Surveillance

Babies with Gorlin Syndrome

Most babies with Gorlin syndrome have large heads and so may need assistance in delivery either by forceps or by Caesarean section. Neonatal physical examination when the baby is born will show if your baby has a larger than average head circumference which would raise the suspicion that the baby had inherited the condition.

Childhood Dental Screening

Childhood dental screening should commence from about 8 years for the detection and early treatment of jaw cysts, and continue annually.

There is also a need for at least annual surveillance from the specialist taking responsibility for treatment of the skin.

Adult Skin Checks

Adults should inspect their skin regularly. Annual surveillance of the skin by a Dermatologist is recommended and dental screening should continue into adult life, its frequency depending on the findings of each X-ray. New jaw cysts seem to slow after the middle thirties. It is unusual (but not impossible) for cysts to appear after this age.

Accessing Appropriate Screening

Courtesy of Manchester Centre for Genomic Medicine UK, Saint Mary’s Hospital

Adults should check their own skin regularly and report any concerns to their GP or specialist. Concerns about any unusual symptoms in children, such as neurological symptoms, or change in head circumference should be reported without delay.

As sunlight is one of the main environmental risk factors for the development of basal cell carcinomas (BCCs), extra care should be taken in the sun by using a good quality, high factor sun cream (with UVA/UVB protection) and wearing a T shirt, wide brimmed hat and sunglasses to protect the eye area when the sun is at it’s highest. Advice for children in school should be shared via the school specials education needs coordinator (SENCO)

Everyone with Gorlin Syndrome should regularly see a skin specialist (called a dermatologist) with experience of Gorlin syndrome.

Screening advice will change as new knowledge arises and depends on the type of gene mistake, age of the individual and previous problems they have experienced but as a general guide:

  • Echocardiogram to look for fibromas in the heart
    Baseline in infancy
  • Brain MRI to look for Medulloblastoma
    Individuals with a mistake in the PTCH1 gene – only if concerning neurological symptoms; change in head size or other unusual symptoms.
    Individuals with a mistake in SUFU gene – monthly until age of 3, then 6 monthly until age 5.
  • Dental exam with jaw x-ray to look for jaw cysts (keratocysts)
    Every 12 to 18 months from age 8 into adulthood but frequency will vary depending on result of last x-ray.
  • Skin examination by dermatologist or surgeon to look for Basal Cell Carcinomas
    Usually annually from age 10 (but may be more frequent once first BCC observed)
  • Ovarian ultrasound to look for fibromas in the ovaries
    As required
Ongoing 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 Reviewed and verified by Medical Advisers in conjunction with the Gorlin Syndrome Group, October 2020.

Dental Cone Beam CT -v- Convential CT Scans

Dental Cone Beam CT is an alternative to conventional CT scans for individuals with Gorlin Syndrome.

The article provided in the link below gives full details of what a Cone Beam CT scan is, common uses of the procedure and benefits -v- risks.

A recent issue came to light when one individual with Gorlin Syndrome was offered a conventional CT scan for detection of a jaw cyst but knowing the potential risk she sought further input from her Geneticist (a GS Medical Adviser) who confirmed that CT scans should only be used in exceptional circumstances due to the potential for the development of thousands of BCCs in the radiation field. Our medical adviser has suggested that MRI or a Cone Beam scan is preferable.

Click the following link to read about Cone Beam CT Scans.

British Association of Dermatologists UV app

UV app has been created by the British Association of Dermatologists (BAD) in collaboration with the Met Office.

The app provides the public with a free daily UV forecast for over 10,000 locations worldwide that can be accessed at the touch of your finger-tips. The UV forecast identifies the peak strength of the ultraviolet (UV) radiation from the sun at a particular place on a particular day. UV rays can cause damage to the skin and can cause sunburn – which may lead to skin cancer.

For more information check out the MetOffice.

Radiation Dose Information Guidance

Of concern to many individuals with Gorlin Syndrome is the risk from medical diagnostic procedures.

The table in the following link gives effective dose and equivalent periods of natural background radiation from diagnostic medical exposures. Visit GOV.UK for information.

If you have concerns about any aspect of the diagnostic procedures being offered to you then it is important that you speak to your doctor.

Reviewed and verified by Medical Advisers in conjunction with the Gorlin Syndrome Group, October 2020.