Table 1.

Gorlin syndrome surveillance recommendations

PTCH1 mutation carriers
Basal cell carcinoma screening annually by age 10, with increased frequency after first basal cell carcinoma observed
Baseline echocardiogram in infancy, dental exams with jaw X-ray every 12 to 18 months beginning at age 8, and an ovarian ultrasound by age 18
Low risk of medulloblastoma: no radiographic screening unless concerning neurologic exam, head circumference change, or other unusual signs or symptoms
If medulloblastoma: radiation-sparing treatment given risk of radiation-induced skin cancers
SUFU mutation carriers
Same as PTCH1 mutation carriers, with the exception of no jaw X-rays, as keratocysts have not been described
Additional medulloblastoma screening: consider every-4-month brain MRI through age 3 and then every-6-month brain MRI until the age of 5a. Radiation-sparing treatments are again recommended if a brain tumor should occur.
  • aData to support optimal frequency and timing of imaging are not currently available.