Multiple External Root Resorption in a Pediatric Patient with Familial Expansile Osteolysis

Area of Science:

• Dentistry
• Genetics
• Pathology

Background:

• External root resorption (ERR) is a pathological process that can lead to tooth loss.
• Systemic and genetic abnormalities are associated with ERR.
• Familial expansile osteolysis (FEO) is an autosomal dominant disease presenting with skeletal defects, deafness, and root resorption.

Observation:

• A 10-year-old female with FEO, born with missing ossicles and deafness, presented with advanced ERR in permanent teeth.
• The patient was diagnosed with FEO at age 10 following dental examination.
• Diagnostic tests and treatments for the patient are detailed.

Findings:

• FEO is a significant, though rare, cause of unexplained external root resorption.
• Early identification of FEO is critical for managing its systemic and dental manifestations.
• The case highlights the link between genetic disorders and dental pathology.

Implications:

• Dental professionals should consider systemic and genetic factors in unexplained ERR cases.
• Genetic testing can aid in diagnosing conditions like FEO.
• Timely diagnosis of FEO can prevent further skeletal and dental complications.