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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Publicado en:Balkan Medical Journal Vol. 42; no. 1; pp. 5 - 14
Autores principales: Haşlak, Fatih, Akay, Nergis, Gül, Ümit, Günalp, Aybüke, Könte, Elif Kılıç, Şahin, Sezgin, Kasapçopur, Özgür
Formato: diagnostic images pictorial review tables/charts Journal Article
Publicado: Galenos Yayinevi Tic. LTD. STI Jan2025
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jan2025
      vid: 42
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      pub: Galenos Yayinevi Tic. LTD. STI
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        10.4274/balkanmedj.galenos.2024.2024-11-129
        182029542
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        atl: Autoinflammatory Bone Diseases.
      aug:
        au:
          Haşlak, Fatih
          Akay, Nergis
          Gül, Ümit
          Günalp, Aybüke
          Könte, Elif Kılıç
          Şahin, Sezgin
          Kasapçopur, Özgür
        affil: Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye
      sug:
        subj:
          Bone Diseases
          Hereditary Autoinflammatory Diseases
          Genetics, Medical
          Genetic Research
          Musculoskeletal Diseases Complications
          Genetic Screening
          Bone Diseases Symptoms
          Bone Diseases Diagnosis
          Bone Diseases Familial and Genetic
          Bone Diseases Etiology
          Bone Diseases Therapy
          Bone Diseases Pathology
          Hereditary Autoinflammatory Diseases Symptoms
          Hereditary Autoinflammatory Diseases Diagnosis
          Hereditary Autoinflammatory Diseases Familial and Genetic
          Hereditary Autoinflammatory Diseases Etiology
          Hereditary Autoinflammatory Diseases Therapy
          Hereditary Autoinflammatory Diseases Pathology
      ab: 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.
      pubtype: Academic Journal
      doctype:
        diagnostic images
        pictorial
        review
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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