Etiology:

AD – PTCH gene mutation

Clinical:

1. Dental:

• KCOT (keratocystic odontogenic tumour) – benign intraosseous neoplasm of jaw

2. Skin:

• Basal cell carcinoma
• Dermal cysts
• Palmer planter keratosis

3. Eyes:

• Hypertelorism
• Internal strabismus

4. Bone:

• Bifid ribs
• Vertebral anomalies

5. CNS:

• Calcified flax cerebri
• Retardation

6. Reproductive:

• Hypogonadism

Diagnosis:

Criteria:

• 2 major
• 1 major and 2 minor

Minor:

• Microencephaly
• Ovarian fibroma
• Medulloblastoma
• Syndactyl

X-ray:

• Bridging of sella turica
• Vertebral anomalies
• Modelling defects of hands and feet

Management:

• Surgical + medical/photodynamic therapy