Basal cell nevus syndrome is a rare autosomal dominant cancer genetic syndrome and is also known as Gorlin syndrome. In this article, we will talk about the causes, symptoms, diagnosis, and treatment of Basal cell nevus syndrome.
What is Basal Cell Nevus Syndrome?
Basal Cell Nevus Syndrome( BCNS) or Nevoid Basal Cell Carcinoma Syndrome(BCCS), also called as Gorlin-Goltz Syndrome, is a multisystemic autosomal dominant disorder having a high penetrance and variable expressiveness.(1) The classical triad of Basal cell nevus syndrome includes multiple basal cell carcinomas, keratocystic odontogenic tumors, and bifid ribs. This disease is associated variably with other ophthalmic, neurological, endocrine, and genital manifestations, with onset during the 1st, 2nd, and 3rd decades of life.(2)
Basal Cell Nevus Syndrome affects the skin, nervous system, endocrine system, bones, and eyes. The telltale sign of basal cell nevus syndrome is the appearance of BCC or Basal cell carcinoma after you enter puberty. BCC is the most common type of skin cancer in the world.
The estimated prevalence of Basal Cell Nevus Syndrome ( BCNS) is 1/60, 000, and varies from 1/30827 to 1/256000.(3,4) The condition affects females and males equally and arises in all ethnic groups; however, most of the reported cases of the disease are in Whites.(5)
Basal cell nevus syndrome is mostly found in individuals above 45 years and occurs usually because of prolonged exposure to the sunlight.(6) We must mention that people with BCNS have a high risk of developing basal cell carcinoma.
Causes of Basal Cell Nevus Syndrome
Basal cell nevus syndrome or BCNS is passed down in families via an autosomal dominant pattern. It means that you need to get the gene from one of your parents for developing this disorder.
You have a chance of inheriting the gene and developing the condition if one parent has the gene.(7)
PTCH1 or patched gene is the specific gene that is involved in developing BCNS or Basal cell nevus syndrome. This gene is responsible for making sure that your body’s normal cells do not multiply too fast.
The body is unable to stop cell division and growth when problems with the PTCH1 gene arise. As a result, your body cannot prevent the growth of specific types of cancer.
Symptoms of Basal Cell Nevus Syndrome
The development of basal cell carcinoma in adolescence or young adulthood is one of the most common symptoms of Basal cell nevus syndrome. A person might also develop many other cancers early in life if the person has basal cell nevus syndrome. Some of the cancers include breast cancer, ovarian cancer, medulloblastoma, and non-Hodgkin’s lymphoma or NHL.
Physical symptoms experienced by patients of Basal Cell Nevus Syndrome ( BCNS) include pitting in the palms or on the feet, cleft palate, large head size, protruding jaw, eyes that are spaced far apart, spinal issues like Kyphosis or scoliosis. Some people with basal cell nevus syndrome also develop tumors in their jaw. These tumors are called Keratocystic odontogenic tumors and can result in the swelling of the person’s face. In some cases, the tumors displace the teeth.
In severe cases of Basal Cell Nevus Syndrome ( BCNS), there might be some additional symptoms. For instance, basal cell nevus syndrome can affect the nervous system and this might cause deafness, blindness, seizures, and intellectual disability.
Diagnosis of Basal Cell Nevus Syndrome
Diagnosis for Basal cell Nevus syndrome can be done by your doctor. They will ask you health history, which includes if you have been diagnosed with cancer. They will also ask if you have a family history of the disease.
A physical examination will also be performed by your doctor to see if you have conditions like Keratocystic odontogenic tumors, abnormalities in the spine or ribs, or if you have hydrocephalus( fluid in your brain leading to swelling of the head).
Some other tests like echocardiogram, biopsy, MRI of the head, X-ray of your jaw and head, genetic testing to confirm the diagnosis.
Treatment of Basal Cell Nevus Syndrome
Your treatment for BCNS or Basal cell nevus syndrome depends on your symptoms. If you suffer from cancer, you might be recommended to see an oncologist by your doctor for treatment.
If you suffer from Basal Cell Nevus Syndrome ( BCNS) but do not develop cancer, then your doctor might recommend you to see a dermatologist regularly. You will be detected for skin cancer by your dermatologist before it reaches a life-threatening stage.
Some patients might develop tumors in their jaws that would require you to have surgery for removing them.
Symptoms like Intellectual disability might be treated via therapies like physical therapy, occupational therapy, speech, and language therapy, and special education to improve the patient’s capabilities and quality of life.
Treatment Outlook for Basal Cell Nevus Syndrome:
If you have Basal cell nevus syndrome or BCNS, your outlook depends on the complications resulting from the condition. If caught early, skin cancer can be treated effectively. However, patients with advanced stages of this cancer might not have a fair outlook and there might be complications like deafness or blindness.
Basal Cell Nevus Syndrome: Final Words
Basal cell nevus syndrome or BCNS is a genetic condition that might not be prevented. If you have this disease or carry the gene for it, then you might seek genetic counseling when you are planning to have children. Your doctors would help provide you with the right information that you need to be able to make a proper decision.