How do you diagnose Gorlin syndrome?
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.
Is there a cure for Gorlin syndrome?
There is no cure for Gorlin syndrome but there are treatments. 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.
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)
Is Gorlin syndrome autosomal dominant?
The risk for ovarian tumors and skin cancer is increased with basal cell nevus syndrome (also called Gorlin syndrome or nevoid basal cell carcinoma), a rare autosomal dominant cancer genetic syndrome.
Does Gorlin syndrome cause pain?
If untreated, these tumors may cause painful facial swelling and tooth displacement. Individuals with Gorlin syndrome have a higher risk than the general population of developing other tumors.
What gene causes 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.
Who was Gorlin?
The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term ‘Gorlin-Goltz syndrome’.
What is Werner syndrome?
Listen to pronunciation. (VER-ner SIN-drome) A rare, inherited disorder marked by rapid aging that begins in early adolescence or young adulthood and an increased risk of cancer.
What is the life expectancy of a person with Bloom syndrome?
Males are infertile; females enter menopause prematurely. There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years….Edit This Favorite.
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How common is Gorlin syndrome?
Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome.