Respiratory-predominant relapsing polychondritis: the role of PET scan in making this challenging diagnosis

Atypical presentations of relapsing polychondritis may present with isolated respiratory symptoms and constitutional signs in the absence of auricular or nasal chondritis.In older male patients with relapsing polychondritis features and myelodysplastic syndromes, vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome must be considered, requiring detection of somatic ubiquitin-like modifier-activating enzyme 1 gene mutations.When histopathology is unavailable, positron emission tomography imaging and clinical criteria are key to diagnosis.