Ostemielite crônica não bacteriana em gemelares - relato de caso

Abstract

Chronic non-bacterial osteomyelitis (CNO) is a rare disease in the spectrum of autoinflammatory bone diseases, which are characterized by aseptic inflammation of the bone, not caused by autoimmune or infectious conditions, resulting from innate immune system dysregulation and imbalance of cytokines pro and anti-inflammatory. Methodology: This study is a case report, made after consent from the patient's guardian through reading and signing the Informed Consent Form (ICF), based on data from the medical consultation and medical record review. Case report: This work presents the clinical case of two patients, identical twin sisters, 12 years old, diagnosed with Chronic Non-Bacterial Osteomyelitis, who developed the disease individually in a different way. Discussion: The use of different nomenclatures for Chronic Non-Bacterial Osteomyelitis and its varied clinical spectrum and the lack of diagnostic criteria are two factors that made a difficult diagnosis and result in delay. The sporadic CNO familial clustering and association between others inflammatory conditions in these patients and their first-degree relatives suggest an important genetic predisposition, which is still poorly elucidated. Conclusion: The adoption of a universal nomenclature and the development of diagnostic criteria well accepted by the Medical Community are necessary for better recognition and diagnosis of this disease. Furthermore, more studies are needed to clarify the role of genetics and environmental factors in the expression and development of sporadic OCNB.