Otorhinolaryngological manifestations of autoinflammatory diseases. Systematic review

Objectives: To detail the main otorhinolaryngological manifestations of autoinflammatory diseases, aiming to contribute to early diagnosis and treatment.

Data sources: Searches were conducted in PubMed, LILACS, Cochrane Library.

Review methods: A systematic review of the medical literature on autoinflammatory diseases was conducted to identify characteristic head and neck manifestations, using PRISMA criteria. Observational studies or systematic reviews with a minimum of 10 cases per disease were included. Qualitative synthesis and a risk assessment were carried out.

Results: Our review included 29 articles that met the inclusion criteria, with 10 to 486 patients per study. Autoinflammatory diseases with characteristic head and neck manifestations included VEXAS syndrome (auricular, nasal, or laryngotracheal chondritis), NPRL3-AID (hearing loss), NPRL12-AID (cervical lymphadenopathies, hearing loss and oral ulcers), HIDSs syndrome (painful cervical nodes and oral ulcers), haploinsufficiency A20 (oral ulcers), TRAPS (pharyngitis, aphthous stomatitis, periorbital edema, and cervical lymphadenopathies), Behcet's disease (oral and pharyngeal ulcers), PFAPA syndrome (recurrent tonsillitis, oral ulcers, and painful cervical adenopathies), Kawasaki disease (cervical nodes, pharyngitis and changes in oral mucosa) and undefined periodic fever (pharyngitis, oral ulcers, and painful cervical nodes).

Conclusion: Given their complex diagnosis and unique head and neck manifestations, otolaryngologists must be well-versed in these diseases for early detection and treatment. ENT specialists should consider the possibility of an autoinflammatory disease when encountering symptoms such as auricular, nasal, or laryngeal chondritis, recurrent oral ulcers, painful inflammatory lymphadenopathies, periorbital edema, recurrent pharyngitis, or hearing loss within the context of compatible systemic conditions.