Autoinflammatory Bone Diseases
Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflamma...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2025-01-01
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| Series: | Balkan Medical Journal |
| Online Access: | https://balkanmedicaljournal.org/text.php?lang=en&id=2666 |
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| author | Fatih Haşlak Nergis Akay Ümit Gül Aybüke Günalp Elif Kılıç Könte Sezgin Şahin Özgür Kasapçopur |
| author_facet | Fatih Haşlak Nergis Akay Ümit Gül Aybüke Günalp Elif Kılıç Könte Sezgin Şahin Özgür Kasapçopur |
| author_sort | Fatih Haşlak |
| collection | DOAJ |
| description | Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination. The most common and representative AIBD is chronic non-bacterial osteomyelitis (CNO), which is also known as chronic recurrent multifocal osteomyelitis. Another variant of CNO, which is typically observed in older teenagers or adults, is known as synovitis, acne, hyperostosis, pustulosis, osteitis syndrome. This condition is distinguished by its notable skin manifestations. Advancements in genetic research have led to the identification of three novel monogenic subtypes within the category of AIBDs. These include Majeed syndrome, pyogenic arthritis, pyoderma gangrenosum, and acne syndrome, and interleukin-1 receptor antagonist deficiency syndrome. Another monogenic AIBD, called cherubism, affects only the maxilla and mandible. Data on the diagnosis and treatment of these rare diseases are extremely limited. However, if not diagnosed and treated promptly, it can result in significant complications, including severe disability and mortality. Thus, it is imperative to maintain a high level of clinical awareness of these diseases. These rare diagnoses should be considered in patients with musculoskeletal complaints in whom no specific etiology can be identified or in patients with systemic manifestations such as cutaneous and gastrointestinal symptoms or fever. In such patients, the diagnostic process, which encompasses imaging and genetic studies, should be initiated promptly. |
| format | Article |
| id | doaj-art-984ede88409d42e8abf34237c6bbd835 |
| institution | Kabale University |
| issn | 2146-3123 2146-3131 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Balkan Medical Journal |
| spelling | doaj-art-984ede88409d42e8abf34237c6bbd8352025-01-07T12:04:35ZengGalenos Publishing HouseBalkan Medical Journal2146-31232146-31312025-01-0142151310.4274/balkanmedj.galenos.2024.2024-11-129Autoinflammatory Bone DiseasesFatih Haşlak0https://orcid.org/0000-0002-6963-9668Nergis Akay1https://orcid.org/0000-0001-6102-4055Ümit Gül2https://orcid.org/0000-0002-1282-8273Aybüke Günalp3https://orcid.org/0000-0003-0137-0460Elif Kılıç Könte4https://orcid.org/0000-0002-8174-5308Sezgin Şahin5https://orcid.org/0000-0002-5365-3457Özgür Kasapçopur6https://orcid.org/0000-0002-1125-7720Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TürkiyeAutoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination. The most common and representative AIBD is chronic non-bacterial osteomyelitis (CNO), which is also known as chronic recurrent multifocal osteomyelitis. Another variant of CNO, which is typically observed in older teenagers or adults, is known as synovitis, acne, hyperostosis, pustulosis, osteitis syndrome. This condition is distinguished by its notable skin manifestations. Advancements in genetic research have led to the identification of three novel monogenic subtypes within the category of AIBDs. These include Majeed syndrome, pyogenic arthritis, pyoderma gangrenosum, and acne syndrome, and interleukin-1 receptor antagonist deficiency syndrome. Another monogenic AIBD, called cherubism, affects only the maxilla and mandible. Data on the diagnosis and treatment of these rare diseases are extremely limited. However, if not diagnosed and treated promptly, it can result in significant complications, including severe disability and mortality. Thus, it is imperative to maintain a high level of clinical awareness of these diseases. These rare diagnoses should be considered in patients with musculoskeletal complaints in whom no specific etiology can be identified or in patients with systemic manifestations such as cutaneous and gastrointestinal symptoms or fever. In such patients, the diagnostic process, which encompasses imaging and genetic studies, should be initiated promptly.https://balkanmedicaljournal.org/text.php?lang=en&id=2666 |
| spellingShingle | Fatih Haşlak Nergis Akay Ümit Gül Aybüke Günalp Elif Kılıç Könte Sezgin Şahin Özgür Kasapçopur Autoinflammatory Bone Diseases Balkan Medical Journal |
| title | Autoinflammatory Bone Diseases |
| title_full | Autoinflammatory Bone Diseases |
| title_fullStr | Autoinflammatory Bone Diseases |
| title_full_unstemmed | Autoinflammatory Bone Diseases |
| title_short | Autoinflammatory Bone Diseases |
| title_sort | autoinflammatory bone diseases |
| url | https://balkanmedicaljournal.org/text.php?lang=en&id=2666 |
| work_keys_str_mv | AT fatihhaslak autoinflammatorybonediseases AT nergisakay autoinflammatorybonediseases AT umitgul autoinflammatorybonediseases AT aybukegunalp autoinflammatorybonediseases AT elifkılıckonte autoinflammatorybonediseases AT sezginsahin autoinflammatorybonediseases AT ozgurkasapcopur autoinflammatorybonediseases |