Table 4.
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 5 a . Radiation-sparing treatments are again recommended if a brain tumor should occur |
Data to support optimal frequency and timing of imaging are not currently available.