What is Gorlin’s Syndrome?

Gorlin’s syndrome or the Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an inherited disease, which involves the defects of the skin, nervous system, eyes, endocrine system and connective tissues. People suffering from this condition are more prone to suffering from multiple basal cell carcinomas (skin cancer), jaw cysts and some abnormalities of the bone.

The severity of the disease is wide ranging and is seen amongst one in every 56000 to 75000 people. On an average 750,000 cases of Gorlin’s Syndrome are seen in US alone in a year. In Gorlin’s Syndrome, multiple organ systems may also be affected, like the abnormalities of the skin, the skeletal system, the genitourinary system and the central nervous system (CNS). One kind of rare neoplasms is also associated to the disease.

Causes of Gorlin’s Syndrome

Research has proved that Gorlin’s syndrome is a genetic disease caused by the mutation in the PTCH (Patched) gene, which is found on chromosome 9. It is an autosomal dominant condition. If a child is suffering from this disease, it is possible that he has inherited it from his parents, while new gene mutations are also very common.

It is seen that ultraviolet (UV) radiations are the most common trigger for these cancers. People with fair skin or people over the age of 50 prone to sun-exposure are at risk of contracting this disease. People suffering from this disorder show different magnitude of the disease, along with varying symptoms.

Symptoms of Gorlin’s Syndrome

Many symptoms are seen due to the increased size of the calvarial. Other than this, broadened nasal root, frontal and biparietal bossing, mild hypertelorism and mandible’s exaggerated length are few of the symptoms to be noticed in the patient suffering from Gorlin’s syndrome. Other symptoms also include blindness due to corneal opacity and cataract or glaucoma and Strabismus (exotropia). Cleft lip or palate may be seen in about 3% of the patients suffering from this disorder.

Diagnose of Gorlin’s Syndrome

There are two major criteria to diagnose the Gorlin’s syndrome – major criteria and minor criteria. In major criteria, following factors are considered -- more than 2 BCCs or 1 BCC in patients younger than 20 years; odontogenic keratocysts of the jaw (proven by histologic analysis); 3 or more palmar or plantar pits; bilamellar calcification of the falx cerebri; bifid, fused, or markedly splayed ribs and first-degree relative with NBCCS. In minor criteria, factors to be considered are -- macrocephaly; congenital malformations, such as cleft lip or palate, frontal bossing, coarse facies, and moderate or severe hypertelorism; other skeletal abnormalities, such as Sprengel deformity, marked pectus deformity, and marked syndactyly of the digits; radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects of the hands and feet, or flame-shaped lucencies of the hands and the feet and ovarian fibroma or medulloblastoma.

Treatment of Gorlin’s syndrome

Although, Gorlin’s syndrome is untreatable, the carcinomas can be cured with the help of surgery, lasers or photodynamic therapy, which helps in reducing the process of scarring. In case the disease runs in the family, one can get the gene tested and take gene therapy in order to prevent the disease from being passed onto their kids further on. People suffering from Gorlin’s syndrome are always advised to avoid undergoing any treatment involving the use of radiation as it will further exaggerate the problems associated with Gorlin’s syndrome.

One can undergo an oral surgery which involves cyst enucleation which is further followed by mechanical curettage or peripheral ostectomy may also be used for the treatment of odontogenic keratocysts. However, incidences of recurrence have also been observed amongst patients who have already undergone the treatment once.

Other surgical methods used for the treatment of the symptoms of Gorlin’s syndrome are electrodesiccation and curettage (ED&C), simple excision, Mohs micrographic surgery, and photodynamic therapy.

Advice:

Premature deaths are often reported, which occur mostly because of the skin cancer and tumours that the patients contract as a result of this disease. Though, when detected early, doctors can help curb the symptoms by administering proper treatments.