Early Diagnosis of Familial Expansile Osteolysis Through Dental Findings – Multiple External Root Resorption
By Su-Min Lee, DDS, MSD, DScD
Systemic conditions can sometimes manifest in the oral cavity, and this case highlights the importance of early detection by dental professionals. A 10-year-old female presented with external root resorption (ERR) of her permanent teeth, eventually leading to the diagnosis of a rare systemic condition—Familial Expansile Osteolysis (FEO).
The patient, referred to the Pediatric Dental Clinic at the University of Pennsylvania, had a history of profound deafness, cochlear implants, and congenitally missing ossicles. Her medical history showed no other clear markers, though her mother had autoimmune disorders. Panoramic radiographs from 2014 showed early signs of root resorption in primary teeth, which progressed significantly over the years, affecting permanent incisors by 2019 (Figure 1).
Figure 1. Panoramic radiograph of the patient taken in March 2019. Root resorption of the permanent maxillary and mandibular central incisors is observed at ten years of age.
Clinical examination revealed no active caries, but numerous teeth showed Class I mobility. Cone Beam Computed Tomography (CBCT) scans confirmed extensive ERR in several permanent teeth (Figure 2), prompting referral to genetics and endocrinology for further evaluation.
Figure 2. Periapical radiographs and cone beam computed tomography (CBCT) images of the patient taken in March 2019.
After extensive testing, the patient was diagnosed with FEO, a rare genetic disorder characterized by progressive bone resorption. Early clinical features of FEO include hearing loss and premature loss of teeth, both of which the patient had experienced. Lab results indicated a possible mineralization disorder, and bisphosphonate therapy was recommended to slow the progression of the disease.
The patient’s treatment included intravenous bisphosphonate infusions every six months. However, CBCT scans over time showed continued progression of ERR, eventually leading to the extraction of the mandibular central incisors. Unfortunately, despite the bisphosphonate therapy, ERR continued to develop in newly erupted teeth (Figure 3).
Figure 3. CBCT images of the patient taken in March 2023.
FEO can have severe skeletal manifestations, but this case demonstrates how dental findings, particularly ERR, can be an early marker for systemic diseases. Pediatric dentists and Endodontists are often in a unique position to detect such conditions early, leading to appropriate referrals and interdisciplinary care. While clear treatment protocols for ERR are still developing, a combination of endodontic and surgical interventions may be necessary to manage these cases effectively. Unfortunately, this patient’s case also highlights the limitations of bisphosphonate therapy in preventing ERR progression.
This case emphasizes the importance of considering systemic and genetic factors in unexplained ERR cases. Dental professionals can play a vital role in the early detection of serious systemic conditions, facilitating timely intervention and interdisciplinary collaboration. Regular CBCT monitoring is recommended to assess the effectiveness of treatments like bisphosphonate infusion in managing progressive dental resorption.
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Dr. Su-Min Lee, DDS, MSD, DScD is an educator at the University of Pennsylvania (UPenn), where she is an assistant professor of endodontics and a director of the Endodontic Clinic. She is a practicing endodontist at Penn Dental Family Practice in Philadelphia, PA. Dr. Lee earned her DDS and MSD in South Korea at the Chosun University College of Dentistry before earning her DScD and DMD at the UPenn School of Dental Medicine.