- Genetics
- Autosomal Dominant
- Germline pathogenic variants in the human homolog of the patched (PTCH1) gene
- Clinical
- Multiple BCCs usually < 30 yrs
- Odontogenic keratocysts
- Ovarian fibromas
- Medulloblastoma
- Other features include palmar and plantar pits, craniofacial and skeletal abnormalities, ocular abnormalities, and ectopic intracranial calcifications
- Screening
- Regular skin checks