Managing Gorlin Syndrome

Managing Gorlin syndrome is a lifelong commitment. Because you are the one ultimately responsible for your care and wellbeing, it’s important to learn all you can about the syndrome and how it may affect your health.

The management of Gorlin syndrome centers on three areas of action: prevention, surveillance and treatment. While not all people with Gorlin syndrome share the same set of symptoms, the approach to disease management is the same.

Prevention

Practice safe sun habits

If you have Gorlin syndrome, it’s important to protect your skin from the sun.

People with Gorlin syndrome are prone to getting multiple basal cell carcinomas over their lifetimes so practicing safe sun habits is a must.

Before going outside:

Apply a physical blocking sunscreen that contains zinc oxide and/or titanium dioxide for children through teens. Teenagers through adults can use broad spectrum sunscreens that contain chemical and physical blockers.
Cover up exposed skin with sun-protective clothing including a wide-brimmed hat

While outside:

Spend your time in the shade, especially when the sun is at its strongest between 10 a.m. and 4 p.m.
Reapply sunscreen every two hours, more frequently if you are swimming or sweating a lot
Wear sunglasses

Outdoor tanning or the use of tanning beds is not recommended for people with Gorlin syndrome.

Avoid excessive radiation

Exposure to radiation can contribute to the development of BCCs in people with Gorlin syndrome. Those with Gorlin syndrome should avoid x-rays and radiation therapy unless necessary.

People with Gorlin syndrome may benefit from taking a vitamin D supplement

Vitamins and supplements

Many people with Gorlin syndrome are also deficient in vitamin D and may benefit from taking a vitamin D supplement in addition to eating a healthy diet. Vitamin D is important for immune system functioning and bone health.

NIH Office of Dietary Supplements recommends the average American adult get 1,000 to 4,000 IUs of vitamin D per day. A health care provider can provide personalized recommendations for individuals with Gorlin syndrome.

Surveillance

The signs and symptoms of Gorlin syndrome can develop and change over time. To understand and identify these changes, a health care provider first must establish a baseline, o

Recommended baseline tests and exams for children and adults newly diagnosed with Gorlin syndrome include:

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

Once the baseline tests and exams are complete, people with Gorlin syndrome should work with their health care team to monitor signs and symptoms.

Recommended tests for infants newly diagnosed with Gorlin syndrome include measuring the size of the head.

Recommended monitoring for children with Gorlin syndrome include:

An annual MRI of the brain until 8 years of age
A digital panorex of jaw every six months after the appearance of the first OKC until there are no cysts for two years
Skin examinations by a dermatologist every six months or more frequently if there are BCCs and once a year if there are no BCCs
Regular spine MRIs if there is presence of scoliosis
Annual hearing, vision and speech evaluations
Routine well-child visits to establish developmental milestones are being met
Cardiac ultrasounds if heart symptoms are found in the baseline test
For girls, regular pelvic ultrasounds if ovarian fibromas are found in the initial test
Annual genetics evaluation
Regular psychological examinations for emotional health

Recommended monitoring for adults with Gorlin syndrome:

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

OKCs require regular monitoring by a qualified dentist to avoid teeth and jaw complications

Treatment

Many symptoms of Gorlin syndrome generally do not require treatment. Other symptoms such as ovarian fibromas, warrant close monitoring and possible treatment. Still others such as BCCs and OKCs, must be treated or they will significantly impact health if allowed to grow and multiply.

Different signs and symptoms of Gorlin syndrome require different treatment approaches. Treatment often requires the coordination of a team of health care providers including specialists in dermatology, cardiology, plastic surgery, ophthalmology and oral surgery.

Regular visits to a dentist can help spot and treat OKCs early.