Gorlin Syndrome
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Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is popularly called as Gorlin syndrome is an inherited condition. It affects one among 55,600 of the population in the United Kingdom. This disease causes a lot of problems, most of which affects the skin and connective tissues. Those who suffer from this syndrome are prone to multiple basal cell carcinomas, which is a form of skin cancer; jaw cysts; and other mostly harmless abnormalities in the bone.

Gorlin syndrome is a type of autosomal dominant cancer. Several organ anomalies, mostly subtle, are seen in patients suffering from Gorlin syndrome. Useful information about the neural development and carcinogenesis of this Gorlin syndrome is derived from a wide range of studies.

Patients with Gorlin syndrome tend to develop multiple neoplasms, that includes basal cell carcinomas and medulloblastoma. The patients suffering from this disease are extremely sensitive to ionizing radiation, including sunlight.

Gorlin syndrome is sometimes termed as the fifth Parkinsons because of the presence of multiple abnormalities of the skin, that of the skeleton, and the nervous system.

Causes of Gorlin Syndrome

Gorlin syndrome is a chromosomal disease. An autosomal dominant condition leads to the development of Gorlin syndrome. Like all gene-related or chromosomal disease, the abnormal gene that causes this disease is found on chromosome 9.

A great contributing cause might be change of climate, especially from cooler regions to intense solar climates, and this is the reason why some regions are more prone to this disease.

Symptoms of Gorlin Syndrome

This is a type of skin cancer, and the common symptoms are:

Broad shaped nose

Heavy and protruding brow

Sticking out jaws (in some cases)

Wide eyes

There are certain particular symptoms when this disease affects the nervous system. They are as follows:


Formation of brain tumors


Defects in the iris or lens of the eye

Swelling of the head due to fluid on the brain

Mental retardation


There are certain particular symptoms when this disease affects the bone. They are as follows:

Severe curvature formation at the back

Curvature formation at the back

Cysts formation in the jaw. This can lead to abnormal development of tooth, or jaw fractures

Abnormalities of the rib

Factors affecting the Gorlin syndrome

There are certain particular factors that affect Gorlin syndrome. They are as follows:


This disease is mostly found among the Caucasians and African Americans.


This is an autosomal dominant disease, and is equally found among men and women.


Like all similar diseases, the disease might be present in the patient from an early childhood, but the symptoms become apparent with age.

Frequency and the rate of mortality

Goblin syndrome is very rare, about 1 among 50,000 people. But this varies from region to region, as some places are more prone to this disease.

Goblin syndrome rarely lead to early death, unless the patient suffers from malignant brain tumor. Sometimes even wrong treatment can lead to untimely death of the patients suffering from Gorlin syndrome.

Diagnosis of Gorlin Syndrome

Diagnosis of Gorlin syndrome in a patient is done based on the following:

Family history of basal cell nevus syndrome

Basal cell skin cancers in the past

Tests that can be done to detect the disease are as follows:

Genetic testing

Skin biopsy of the present tumors

X-rays for checking bone cysts in the jaw, the mineral deposits in the brain, or the multiple bone abnormalities

Treatment of Gorlin Syndrome

There is not much treatment or cure for Gorlin syndrome, though there are certain measure that can be adopted. They include:

Surgery of the carcinomas

lasers or photodynamic therapy

Testing of the family members to detect faulty genes


The advice that can be given to a patient with Gorlin disease are

Avoid radiation treatment

Take advice from a doctor before going for a radiation treatment

Keep away from too much sunlight

Regular check ups

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