GORLIN SYNDROME Meaning and
Definition
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Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder characterized by the development of numerous basal cell carcinomas (BCCs) and several other clinical manifestations. It is an autosomal dominant disorder, meaning that an affected individual has a 50% chance of passing on the condition to their offspring.
The most prominent feature of Gorlin Syndrome is the occurrence of multiple BCCs, a type of skin cancer that starts in the basal cells of the skin. These cancers typically appear during childhood or adolescence and can be found on sun-exposed areas of the body such as the face, scalp, and trunk. Individuals with Gorlin Syndrome may present with hundreds or even thousands of these tumors over their lifetime.
In addition to BCCs, people with Gorlin Syndrome often exhibit other signs and symptoms. These may include skeletal abnormalities, such as bifid ribs, prognathism, and macrocephaly (abnormally large head size). Dental abnormalities, such as missing or irregularly shaped teeth, are also commonly observed. Other features may involve the eyes, central nervous system, reproductive system, and the presence of palmar pits (small depressions on the palms of the hands).
Genetic mutations in the PTCH1 gene are responsible for the majority of Gorlin Syndrome cases. This gene is involved in regulating cell growth and division. Early diagnosis and regular monitoring are vital for the detection and treatment of cancerous lesions in affected individuals. Treatment options may include surgical removal of the tumors, radiation therapy, or targeted therapy with medications like vismodegib.
Common Misspellings for GORLIN SYNDROME
- forlin syndrome
- vorlin syndrome
- borlin syndrome
- horlin syndrome
- yorlin syndrome
- torlin syndrome
- girlin syndrome
- gkrlin syndrome
- glrlin syndrome
- gprlin syndrome
- g0rlin syndrome
- g9rlin syndrome
- goelin syndrome
- godlin syndrome
- goflin syndrome
- gotlin syndrome
- go5lin syndrome
- go4lin syndrome
- gorkin syndrome
- gorpin syndrome
Etymology of GORLIN SYNDROME
The word "Gorlin Syndrome" is named after Dr. Robert J. Gorlin, an American dentist and geneticist. He and his colleague Dr. Robert W. Goltz initially described the syndrome in 1960. The condition is also known as nevoid basal cell carcinoma syndrome (NBCCS) or basal cell nevus syndrome (BCNS). The term "Gorlin Syndrome" became widely used to honor Dr. Gorlin's significant contributions to its understanding and study.
