Surveillance

Diagnosis is vital for subsequent surveillance for complications such as basal cell carcinomas (BCCs) and jaw cysts, and for giving genetic information. Individuals with Gorlin syndrome should be offered regular screening, ideally with one clinician or genetic department monitoring and coordinating the care.

Other less common complications include eye problems, cleft lip and palate, fibromas (benign tumours) in the heart or a woman’s ovaries.

Young children with Gorlin syndrome caused by mistakes in the less common gene (called the SUFU gene) have around a 20% chance of developing a brain tumour called a medulloblastoma, this is only around 1-2% for the more usual PTCH1 gene.

• Most babies with Gorlin syndrome have larger than average size heads and so may need assistance in delivery either by forceps or Caesarean section; an ultrasould may help in predicting this.
• Monitoring of head circumference throughout childhood is recommended for signs of any rapid enlargement due to increased risk of hydrocephalus. Awareness of the risk of medulloblastoma in the early years of life is important and for this reason development and physical examination is justified.
• Dental screening should commence from 8 years; an orthopantogram examination (jaw x-ray) is recommended every 12 – 18 months for the detection and early treatment of jaw cysts.  Use of radiotherapy can lead to the development of thousands of BCCs in the radiation field [Strong 1977, Evans et al 1991a] and therefore should be avoided if there are alternative treatments, especially in childhood.
• Annual surveillance of the skin by a Dermatologist or Plastic Surgeon is recommended. In some individuals there may be a need for more frequent surveillance.

Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330  29th March 2018

To see full article see Gene Reviews

Reviewed and verified by Medical Advisers in conjunction with the Gorlin Syndrome Group 12th September 2019. Next Review September 2020.