Maxillofacial Aspects in Malignant Osteopetrosis

Abstract

Malignant osteopetrosis (MO) is a rare hereditary disease that affects young children. Its physiopathology is explained by a basic defect in osteoclast precursor cells, with a radiographic image of diffuse sclerosis and increased bone density. The bone contains an increased number of structurally abnormal osteoclasts. Infections commonly occur because the neutrophils exhibit reduced chemotactic response and decreased ability of bacterial phagocytosis. A white female patient aged 9 months, of mixed descent, was diagnosed at birth as having MO after bone marrow biopsy. Dental examination revealed the presence of four teeth, all of which had enamel hypoplasia and no carious lesions. After bone marrow transplantation (BMT), an erythematous lesion appeared on the alveolar ridge on day 2, with signs of tooth exfoliation. On day 7, there was gingival bleeding, edema, and erythema at the region of the maxillary incisors with grade 3 mobility, without changes in food intake. Concerning the oral cavity, the patient maintained grade 1 tooth mobility without tooth exfoliation or other oral alterations. Accurate diagnosis and careful therapeutic planning are important to avoid the secondary complications of the disease.