal sinuses?
Hyperpneumatization of the paranasal sinuses (also called pneumosinus dilatans) is a condition in which there is extra airspace in the sinuses around the nose. Paranasal sinuses are the air pockets in the bones of the skull around the nose and in the forehead.
What are the symptoms of hyperpneumatization of the paranasal sinuses?
Generally, there are no symptoms or problems related to this symptom.
Treatment
What is lumbarization of the sacrum?
Lumbarization of the sacrum is a condition in which the sacral vertebrae (the large, triangle-shaped bone at the bottom of the spine) appear on x-ray like the lumbar vertebrae (the spine in the abdominal area). When a person has lumbarization of the sacrum, the sacrum is not fused together properly.
How do doctors diagnose lumbarization of the sacrum?
An orthopaedic surgeon or neurosurgeon can diagnose lumbarization of the sacrum through an x-ray.
What is macrocephaly and frontal bossing?
Many people with Gorlin syndrome have macrocephaly (large skulls) and frontoparietal bossing (prominent foreheads, also called frontal bossing). Most people with macrocephaly and frontoparietal bossing do not have any serious health effects, but others may require treatment.
How do doctors diagnose macrocephaly?
Infants, toddlers, and young children with Gorlin syndrome should have their head size monitored by their pediatrician. The pediatrician will check the sutures (spaces between the skull bones) for proper growth and development.
What are narrow sloping shoulders?
Narrow sloping shoulders are when the shoulders appear to be smaller than the hips and angle downward from the neck.
What are the symptoms of narrow sloping shoulders?
Sloping shoulders generally do not have any symptoms, but if they cause discomfort or limit motion, an orthopaedic surgeon may provide recommendations.
What are pectus excavatum and pectus carinatum?
Pectus excavatum and carinatum are conditions that affect how the chest, sternum (breastbone) and rib cage grow. In people who have pectus excavatum, the chest has a sunken or caved appearance. In people with pectus carinatum, the chest has a protruding appearance (sticks out).
What are the symptoms of pectus excavatum and pectus carinatum?
Aside from the physical appearance of the chest, many people with pectus excavatum or pectus carinatum do not have other symptoms related.
Sometimes, these conditions can cause breathing problems, heart issues and pain in the chest and back.
An orthopaedic surgeon or thoracic surgeon (surgeon who operates on the bones, tissues, and organs in and around the chest) can diagnose this condition through physical exams. If the condition affects your/your child’s heart or breathing, treatment may be needed.
What is prognathism?
Prognathism is the position of the upper jaw in relation to the lower jaw. In mandibular (lower jaw) prognathism, the lower jaw protrudes farther from the upper jaw (also called the maxilla). Prognathism of the maxilla means the upper jaw protrudes farther than the lower jaw.
Can prognathism cause other issues?
Prognathism can lead to misalignment of the upper and lower teeth (when the upper and lower teeth do not line up properly).
How do doctors diagnose and treat prognathism?
A dentist, orthodontist (doctor who helps align teeth and/or jaws) or oral and maxillofacial surgeon can diagnose prognathism and provide treatment.
What are rib anomalies?
Rib anomalies are conditions that affect the growth and development of the ribs and rib cage. People with Gorlin syndrome commonly have many physical differences in the shape of their ribs. These include ribs that are splayed (turned outward), fused (stuck together), bifid (split in two at the end or “forked”), partially missing ribs or having extra ribs.
What are the symptoms of rib anomalies?
Rib anomalies generally do not cause any symptoms.
How do doctors diagnose rib anomalies?
Doctors can diagnose rib anomalies through physical exams or imaging tests. Identifying rib anomalies can help doctors diagnose Gorlin syndrome.
What is scoliosis?
Scoliosis is a condition that causes a curve in the spine. In people with Gorlin syndrome, a specific type of scoliosis called kyphoscoliosis is most common. Kyphoscoliosis is when the spine curves outward and to one side, creating a hunched/side leaning appearance.
What are symptoms that can be caused by scoliosis?
In addition to a curved appearance of the spine, scoliosis can also cause:
Pain
Trouble breathing
Stiffness
Fatigue
Nerve issues
What is a short fourth metacarpal?
A short fourth metacarpal is when the metacarpal bone in the fourth finger is shorter than other fingers. The metacarpal bone is the lower part of the fourth finger counting from the thumb. Some people with Gorlin syndrome have a shorter metacarpal bone than those who do not have Gorlin syndrome.
Does a short fourth metacarpal cause other issues?
Generally, a short fourth metacarpal does not cause any problems, but it can help doctors diagnose Gorlin syndrome.
What is Sprengel deformity?
Sprengel deformity is a condition in which the scapula (shoulder blade) is higher on one side of the body. The affected shoulder blade is not connected to the spine in the usual way. This can limit the mobility (ability to move) of the shoulder. In very severe cases, it can restrict neck mobility as well.
How do doctors diagnose Sprengel deformity?
An orthopedic surgeon can diagnose people with Sprengel deformity and provide recommendations on treatment options.
What is syndactyly?
Syndactyly is a condition in which skin between the toes or fingers fuses, or grows, together. Sometimes, this is called webbing.
What are the signs and symptoms of syndactyly?
Syndactyly is not typically painful, but it can affect how the hands or feet work, depending on how much of the skin is fused.
Brain and neurological conditions
What is brain ventricle asymmetry?
Brain ventricle asymmetry is a condition in which the ventricles in the brain do not have equal amounts of fluid. Ventricles are fluid-filled chambers inside the head that keep the brain cushioned and protected.
What are the symptoms of brain ventricle asymmetry?
Most people with Gorlin syndrome with brain ventricle asymmetry do not have symptoms. Others may have issues with mental health, speech, movement, or cognition.
How do doctors diagnose brain ventricle asymmetry?
A neurologist or neurosurgeon can diagnose and manage brain ventricle asymmetry. Most doctors find brain ventricle asymmetry during a brain MRI while checking for other conditions.
How do doctors treat brain ventricle asymmetry?
A neurologist or neurosurgeon can help decide if treatment is necessary and find the best options for brain ventricle asymmetry.
What is calcified falx cerebri?
Calcified falx cerebri is a condition in which calcium builds up and causes the falx cerebri (a tough membrane that separates the right and left sides of the brain) to harden. Usually, there are no symptoms in people with this condition. It does not affect your/your child’s health or cognition.
How common is calcified falx cerebri in people with Gorlin syndrome?
Calcified falx cerebri is common in children and adults with Gorlin syndrome. Other areas of the brain may become calcified (hardened by calcium build-up) as well.
How do doctors diagnose calcified flax cerebri?
Your/your child’s doctor can diagnose calcified falx cerebri in an x-ray or brain scan.
What is a medulloblastoma?
Medulloblastoma is a cancerous brain tumor that develops in about 2-5 of every 100 people with Gorlin syndrome. Medulloblastomas are most common in people assigned male at birth.
Do people with Gorlin syndrome have a higher chance of developing medulloblastoma?
The risk for developing medulloblastoma depends on which genetic mutation you/your child has. People with Gorlin syndrome caused by SUFU gene mutations have a higher risk of developing medulloblastoma.
How do doctors treat medulloblastoma?
Treatment for medulloblastoma depends on age, symptoms, the size of the tumor and how extensive the cancer is (whether the malignancy has spread to other parts of the brain or body). Surgery and chemotherapy are common treatments. If possible, avoid radiation therapy. If you/your child has medulloblastoma, you/they may also meet with a neurologist or neurosurgeon (surgeon for the brain and nervous system) and oncologist to discuss treatment options as well as follow-up care.
What is spina bifida occulta?
Spina bifida occulta (also called spinal dysraphism or closed spina bifida) is a condition in which one or more bones in the spine do not fuse (come together) properly while babies are developing during pregnancy. The lack of fused bone exposes neural tissue (spinal cord tissue). People with Gorlin syndrome typically have spina bifida occulta in the cervical vertebrae (neck bones) or the thoracic vertebra (upper/middle back bones).
What is the most common type of spina bifida?
Spina bifida occulta is the most common and least severe type of spina bifida. In spina bifida occulta, the overlying skin remains intact. For this reason, spina bifida occulta usually does not cause any symptoms. Sometimes, there are visible signs of spina bifida occulta, such as a tuft of hair or a small dimple or birthmark on the lower back.
What are other symptoms of spina bifida occulta?
In rare instances, spine bifida occulta may lead to symptoms such as:
Foot deformity
Leg weakness
Weakness or numbness in the hands
Numbness or clumsiness
Loss of bladder or bowel control
How do doctors diagnose spina bifida occulta?
Imaging (MRI) of the spinal cord can check how much of the spinal cord is affected by spina bifida occulta.
How do doctors treat spina bifida occulta?
When spina bifida occulta causes no symptoms, it does not require treatment. If you/your child has spina bifida occulta with symptoms, a neurosurgeon will evaluate and make recommendations for treatment options.
Endocrine conditions
What is hypogonadotropic hypogonadism?
Hypogonadotropic hypogonadism is a condition in which the male testes or female ovaries produce little or no sex hormones (testosterone or estrogen).
What causes hypogonadotropic hypogonadism?
Hypogonadotropic hypogonadism is caused by a problem with the pituitary gland or hypothalamus in the brain. The pituitary gland is a small, pea-sized gland in the middle of the brain that controls the production of hormones in the body. The hypothalamus is a small part near the underside of the brain that helps regulate hormones, sleep and other jobs in the body.
What are the symptoms of hypogonadotropic hypogonadism?
Anosmia (the inability to smell)
Cryptorchidism (failure of the testes to descend into the scrotum)
Gynecomastia (breast enlargement in people assigned male at birth)
Limited facial or body hair development
Delayed puberty
Problems with fertility (ability to reproduce)
How do doctors diagnose hypogonadotropic hypogonadism?
An endocrinologist who specializes in hormone production disorders can diagnose hypogonadotropic hypogonadism through bloodwork and other testing
Treatment depends on your/your child’s age and desire to start puberty, mature sexually, or improve fertility. An endocrinologist can also talk with you/your child about hormone therapy.
Eye conditions
What is a congenital cataract?
A congenital cataract is a cataract that a person is born with. A cataract is a condition that causes clouding in the lens (the clear disc behind the iris, or colored part of the eye, that focuses light) of the eye.
What are the symptoms of congenital cataracts?
Children may have very mild symptoms or more severe visual problems.
How do doctors treat congenital cataracts?
Children with mild congenital cataracts need regular eye exams. An ophthalmologist will evaluate and provide treatment recommendations if needed.
What is congenital glaucoma?
Glaucoma is an eye disorder caused by degeneration (gradual breakdown) of the optic nerve (large nerve that connects each eye to the brain). This causes increased pressure in the eye. Congenital glaucoma is when a person is born with glaucoma.
What are the symptoms of congenital glaucoma?
Over time, damage to the optic nerve can lead to vision loss. Early diagnosis and treatment are critical to preserving vision in newborns.
How do doctors diagnose congenital glaucoma?
An ophthalmologist can diagnose congenital glaucoma through an eye exam.
What is strabismus?
Strabismus is a condition in which one or both eyes turn inward. Strabismus may be intermittent (happen sometimes) or constant (be present all the time).
How do doctors diagnose strabismus?
An ophthalmologist (eye doctor) can diagnose strabismus through an eye exam.
Gynecological conditions
What are ovarian fibromas?
Ovarian fibromas are non-cancerous, tumor-like growths that develop within the ovaries. They can be made up of an overgrowth of several different tissue types. In people assigned female at birth who have Gorlin syndrome, ovarian fibromas most often appear on both ovaries at the same time. Ovarian fibromas are different from, and less common than ovarian cysts.
Do ovarian fibromas affect fertility?
With proper monitoring and treatment, ovarian fibromas do not affect fertility.
Do ovarian fibromas cause other symptoms or problems?
Ovarian fibromas usually do not cause any problems unless they are large. Rarely, they can cause abdominal pain or menstrual irregularities.
How do doctors diagnose ovarian fibromas?
People assigned female at birth who have Gorlin syndrome should receive routine gynecologic care starting soon after starting to menstruate. If symptoms such as abdominal pain or changes in menstruation develop, an ultrasound to look for ovarian fibromas may be advised.
Heart conditions
What are cardiac fibromas?
Cardiac fibromas are rare, benign (non-cancerous) tumors that develop on the heart.
What are the symptoms of cardiac fibromas?
In most cases, cardiac fibromas do not cause symptoms. In rare cases, they can block blood flow in the heart or cause conduction delays (a delay in how the heart pumps blood), arrhythmias (abnormal heartbeats) or heart failure.
How do doctors diagnose cardiac fibromas?
Doctors screen all children with Gorlin syndrome for cardiac fibromas through a cardiac ultrasound. Doctors can tell if there are cardiac fibromas by looking at the ultrasound screen. If heart symptoms develop later, a repeat cardiac ultrasound may be necessary.
Oral and maxillofacial conditions
What is a cleft lip/palate?
Cleft lip and palate are types of birth defects. A cleft lip is an opening or a split in the upper lip. A cleft palate is an opening or split in palate (roof of the mouth). A baby can be born with one or both conditions.
How do doctors treat cleft lip/palate?
Surgery can fix a cleft lip and palate most of the time.
Some children may have other associated conditions that require additional surgeries later in life (such as missing, extra or crooked teeth). Some children may have trouble with speech and may need to work with a speech and language pathologist.
What is a high-arched palate?
A high-arched palate (also called high-vaulted palate) is where the roof of the mouth is high and narrow.
What are the signs and symptoms of a high-arched palate?
Children with a high-arched palate may have the following symptoms:
Trouble feeding as infants
Difficulty breathing
Sleep issues
Speech conditions
Difficulty clearing nasal congestion (stuffy nose)
How do doctors diagnose and treat a high-arched palate?
An oral and maxillofacial surgeon or otolaryngologist can care for people who have high-arched palates.
What are odontogenic keratocysts?
Odontogenic keratocysts (OKC) are benign tumors that grow in the lower and upper jaw bones. They are formed from the cells and tissue that help teeth develop. Very rarely, OKCs can transform into a cancer like tumor called ameloblastoma which requires an excision of the lesion of the jaw.
What are the symptoms of OKCs?
Most OKCs have no symptoms to start. Over time, they can grow and lead to tooth dislocation / or non-eruption of permanent teeth in the normal place or sequence, or jaw fractures.
How do doctors diagnose OKC?
Doctors usually find OKCs during routine dental x-rays or when pain, swelling and drainage develop in the area. OKCs can also happen along with impacted teeth and problems with new teeth coming in. An impacted tooth is an adult or secondary tooth that does not erupt when expected as when the baby tooth is lost, but the adult tooth is blocked from coming in.
How do doctors treat OKCs?
Odontogenic keratocysts are treated by oral and maxillofacial (mouth and jaw) surgeons or otolaryngologists (ear, nose, and throat doctors).
Skin conditions
What are basal cell carcinomas?
Basal cell carcinomas (basal cell cancer, also called BCCs) are a type of skin cancer. It is the most common type of skin cancer in the United States. BCCs are one of the most common features of Gorlin syndrome. BCCs frequently occur in skin that is exposed to the sun, but they can appear in anywhere on the body. The number of BCCs can range from a few to thousands. BCCs tend to be more aggressive (severe) in people with Gorlin syndrome.
How common are BCCs in people with Gorlin syndrome?
Seven out every 10 of people with Gorlin syndrome will have a BCC by the age of 40. About 9 out of every 10 people with Gorlin syndrome will develop a BCC in their lifetime. In the United States, about 1 in every 5 who do not have Gorlin syndrome will develop a BCC at some point during their lifetime.
What causes BCCs?
BCCs happen when the cells in the basal layer (bottom layer) of the epidermis (outermost layer of the skin that you see and touch on the body) become cancerous because of genetic mutations. Most basal cell cancers occur on skin that is regularly exposed to sunlight or other ultraviolet light radiation, such as tanning beds and certain types of lasers. In people with Gorlin syndrome, BCCs can develop in skin that has not been exposed to sunlight.
What do BCCs look like?
BCCS have raised borders that can appear glossy and shiny. BCCs can also be pink, red or can match the skin. BCCs may have darker dots 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.
What are the different types of BCCs?
There are 4 types of BCCS:
Superficial BCCS are the most common and least invasive type. This means they are less likely to spread and affect other parts of the body.
Nodular BCCs another common type. They are more likely to appear on the face or in skin that is frequently exposed to the sun.
Sclerosing BCCs are a more serious type of BCC that usually appears on the face. Sclerosing BCCs tend to be larger in size.
Morpheaform BCCs are the least common, but most aggressive type. They may appear anywhere on the body and are often larger than they appear with poorly defined borders.
Knowing which type of BCC you/your child has can help doctors recommend treatment options.
How do doctors diagnose BCCs?
Doctors can diagnose BCCs through a biopsy (when a piece of skin or tissue is removed and checked under a microscope).
How do doctors treat BCCs?
Treatment for BCCs depends on the size, depth, and location of the BCCs on the body, your/your child’s age and current state of health. BCC treatment is typically managed by a dermatologist who will provide treatment recommendations, which may include one or several of the approaches described below.
It is common for people with Gorlin syndrome to have multiple treatments for BCCS throughout their lifetime.
What are the different types of surgery for BCCs?
Surgical excision (removal) of BCCs is considered the gold standard (best type of treatment available). Surgical excisions are typically outpatient (performed with local anesthesia in your/your child’s provider’s office). You/your child will return home that day. All of these approaches use local anesthesia to numb the skin. They also leave a scar:
Mohs surgery is when a doctor removes a thin layer of the BCC tissue and checks it under a microscope for cancer cells. One layer of skin at a time is removed and checked until the doctor no longer sees any cancer cells under the microscope. Once a layer is free of cancer cells, the doctor will close the wound with stitches or allow it to heal naturally if able. Mohs surgery has improved cosmetic outcomes (outcomes related to appearance) and the highest cure rate. Doctors generally prefer this procedure for BCCs on the face and there are criteria to guide use of Mohs surgery.
Excisional surgery removes of the entire BCC and some skin around it to be safe. The incision area (skin that was cut) is closed with stitches or allowed to heal naturally if able. Doctors then check the BCC under a microscope.
Curettage and electrodesiccation is when the BCC is removed with a curette (a metal tool with a small scoop on the end). Then, the area underneath is desiccated (burned) with a cautery tool (a fine needle that heats up to seal bleeding blood vessels).
What are the different medications to treat BCCs?
Topical medications (such as imiquimod or 5 fluorouracil) are applied to the BCC multiple times of day for up to 16 weeks, depending on the type of medication. Topical medications do not usually work as well as surgery.
Oral medications (such as vismodegib and sonidegib) are used for advanced cases of BCCs, especially metastatic ones (BCCs that have spread to other parts of the body). Both medications cause severe birth defects and impacts on bone growth in those under 18 years of age. People who can get pregnant must avoid pregnancy while on these medications. These medications are not long-term solutions because of serious side effects. BCCs can come back after stopping these oral medications.
What are other treatment options?
Cryosurgery is when the doctor uses liquid nitrogen to freeze the BCC. Over time, the BCC blisters, scabs over, and falls off. Doctors do not usually prefer cryosurgery because BCCs are more likely to come back.
Photodynamic therapy (PDT) destroys BCCs by zapping them with a strong blue light after applying a topical activating agent. It is important to avoid sunlight for at least 48 hours after the procedure. PDT is used for superficial (thin) BCCs. It does not work as well on large or raised BCCs, and surgery has a higher cure rate
What are epidermal cysts?
Epidermal cysts (also called epidermal inclusion or epidermoid cysts) are small, hard lumps that live just under the skin. Usually, slow-growing epidermal cysts can appear anywhere on the body. They rarely cause pain or other symptoms unless they become infected or drain.
What are palmoplantar pits?
Palmoplantar pits (also called palmar-plantar pits) are shallow dips or dots on the palms of the hands or soles of the feet. They can also be found between the toes. Most people with Gorlin syndrome will develop palmoplantar pits. Some may have a few of them and others may have hundreds.
What do palmoplantar pits look like?
The pits look like large pores and can be more noticeable when the skin has absorbed water (like after a bath).
What are the symptoms of palmoplantar pits?
Palmoplantar pits do not have any symptoms other than their physical appearance on the skin. They are painless and do not cause other issues. If the pit grow, or becomes infected, talk with your/your child’s doctor.
Other conditions
What are lymphomesenteric cysts?
Lymphomesenteric cysts are rare, benign (non-cancerous) tumors located anywhere in the gastrointestinal tract (the digestive system). They rarely but may cause abdominal pain or bowel obstruction (blockage in the intestines). These cysts are mostly made of lymphatic fluid (fluid found in the lymphatic system, which is part of the immune system).
What are the symptoms of lymphomesenteric cysts?
The most common symptom of lymphomesenteric cysts is abdominal pain. You/your child do not need to be screened for lymphomesenteric cysts unless you/they have abdominal pain.
What is synophrys?
Synophrys (sometimes called a unibrow or monobrow) is when the two eyebrows meet above the bridge of the nose, creating what looks like a single eyebrow.