Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism.
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What is Gorlin-Goltz syndrome?
Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism.
How is Gorlin syndrome treated?
Currently, there is no treatment or cure for Gorlin syndrome itself. Rather, treatment for Gorlin syndrome centers on the prevention, management and removal of tumors and cysts caused by the disease. There are a variety of options to remove the tumors and cysts caused by Gorlin syndrome.
Is Gorlin syndrome rare?
Gorlin syndrome is a rare condition in which many people develop a type of skin cancer called basal cell cancer of the skin. They might also have a number of other medical conditions.
Who discovered Gorlin syndrome?
However, it was not until 1960 that two physicians (Drs. Robert Gorlin and Robert Goltz) wrote the first in-depth description of NBCCS as a distinct clinical entity. Consequently, the disorder is also known as Gorlin syndrome or Gorlin-Goltz syndrome.
What does Gorlin syndrome look like?
Gorlin syndrome may also cause benign (not cancer) tumors in the jaw, heart, or ovaries. Other signs and symptoms include a large head and unusual facial features; small pits in the skin on the hands and feet; abnormalities of the spine, ribs, or skull; eye problems; and developmental problems.
How is Gorlin syndrome diagnosed?
Genetic testing
- An exam of the patient’s skin for basal cell carcinomas, pitting on hands and feet, areas of skin discoloration, and small cysts (milia) around the eyes and nose and elsewhere.
- An exam of the face and head to identify any abnormalities of the face, skull, teeth and jaws.
How do you get Gorlin syndrome?
Gorlin syndrome is caused by a mutation (change) in the PTCH1 gene. Also called basal cell nevus syndrome, BCNS, NBCCS, and nevoid basal cell carcinoma syndrome.
Is Gorlin syndrome hereditary?
Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent .
How do I know if I have Gorlin syndrome?
What are the symptoms of Gorlin syndrome?
What are the symptoms of Gorlin syndrome?
- Larger-than-average head.
- Unusual facial features, such as a prominent forehead.
- Bone abnormalities in the spine, ribs or skull.
- Eye problems.
- Skin tags.
- Small indentations on the hands and feet (pits)