Clinic for patients with Gorlin syndrome

Written by Dr Cathy Zhao
Also known as naevoid basal cell carcinoma syndrome (NBSCCS), Gorlin syndrome is an autosomal dominant genetic syndrome with increased risk of developing basal cell carcinomas (BCC). In Australia, the estimated prevalence of Gorlin syndrome is 1:164000 as per a local study done in 1994.
The PTCH1 gene, with produces a tumour suppressor in the hedgehog signalling pathway (as mentioned in the previous blog entry), is mutated in 50-90% of individuals with Gorlin syndrome. Which the hedgehog signalling pathway is disturbed, there is a higher risk of developing BCCs.
In individuals with Gorlin syndrome, BCC can begin to develop as early as adolescence or early adulthood. The face and trunk are the most commonly affected body sites. The number of BCCs a person with Gorlin syndrome may develop can vary significant between individuals. Some people may never develop any BCCs, while others, numerous BCCs. Individuals with skin type I/II (lighter skin) may develop more.
Other clinical features of Gorlin syndrome include keratocystic odontogenic tumours (jaw cysts), palmer pits, macrocephaly (larger head size), and skeletal abnormalities involving the spine, ribs or skull.
The Westmead hospital’s new Advanced Basal Cell Carcinoma Clinic welcomes individuals with Gorlin syndrome who frequently develops BCCs and when eligible, offers the new treatment vismodegib for them.
If you would like to refer a patient with Gorlin syndrome to us, please feel free to contact the Research Unit doctors on 02 8890 5686 or fax your referral to 02 8890 9673.