Multiple oral sinus tract and trismus leading to a surprising diagnosis of osteopetrosis: Case report.

Aims: We report a rare case of late diagnosis of malignant osteopetrosis in a 36-year-old male patient due to multiple intraoral sinus tracts and trismus.

Case Report: The patient reported a history of facial scars that could not be attributed to the older external fistulas that were present and various complicated dental extractions since infancy. In addition, the patient had not been previously diagnosed with any other significant diseases other than blindness since infancy. Computed tomography revealed a marble-like sclerotic pattern of all cranial bones, a thickened parietal bone, and a narrowing of the encephalic space and the optic canal. Further laboratory and imaging studies revealed complete sclerosed bone of the chest and pelvis, anemia, reticulocitosis, extramedular hematopoiesis, altered dehydrogenasis lactate, and acid phosphatasis. An interdisciplinary treatment was initiated with medical and dental care monitoring. The patient is still receiving attention after 4 years of follow-up.

Conclusions: The outcome of this case represents the daily challenges faced by interdisciplinary care providers and reveals pearls and pitfalls that can serve as a reference for professional practice in such cases.