Basal Cell Nevus Syndrome / Gorlin Syndrome

Basal Cell Nevus Syndrome / Gorlin Syndrome

The Disease

Basal Cell Nevus Syndrome (BCNS) (also known as Gorlin syndrome or Nevoid Basal Cell Carcinoma Syndrome, (NBCCS), is an autosomal dominant familial cancer syndrome with prevalence of around 30,000 patients worldwide and 10,000 patients in USA alone. BCNS is caused by a mutation in patched 1 (PTCH1), a tumor suppressor gene involved in the hedgehog signalling pathway, an important pathway for cell proliferation. Basal Cell Nevus Syndrome (BCNS) patients present with numerous basal cell carcinomas (dozens to thousands), commencing during early adulthood.

Current Management

Regular full skin examination by a dermatologist every three to four months is recommended. Surgery is the predominant treatment option for high threat lesions while other non-surgical approaches may be used for lower risk disease. Hedgehog pathway inhibitors (HHI, such as Vismodegib and Sonidegib) can provide systemic control of BCCs but generally have poor cure rates. HHI also have, dose limiting side effects and regrowth of BCCs can occur after cessation of treatment.

The current management strategy for BCNS is definitive treatment of high threat BCCs, generally using surgical options. Lower risk lesions are managed with other modalities with the objective to minimize or delay the number of surgeries and the associated morbidities and disfigurements.

The Clinical Need

A minimally invasive approach able to treat multiple high threat BCCs with high cure rates which is also able to control lower risk lesions.

Low-risk sporadic Basal Cell Carcinoma

The Disease

Skin cancers account for nearly half of all cancers in the United States. In Australia and New Zealand, they exceed all other cancers combined. There are currently over 4 million skin cancers occurring annually in the United States and close to 80% of these are basal cell carcinomas. Anyone with a history of sun burns can develop BCC; however, the highest risk are those individuals with fair skin and fair hair. Those most often affected are older individuals between 50-80 years of age  however the average age of patients at onset has steadily decreased in recent years.

Current Management

Surgical approaches such as curettage surgical excision or Mohs surgery are the predominant treatment options for BCC and these have cure rates ranging from 90-99%. However surgery results in scarring, morbidity and exerts an extended recovery time especially when compared with less invasive approaches.

The Clinical Need

A minimally invasive approach that has comparable cure rates to surgical modalities and is safe, well tolerated and has good cosmesis.