What is Gorlin Syndrome?
Gorlin Syndrome, also known as Basal Cell Naevus Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a rare genetic condition which affects 1 out of every 31,000 persons. Among the ones diagnosed with it, in around 70-80% of the cases, the cause is inheritance. The abnormality of the gene which leads to the disease is a patched gene which is responsible for suppressing tumours and therefore,lack of proper functioning of it creates an ideal place for cancerous tumours to grow. In certain other cases, mutation of genes also cause the condition.
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Multiple early basal cell carcinoma and other tumours usually demonstrate occurrence of Gorlin Syndrome. Other symptoms which are associated with it are rib abnormalities, calcified falx celebri, broad forehead, cysts in the jaw and pits on palms.
Gorlin Syndrome is broadly classified into two types namely, major and minor. While cysts in the jaw, 3 or more palmar pits, fused ribs, more than 2 BCCs or 1 BCC in a person younger than 20 years or early calcification of the falx calibri qualify as major criteria, eye anomalies, skeletal and radiologic abnormalities,ovarian and cardio fibroma characterize the minor criteria.
Treatment methods of Gorlin Syndrome usually aims at relieving the symptoms more than curing the condition as it is a genetic disorder and completely curing it is challenging. Genetic counselling and medication are some the most common methods of treatment. However, in case of medication, sometimes, infection, new lesions and jaw deformity are observed as side effects. Gorlin Syndrome can cause serious complications like deformation, disability and in some cases it might even become fatal. Therefore, an early detection and treatment is of immense importance. The treatment methods usually depend on the severity of the condition and the areas of the body which gets affected by the disease.
Disclaimer: The information given in this write-up is purely for educating the reader. It is not meant to be a substitute for any advice from a medical expert.
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