Management of BCC's may vary according to type, size and site. Surgical excision, cryotherapy, photodynamic therapy and topical fluorouracil may be used.rr
There is evidence that radiation may induce BCC's and should be avoided where possible.r
There is no evidence to support annual skin examination, but this is recommended on the basis that early detection may maximise the opportunity of early treatment.rrr
Risk reducing medications
There is some evidence that retinoids (isotretinoin and etreinate) prevent BCCs, however long term use is not practical due to side effects.r Further studies are needed on photodynamic therapy as chemoprevention.r
Expert consensus is to minimise UV exposure by adopting sun protective behaviours although evidence that this prevents BCC formation is limited.r Vitamin D deficiency from reduced sun exposure is associated with several health problems, but may also represent an environmental risk factor for development of BCCs.r
The risk of medulloblastoma appears higher for SUFU mutation carriers though data is based on small numbers (less than 20 cases). Where it occurs, medulloblastoma usually develops by age 3 (90% of known cases).
There is no evidence of benefit for radiological surveillance for medulloblastoma. There is concern about the risk of inducing skin cancers with the use of routine CT screening and the lack of evidence about the usefulness of regular MRI which requires sedation of children.r
For SUFU mutation carriers expert opinion is to consider regular brain MRI from infancy until mid-childhood as early diagnosis may be associated with a higher probability of surgical curer. For PTCH1 mutation carriers surveillance for medulloblastoma is not recommended based on the low frequency of tumours.r
An alternative is to investigate any symptoms or signs such as developmental delay, neurological signs or new onset of macrocephaly.
Up to 90% of individuals with PTCH1-related NBCCS develop jaw keratocysts. They can occur as early as age five years, peak occurrence is in the teenage years and they rarely occur after age 30 years. Jaw keratocysts may present as painless swellings. Untreated, they can lead to major tooth disruption and fracture of the jaw.
Jaw keratocysts have not been reported in SUFU mutation carriers.
Approximately 2% of infants have cardiac fibroma. They can be asymptomatic, or can cause arrhythmia or obstruction of cardiac flow. When symptomatic, they usually present at birth or soon after.
Ovarian fibromas occur in approximately 20% of women, and may cause torsion of the ovary. Some specialists recommend one-off screening at age 18, however there is no evidence of benefit in asymptomatic women. If asymptomatic ovarian fibromas are detected, there is a lack of evidence that intervention is required.
Pre-natal ultrasound may detect macrocephaly, cleft palate or cardiac tumour.r