Gorlin Syndrome

What is Gorlin Syndrome?

Gorlin syndrome is also known for its other name as nevoid basal cell carcinoma syndrome and it is a rare sort of affliction that has a big impact on the different parts of the body once a person gets it. It is very risky because the person who has it has a bigger chance of developing tumors that are noncancerous and cancerous and compared to the population of all people around the globe,

Gorlin syndrome has a higher risk of other tumors to develop.  For over a million of people diagnosed with basal cell carcinoma, one person is positive of having Gorlin syndrome and out of 100% of the amount of people having Gorlin syndrome, about 80% inherited the syndrome from one of their parents through a type of gene mutation. The most successive form of cancer is the basal cell carcinoma and most people who has Gorlin syndrome have this kind of cancer that usually develops during early childhood or adolescence, though not all with Gorlin syndrome augments the cancer. Individuals who are black-skinned are less likely to develop basal cell carcinoma cancer than those people who have white skins.

Keratocystic odontogenic tumors are also developed by some other people with nevoid basal-cell carcinoma syndrome. These are noncancerous jaw tumors and it still occurs during adolescence until the person reaches 30 years old. If keratocystic odontogenic tumors are not treated right away, these may cause tooth displacement and sore swelling of the face.

A brain tumor called medulloblastoma may be acquired by a person with Gorlin syndrome as well and another noncancerous tumor that can occur in a woman’s heart called a fibroma can also be obtained by the person. Gorlin syndrome also has some signs and symptoms regarding some unusual changes of the body like having a large head size or skeletal abnormalities are somehow evident during birth or when the kid reaches early childhood.

Which genes are affected by Gorlin Syndrome?

Gorlin syndrome is caused by the changes in the PTCH1 gene. This gene functions as the provider instructor for making a protein that functions as a receptor which is called the protein patched homolog 1. There is also a protein that serves as the ligand for the patched-1 receptor that’s called the Sonic Hedgehog and together with the receptors; they provoke the signals that could influence on the cell development and function.

The PTCH1 gene also functions as a tumor receptor wherein this gene protects a certain cell from cancer and the mutations of the gene could either conduct the abnormal version of building receptors or stop the making of patched-1. When a patched-1 receptor is missing, it can’t possibly subdue cell growth and division resulting to an uncontrollable rapid increase of cells to form tumors that are traits of Gorlin syndrome.

The attributes of the syndrome can also be linked with a chromosomal change wherein a piece is deleted in each cell called 9q22.3 microdeletion. The PTCH1 gene contains a segment of chromosome 9 which is deleted and later on results to people with 9q22.3 microdeletion missing one duplicate of the gene. As the gene vanishes, it soon causes the signs and symptoms of Gorlin syndrome.

Gorlin Syndrome Symptoms

Symptoms of Gorlin Syndrome include:

  • Basal-cell carcinoma development
  • Breast cancer
  • Ovarian cancer
  • Medulloblastoma brain tumor
  • Malignant lymphoma
  • A jaw tumor that is called keratocystic odontogenic tumor that can cause the swelling of the face
  • Mental retardation
  • May also lead to deafness, blindness and even seizures
  • Unusually unique physical features

Gorlin Syndrome Management

A person who has Gorlin syndrome should first undergo a kind of surveillance and after that is the treatment associated with the findings. Other treatments depend on the symptoms involved. If the person has cancer, the physician will most-likely suggest for that individual to go visit an oncologist. If the cancer is not developed but the signs and symptoms are there, the physician will propose to see a dermatologist in order for the skin doctor to examine the skin for possible cancer detection before it gets worse.

Treatment could also be through supportive therapy but this will not cure the condition and rather reduce any type of manifestations. Individuals who develop jaw tumors should undergo surgery for it to be removed. Genetic counseling may also apply.

Gorlin Syndrome Prognosis

The prognosis for most patients depends on the severity of the basal-cell carcinoma. If the person is diagnosed right away along with the proper treatments or if the family of the person already knew that their child inherited the gene of having Gorlin syndrome and took an immediate action then there should be fewer worries. On the opposite of that, if the disease is disregarded by the individual then it might lead to impairment, severe disfigurement, and the worst which is death.

Gorlin Syndrome Pictures

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gorlin syndrome causes genetics

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gorlin syndrome features

Villavicencio EH, Walterhouse DO, Iannaccone PM (2000). “The sonic hedgehog-patched-gli pathway in human development and disease.”. Am. J. Hum. Genet. 67 (5): 1047–54.
Corcoran RB, Scott MP (2002). “A mouse model for medulloblastoma and basal cell nevus syndrome.”. J. Neurooncol. 53 (3): 307–18.
Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG (2006). “PTCH mutations: distribution and analyses.”. Hum. Mutat. 27 (3): 215–9.

3 thoughts on “Gorlin Syndrome

  • 28/01/2017 at 12:28 PM

    At last! Someone who unesrdtands! Thanks for posting!

  • 31/01/2018 at 11:10 PM

    My son has Gorlins syndrome. Has had several surgeries to take out cysts in his jaw. He has had to lose several teeth because of this. He has had multiple basil cells either burned off or cut out.
    The older he gets it seems the more he gets.
    He was first diagnosed with Gregg’s syndrome when he was two. He had a cyst removed from his nose, which had spinal fluid seeping from it. Thank God we caught it in time. Nothing really surfaced again till he turned 20. Then the cysts in his jaw appeared, taking over his jaw bone on both sides of his face.
    As the doctor removed the cysts he informed us that he actually had Gorlin’s syndrome. And all those spots we just thought were freckles or just spots were actually cancerous.
    I guess I just wanna know how anyone else with this syndrome is dealing with it. I have also noticed his spine/back seems to be changing to where he is kind of hunching. His doctors are continually monitoring him. He has even tried chemo pills to try to slow down the cancer.
    Is there any help out there for this syndrome? It is much needed. The expenses of each surgery is taking a toll on him also.
    Any advise would be much appreciated.

    • 19/09/2018 at 8:36 PM

      I have them all over my face. I have had many surgeries. They keep coming back! I am 69 years old and I do care how I look still. I keep thinking how people look at me still. I wish there was something I could do to take them away. I had all the other symptoms as well. I dont have any tumors on my brain or anywhere else.


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