Autoimmune rheumatic diseases (AIRDs) are known for their systemic presentations and multi-organ involvement. Numerous infectious diseases, particularly mycobacterial, fungal and indolent bacterial infections endemic to specific geographic regions, present with varied signs and symptoms of multi-system involvement and can mimic AIRDs. Thus, differentiating infection from an AIRD is critical to resolve competing treatment approaches. This…
Saddle Nose & Cauliflower Ear Deformities in Relapsing Polychondritis These images depict a 32-year-old man who presented with five weeks of left-sided hearing loss, weight loss and discomfort in the nose, ear, chest wall and knee. He had an erythrocyte sedimentation rate (ESR) of 120 mm/hr, and a C-reactive protein level of 225.4 mg/L. The…
A large, international team of rheumatologists, geneticists, hematologists and other researchers has discovered a severe inflammatory syndrome linked to an acquired genetic mutation in the bone marrow of older men. The X-linked syndrome, they found, is caused by a somatic mutation in myeloid stem cells that hobbles the master regulator of a pathway tasked with…
Challenges related to diagnosing chondritis are discussed.
Relapsing polychondritis (RPC) is a systemic and, in some cases, fatal disease. Dyspnea with findings of small airway disease—even in the absence of the more commonly associated tracheobronchial abnormalities or pathognomonic clinical findings, such as saddle nose and cauliflower ear—may be presenting signs and symptoms of relapsing polychondritis. Below, we present a case demonstrating that…