Etiology • Autosomal-dominant condition • Loss of heterozygosity at chromosome 9q22.3 • Mutation of PTCH tumor suppressor gene
Clinical Presentation • Multiple jaw cysts (odontogenic keratocysts) • Numerous cutaneous basal cell carcinomas, which arise earlya
in life and are independent of sun exposure • Bifid ribs • Calcification of falx cerebri • Ocular hypertelorism • Mandibular prognathism • Broad nasal bridge • Medulloblastoma • Palmar and plantar pits
Clinical Presentation • Multiple jaw cysts (odontogenic keratocysts) • Numerous cutaneous basal cell carcinomas, which arise earlya
in life and are independent of sun exposure • Bifid ribs • Calcification of falx cerebri • Ocular hypertelorism • Mandibular prognathism • Broad nasal bridge • Medulloblastoma • Palmar and plantar pits
Radiographic Findings • Multiple jaw radiolucencies • Lamellar calcification of falx cerebri • Bifid rib on abdominal radiograph
Diagnosis • Radiographic and clinical findings
Differential Diagnosis • Other syndromes, such as the following:
• Charcot-Marie syndrome • Waardenburg’s syndrome
Treatment • Excision of basal cell carcinomas and odontogenic keratocysts • Excision of other related aggressive tumors at other sites • Genetic counseling
Prognosis • Guarded