What is Gorlin Syndrome?

Gorlin syndrome is a rare genetic disorder that usually runs in families. The condition is caused by mutations in genes that inhibit tumor formation. Gorlin syndrome can affect any organ in the body, including the skin, bones, and reproductive system.

Common symptoms include basal cell carcinoma, benign (noncancerous) cysts in the jaw, and skin depressions on the palms and soles of the feet. Gorlin syndrome can be difficult to manage, but it is not a fatal disease.

Gorlin syndrome is also known as:

  • 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 the disorder.

Symptoms of Gorlin’s Syndrome

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

  • magnifying head (macrocephaly)
  • protruding forehead
  • big eyes
  • Miliary cysts (firm, raised cysts that look like whiteheads but are not inflamed) under the eyes and on the forehead

Less common symptoms in newborns include:

  • Cleft palate (cleft in the upper jaw)
  • Small Eyes
  • cataract (clouding of the lens of the eye)
  • crossed eyes
  • rapid involuntary eye movements

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

Basal cell carcinoma

Basal cell carcinoma (BCC) is a curable skin cancer. They are the most common symptoms of Gorlin syndrome. About 90% of people with this disorder will have at least one BCC by their early 30s. Some people with Gorlin syndrome never develop basal cell carcinoma. Others may have thousands.

Basal cell carcinoma is also common in people without Gorlin syndrome. This type of cancer is associated with tanning and exposure to ultraviolet (UV) light. In people without Gorlin syndrome, BCC occurs in areas of the body that are exposed to a lot of sunlight or UV rays.

In people with Gorlin syndrome, BCC can erupt anywhere on the body, including in areas that are not exposed to sunlight.

keratinizing cystic odontogenic tumor

Keratocystic odontogenic tumors (KOTs) are noncancerous cysts or tumors that grow in the jawbone. They are made of cells and tissues that form teeth.

KOT can cause pain and swelling. If left untreated, they can damage the jawbone or expand into the sinus cavities.

palmoplantar pit

Palmoplantar pits are small pores that resemble large pores. If you have Gorlin syndrome, you may see these on the palms or soles of the feet. Some people only get a few points. Others have a thousand holes.

Rare Gorlin Syndrome Symptoms

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

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  • Medulloblastoma: These fast-growing cancerous brain tumors are usually seen in children younger than 2 years old, but can also occur in children 8 years old or older. They are more common in men than in women. Symptoms to look for include abnormal eye movements, vomiting, nausea, and coordination problems. Early detection and treatment are key.
  • Meningiomas: These slow-growing, benign brain tumors can cause headaches or weakness in one arm or leg. Sometimes, they can also cause seizures or personality changes.
  • Cardiac fibroids: These benign tumors develop in the heart and are most common in infants and children. Cardiac fibroids can cause irregular heartbeats, heart murmurs, and fainting.
  • Lymphocysts: These benign tumors grow in the stomach. They can cause abdominal pain and bowel obstruction.

Causes of Gorlin’s Syndrome

Gorlin syndrome is a genetic disorder that is usually (but not always) inherited. About 70 percent of people with the disease inherit a genetic mutation from a biological parent. Gorlin syndrome can also be caused by spontaneous gene mutations in people with no family history of the disease.

Gorlin syndrome is usually caused by mutations in the PTCH1 gene. PTCH1 is a tumor suppressor gene. It stops cells from multiplying rapidly or chaotically. PTCH1 mutations are responsible for 50%–85% of all Gorlin syndrome cases.

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

For outbreaks of symptoms such as basal cell carcinoma, mutations in the second copy of PTCH1 must occur in another cell type. The second mutated region will determine what and where your symptoms are.

Some people are born with a missing 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 deletion of the PTCH1 gene, can lead to other symptoms, such as developmental delay and intellectual disability.

Learn how genetic diseases are inherited

Diagnosis of Gorlin’s syndrome

If Gorlin syndrome is prevalent in your family, you may suspect that you or your child has it before it is officially diagnosed.

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

  • have two major symptoms and one minor symptom
  • There is one major symptom and three minor symptoms

The main symptoms include:

  • Family history of Gorlin syndrome
  • Two or more basal cell carcinomas before age 30
  • keratinizing cystic odontogenic tumor
  • palmoplantar fossa
  • Calcium deposits in the brain

Mild symptoms include:

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  • Malignant brain tumor (medulloblastoma) found in children
  • Macrocephaly with a prominent or prominent forehead
  • extra fingers or toes
  • Cleft lip (opening or splitting of the upper lip)
  • cleft palate
  • Unusually shaped vertebrae or ribs
  • Small Eyes
  • tumor in the iris of the eye
  • cataract
  • ovarian fibroma
  • Cardiac fibroma
  • abdominal cyst
  • Calcified ovarian cyst

A complete physical exam will evaluate your body for signs and symptoms. Your health history will be analyzed for information about past diagnoses, such as basal cell carcinoma or ovarian fibroids. If possible, let your doctor know about birth abnormalities you were diagnosed with, such as an enlarged head or a cleft palate.

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

Genetic testing can be done to find abnormalities in genes or chromosomes. It can be done on blood, hair or skin samples.

During pregnancy, genetic testing of amniotic fluid or placental tissue may also be performed. Because babies with Gorlin syndrome often have larger heads than babies without the condition, this type of test can help ensure a safe delivery.

People with Gorlin syndrome can lead fulfilling lives. However, if you do not want to pass the condition on to your offspring, you can have preimplantation genetic testing of the embryos before conception. This type of test is performed in conjunction with in vitro fertilization (IVF), where the egg and sperm are combined in a laboratory before the fertilized egg is implanted in the uterus.

Treatment of Gorlin syndrome

There is no cure for Gorlin syndrome. Your lifelong health protocol will center on preventing, monitoring, and treating symptoms. This will require baseline testing and analysis of areas of the body prone to tumors and fibroids, such as the brain, jaw, heart and ovaries.

Children and adults should have these screenings regularly:

  • full body exam to check for basal cell carcinoma
  • MRI of the brain
  • MRI of the spine if there is evidence of scoliosis (abnormal scoliosis)
  • Cardiac (heart) ultrasound
  • female pelvic ultrasound
  • Jaw X-ray
  • Hearing, vision and speech assessment
  • Psychological assessments to identify and treat problems such as anxiety and depression
  • Nutritional assessment to ensure optimal levels of vitamin D and other nutrients
  • Regular pediatric visits to children to assess overall health and when they have reached developmental milestones (specific achievement levels for each age)

Taking good care of your skin is a top priority. An important part of Gorlin syndrome treatment is the prevention of basal cell carcinoma. You may not be able to eliminate BCC completely, but you can reduce its number and incidence by avoiding sun exposure. When basal cell carcinomas do occur, they are usually surgically removed.

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The Gorlin Syndrome Alliance recommends a care team of experienced medical professionals who are board certified in their area of ​​expertise and who understand Gorlin syndrome. You may also want to stay informed about clinical trials that may help reduce the effects of certain symptoms or drive a cure.

prognosis

Gorlin syndrome does not affect life expectancy unless serious side effects occur. People with this disorder can lead full and productive lives. As with many chronic diseases, you must manage your symptoms and treat them promptly. This will affect your prognosis and your quality of life.

response

Gorlin syndrome can change your appearance. This can make it challenging, especially for kids. Children with the disease also have to adjust to lifelong medical tests, which can be stressful and frightening.

If you are the parent of a child with Gorlin syndrome, you can help by acknowledging and acknowledging your child’s emotions and concerns. If you have this yourself, please share your experience and set a good example by giving examples of self-acceptance and self-care.

Regardless of your age, you will benefit from a solid support team of medical professionals who know you, understand the situation, and have the ability to monitor your ongoing health and symptoms.

You can also find comfort and strength by building an emotional support network. This network can consist of family members, friends or therapists. It may also include Gorlin syndrome patients from around the world. The Gorlin Syndrome Alliance has a peer-to-peer network and online support group that may help.

generalize

Gorlin syndrome is a rare genetic disorder that is usually (but not always) inherited. It is usually caused by mutations in the PTCH1 gene. This gene inhibits tumor growth.

Gorlin syndrome causes a wide range of symptoms, including basal cell carcinomas and benign tumors of the heart, brain, and ovaries. This is not a fatal condition, but it does require lifelong monitoring and care. Having Gorlin syndrome can be unbearable. However, people with this disorder can live long and happy lives.

VigorTip words

Having Gorlin syndrome means that you may have medical tests and treatment for the rest of your life. This can be exhausting. Even the strongest and most resilient people in the world can get angry and frustrated at times. It does not matter.

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