Clinical value of Tc-99m MDP SPECT/CT bone imaging for early diagnosis of Relapsing Polychondritis: a report of 5 cases.

BACKGROUND: Relapsing Polychondritis(RP) is a rare rheumatic immune disease. As with most diseases, if intervention is delayed, the patient's prognosis is worse. Currently, the diagnostic criteria used in clinical practice do not include CT, PET/CT, SPECT/CT and other new imaging examinations that have developed rapidly in recent years. However, these examinations have some special manifestations for RP, which can help clinicians diagnose RP earlier and distinguish it from other diseases. CASE PRESENTATION: These five RP patients all had respiratory symptoms such as cough and wheezing as the first symptom, which could not be diagnosed in time according to the previous diagnostic criteria. The clinical data of the five patients are listed in Table 1. The relatively specific manifestations of SPECT/CT examination provided clinicians with very valuable clues to help them advance the diagnosis time. CONCLUSIONS: The application of SPECT/CT bone imaging in early diagnosing RP proves to be effective, enabling clinicians to intervene promptly and enhance the overall well-being and quality of life for individuals affected by this condition.

Hemophagocytic lymphohistiocytosis triggered by relapsing polychondritis: A case report.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disorder caused by abnormal histiocytes and T cell activation. In adults, it is predominantly associated with infections, cancers, and autoimmune diseases. Relapsing polychondritis (RP), another rare disease, is diagnosed based on symptoms without specific tests, featuring cartilage inflammation characterized by swelling, redness, and pain, rarely inducing HLH. CASE SUMMARY: A 74-year-old woman visited the emergency room with a fever of 38.6 °C. Blood tests, cultures, and imaging were performed to evaluate fever. Results showed increased fluorescent antinuclear antibody levels and mild cytopenia, with no other specific findings. Imaging revealed lymph node enlargement was observed; however, biopsy results were inconclusive. Upon re-evaluation of the physical exam, inflammatory signs suggestive of RP were observed in the ears and nose, prompting a tissue biopsy for confirmation. Simultaneously, persistent fever accompanied by cytopenia prompted a bone marrow examination, revealing hemophagocytic cells. After finding no significant results in blood culture, viral markers, and tissue examination of enlarged lymph nodes, HLH was diagnosed by RP. Treatment involved methylprednisolone followed by azathioprine. After two months, bone marrow examination confirmed resolution of hemophagocytosis, with normalization of hyperferritinemia and pancytopenia. CONCLUSION: Thorough physical examination enabled diagnosis and treatment of HLH triggered by RP in patients presenting with fever of unknown origin.

A multicenter study of long-term outcomes of relapsing polychondritis in Iran.

Relapsing polychondritis (RP) is a systemic immune mediated disease characterized by recurrent episodes of inflammation in various cartilage-rich areas. RP may cause extensive tissue destruction and is associated with significant morbidity and mortality. In this multicenter study, we considered the remission status and long-term outcomes of RP in patients who were followed-up in six referral rheumatology centers in Iran. Outcomes of disease was assessed by remission status and RP induced damage. A total of 29 patients with RP were examined for enrollment in the study, and 26 patients with a minimum follow-up period of 6 months were included in the RP outcome analysis. Median time to control of symptoms and sustained remission were 5 and 23 weeks, respectively. Prednisolone was discontinued in 8 (30.8%) patients and medication-free remission was achieved in 7 (23.1%) patients. Regarding the disease course, 34.6% of patients had a relapsing-remitting course, 42.3% had a monophasic course, and 23.1% had an always-active course. Despite extensive treatment with immunosuppressive medications, RP induced damage was developed in 21 (80.8%) patients. Ear deformity and osteoporosis were the most common RP induced damage. Long-term remission and medications-free remission in RP is accessible. However, RP related damage occur in majority of patients.

A Case of Relapsing Polychondritis: Unmasking the Otitis Externa Mimic.

Relapsing polychondritis (RPC) is a rare autoimmune condition that often mimics recurrent external otitis. This multisystemic disease primarily affects cartilaginous structures in the body, with the ear pinna being the most commonly impacted. RPC is associated with elevated inflammatory markers and antinuclear antibodies (ANA), and it can lead to chondral destruction. Our case is a 74-year-old Caucasian male with a history of peripheral vascular disease (PVD) who presented to the clinic with recurrent, painful swelling of the right upper ear for 14 days despite multiple antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs). He had chronic sensorineural hearing loss in the same ear. He was seen multiple times with identical symptoms in the last seven months and was diagnosed with otitis externa. He denied arthritis, fatigue, rash, abrasion, allergies, trauma, or fever. He was prescribed antimicrobials, alternating NSAIDs, and methylprednisolone with temporary relief. He is only on statins and has an unremarkable family history. He was afebrile with normal vital signs. On physical examination, he was not in acute distress and had a normal voice but had a diffusely erythematous, tender, swollen right ear pinna and external canal sparing the lobe. The rest of the physical examination was unremarkable. Laboratory results showed elevated C-reactive protein (CRP) of 100 mg/L (normal range: <3 mg/L) and erythrocyte sedimentation rate (ESR) of 200 mm/hour (normal range: <20 mm/hour). ANA titer is 1:160 with a homogenous pattern, but other autoantibodies were negative. No red flags were noted on the complete blood count (CBC) or comprehensive metabolic panel (CMP), and his rapid plasma reagin (RPR) test was negative. In this patient, prednisone 60 mg daily was initiated as monotherapy, and rheumatology was also consulted. The patient sought consultation due to recurrent and persistent upper ear infections despite antibiotic treatment and was ultimately diagnosed with a rare medical condition called relapsing polychondritis. Following this treatment, the auricular chondritis improved promptly. The steroid dosage was then slowly tapered and maintained at 10 mg daily to prevent flare-ups. Subsequently, after the initiation of corticosteroids, inflammatory markers trended down to normal levels.

Diagnosis and Evaluation of Treatment Response in Relapsing Polychondritis Using 18F-FDG PET/CT.

A 58-year-old man presenting with dyspnea, weight loss, and night sweating underwent 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) because of a suspicion of malignancy. 18F-FDG PET/CT demonstrated mild to moderate uptake on nasal, cricoid, and tracheobronchial tree cartilages and costovertebral junctions. The diagnosis was relapsing polychondritis, which is a rare multisystem disease characterized by inflammation of cartilage. In addition, subsequent 18F-FDG PET/CT after treatment showed complete metabolic response.

Unusual cause of the left main bronchus stenosis: relapsing polychondritis.

Relapsing polychondritis is a rare disease that causes inflammation and destruction of cartilage and connective tissue. It can be associated with other autoimmune rheumatologic and hematologic diseases. Herein, we report a 38-year-old male patient with relapsing polychondritis and diffuse stenosis of the left main bronchus.

A Rare Post-Infectious Autoimmune Manifestation of COVID-19.

The incidence of post-infectious autoimmune diseases has been on the rise following the COVID-19 pandemic. Recently, an autistic patient was admitted to the hospital presenting with a mild upper respiratory system COVID-19 infection. Months after recovery and polymerase chain reaction negativity, the patient developed HEp-2 cell positivity and presented with relapsing polychondritis (RP), a rare autoimmune disease. The mechanism of this autoimmune invasion is ultimately caused by activating a myriad of immune reactions. Lymphocytopenia almost always accompanies various clinical forms of COVID-19; however, it may drive the lymphocytopenia-induced proliferation of autoreactive T cells via the activation of interleukin-6 (IL-6). Moreover, high levels of neutrophils during infection promote autoimmune disease by releasing cytokine and chemokine cascades that accompany inflammation, and neutrophil extracellular traps regulating immune responses through cell-cell interactions. Furthermore, autism spectrum disorder patients display an altered immune system that includes an augmented inflammatory cytokine milieu leading to an increased pro-inflammatory Th1/Th2 ratio. In addition, the pathophysiology of RP is majorly associated with a cell-mediated immune reaction; thus, the predisposing exaggerated immune system of such patients must also be considered as a predisposing factor to the development of post-infectious autoimmune diseases. LEARNING POINTS: COVID-19 infection is a potential trigger for relapsing polychondritis, an autoimmune disease affecting cartilage, and must be considered as a rare post-COVID complication.The hyperactive immune system in autism spectrum disorder (ASD) is an important predisposing factor to the induction of more autoimmune diseases after the occurrence of post-infectious dysregulation.Lymphocytopenia-induced proliferation possibly initiates the post-infection immune dysregulation.

[Tracheobronchial involvement in relapsing polychondritis and differential diagnoses]. / Atteinte trachéo-bronchique de la polychondrite atrophiante et diagnostics différentiels.

Relapsing polychondritis is a systemic auto-immune disease that mainly affects cartilage structures, progressing through inflammatory flare-ups between phases of remission and ultimately leading to deformation of the cartilages involved. In addition to characteristic damage of auricular or nasal cartilage, tracheobronchial and cardiac involvement are particularly severe, and can seriously alter the prognosis. Tracheobronchial lesions are assessed by means of a multimodal approach, including dynamic thoracic imaging, measurement of pulmonary function (with recent emphasis on pulse oscillometry), and mapping of tracheal lesions through flexible bronchoscopy. Diagnosis can be difficult in the absence of specific diagnostic tools, especially as there may exist a large number of differential diagnoses, particularly as regards inflammatory diseases. The prognosis has improved, due largely to upgraded interventional bronchoscopy techniques and the development of immunosuppressant drugs and targeted therapies, offering patients a number of treatment options.

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies.

Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.

VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03-5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.

Beyond the Earlobe: Navigating the Complexities of Relapsing Polychondritis.

A 27-year-old male with no significant past medical history presented with recurrent swelling and pain on the right superior crus of the antihelix initially misdiagnosed as a skin infection. Despite adherence to antibiotic treatment, his condition showed no improvement, leading to further investigation. The patient's detailed clinical examination, family history devoid of autoimmune disorders, and persistent auricular inflammation prompted a reconsideration of the diagnosis. A subsequent biopsy that captured cartilage revealed auricular chondritis, perichondrial inflammation, degeneration of cartilage, and infiltration by inflammatory cells, all of which have been clinically associated with relapsing polychondritis (RP). Relapsing polychondritis (RP) is a rare autoimmune disorder characterized by recurrent inflammation of cartilaginous structures, often leading to progressive anatomical deformation and functional impairment. While RP's pathogenesis involves complex autoimmune mechanisms, its diagnosis is challenging due to its varied clinical presentations. This case highlights the diagnostic challenges of atypical presentations of RP and underscores the importance of considering RP in differential diagnoses of persistent auricular inflammation. It also emphasizes the role of corticosteroids in managing RP and the potential for novel therapeutic pathways, such as Janus kinase inhibitors, in treatment. The case contributes to a deeper understanding of RP's clinical spectrum and management strategies, stressing the need for heightened clinical suspicion in similar atypical cases.

Cochlear Implantation in a Case of Relapsing Polychondritis With Profound Hearing Loss and Labyrinthine Ossification.

Relapsing polychondritis is an autoimmune disorder causing inflammation of cartilaginous structures, sensory epithelium, and cardiovascular system. Hearing loss is a rare and dreadful complication of this pathology. We report a case of relapsing polychondritis in a 38-year-old female who developed gradually progressive bilateral profound hearing loss. She did not have any improvement with medical management. Cochlear implantation was performed to rehabilitate her hearing. As the scala tympani was obliterated, a scala vestibuli insertion was performed. A complete insertion was possible with a compressed electrode, and she had good evoked compound action potential scores. Her categories of auditory performance scores were 6 at the end of one year. Patients with relapsing polychondritis can progress to profound hearing loss in rare cases and should be carefully followed up to identify early labyrinthine ossification. A scala vestibuli insertion can be performed with good outcomes in cases with ossification involving scala tympani. The surgeon should be ready for a middle-turn cochleostomy or a drill-out procedure in patients with advanced ossification.

Risk factors associated with severe adverse events in patients with relapsing polychondritis undergoing flexible bronchoscopy.

BACKGROUND: Patients with relapsing polychondritis (RP) sometimes experience upper airway collapse or lower airway stenosis, and bronchoscopy may provide a valuable typical image to confirm the diagnosis. This study aimed to identify potential risk factors associated with severe adverse effects during bronchoscopy. METHODS: We performed a retrospective cohort study of 82 consecutive patients with RP hospitalized at Peking Union Medical College Hospital between January 1, 2012 and December 31, 2022. Clinical features and disease patterns were compared among patients with RP undergoing bronchoscopy with or without severe adverse effects. Binary logistic regression analysis was performed to identify the associated risk factors. RESULTS: For patients with RP undergoing bronchoscopy with severe adverse effects, the forced vital capacity (FVC), forced vital capacity percent predicted values (FVC%), and peak expiratory flow were significantly lower (P = 0.001, P = 0.001, and P = 0.021, respectively) than those in the non-severe adverse effect subgroup. Binary logistic regression analysis revealed that low FVC% (odds ratio, 0.930; 95% confidence interval, 0.880-0.982; P = 0.009) was an independent risk factor for severe adverse events in patients undergoing bronchoscopy. CONCLUSIONS: Low FVC or FVC% suggests a high risk of severe adverse effects in patients with RP undergoing bronchoscopy. Patients with such risk factors should be carefully evaluated before bronchoscopy and adequately prepared for emergency tracheal intubation or tracheostomy.

Superior Orbital Fissure Syndrome in the Setting of Relapsing Polychondritis with Concurrent Sjogren's Syndrome: A Case Report.

PURPOSE: Ophthalmic manifestations of varying severity are often associated with systemic autoimmune conditions. Superior orbital fissure syndrome (SOFS) is a rare cranial neuropathy affecting nerves passing through the superior orbital fissure that causes a distinctive pattern of extraocular and pupillary findings. We report the coexistence of SOFS, relapsing polychondritis (RP) and Sjögren's syndrome (SS) in a 52-year-old female who presented with a past medical history of hypothyroidism, Raynaud's syndrome, and intermittent dry mouth and a 1-week history of worsening chemosis, proptosis, diplopia, and painful ophthalmoplegia. METHODS: Following a comprehensive eye examination, the patient underwent a CT head with contrast, MRI of the orbit, lumbar puncture, and laboratory investigations. RESULTS: CT and MRI examination revealed inflammatory standing in periorbital subcutaneous soft tissues and bilateral exophthalmos with right intraconal fat stranding surrounding the intraorbital and intracanalicular segments of the nerve, respectively. Lumbar puncture and laboratory investigations revealed an elevation in inflammatory biomarkers, a negative infectious workup, and ruled in SS when considering her history alongside a positive Schirmer test. She was started on high-dose steroids, which led to significant improvement; however, treatment revealed type 2 diabetes, necessitating a faster steroid taper, during which there was a reoccurrence of scleritis and ophthalmoplegia, leading to the initiation of rituximab infusions. After completing rituximab course, she was transitioned back to steroid therapy and was successfully tapered without event. CONCLUSION: This case is notable for the rare coexistence of SOFS with RP/SS overlap syndrome and highlights the management of concurrent orbital inflammatory syndrome and autoimmune diseases.

Autoimmunity and Autoinflammation: Relapsing Polychondritis and VEXAS Syndrome Challenge.

Relapsing polychondritis is a chronic autoimmune inflammatory condition characterized by recurrent episodes of inflammation at the level of cartilaginous structures and tissues rich in proteoglycans. The pathogenesis of the disease is complex and still incompletely elucidated. The data support the important role of a particular genetic predisposition, with HLA-DR4 being considered an allele that confers a major risk of disease occurrence. Environmental factors, mechanical, chemical or infectious, act as triggers in the development of clinical manifestations, causing the degradation of proteins and the release of cryptic cartilage antigens. Both humoral and cellular immunity play essential roles in the occurrence and perpetuation of autoimmunity and inflammation. Autoantibodies anti-type II, IX and XI collagens, anti-matrilin-1 and anti-COMPs (cartilage oligomeric matrix proteins) have been highlighted in increased titers, being correlated with disease activity and considered prognostic factors. Innate immunity cells, neutrophils, monocytes, macrophages, natural killer lymphocytes and eosinophils have been found in the perichondrium and cartilage, together with activated antigen-presenting cells, C3 deposits and immunoglobulins. Also, T cells play a decisive role in the pathogenesis of the disease, with relapsing polychondritis being considered a TH1-mediated condition. Thus, increased secretions of interferon γ, interleukin (IL)-12 and IL-2 have been highlighted. The "inflammatory storm" formed by a complex network of pro-inflammatory cytokines and chemokines actively modulates the recruitment and infiltration of various cells, with cartilage being a source of antigens. Along with RP, VEXAS syndrome, another systemic autoimmune disease with genetic determinism, has an etiopathogenesis that is still incompletely known, and it involves the activation of the innate immune system through different pathways and the appearance of the cytokine storm. The clinical manifestations of VEXAS syndrome include an inflammatory phenotype often similar to that of RP, which raises diagnostic problems. The management of RP and VEXAS syndrome includes common immunosuppressive therapies whose main goal is to control systemic inflammatory manifestations. The objective of this paper is to detail the main etiopathogenetic mechanisms of a rare disease, summarizing the latest data and presenting the distinct features of these mechanisms.

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.

BACKGROUND: Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP. We included 44 patients with RP. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood. Droplet digital polymerase chain reaction (ddPCR) was performed to screen low-prevalence somatic variants. RESULTS: Multiple ddPCR detections were performed using available blood samples collected at different follow-up time points. Three male patients were UBA1 somatic mutation carriers. Sanger sequencing detected the somatic UBA1 variant c.122T > C (p.Met41Thr) in two male patients. Initial ddPCR confirmed the variant in the two patients, with allele fractions of 73.75% and 88.46%, respectively, while yielding negative results in other patients. Subsequent ddPCR detected the somatic variant (c.122T > C) with low prevalence (1.02%) in another male patient from blood samples collected at a different time point, and confirmed dynamically fractional abundance in one patient with VEXAS, with allele fractions of 73.75%, 61.28%, 65.01%, and 73.75%. Nine patients assessed by ddPCR at different time points remained negative. CONCLUSION: We report UBA1 variants in patients with RP in the Chinese population for the first time. Multiple ddPCR detections from samples collected at different time points can enhance sensitivity and should be considered for patients with initial negative ddPCR results.

Successful Response to Golimumab in a Case of Relapsing Polychondritis Overlapping with Ulcerative Colitis.

A 51-year-old Japanese man was diagnosed with left-sided ulcerative colitis (UC) at age 41. He was treated with mesalazine and azathioprine and maintained remission. At age 51, the patient developed bloody stools, abdominal pain, scleritis, arthritis, cough, bloody sputum, and pericardial effusion. Considering that pericardial effusion is an atypical extraintestinal complication of UC, and the patient met the diagnostic criteria for relapsing polychondritis (RP), a diagnosis of RP complicating a relapse of UC was made. Steroid therapy was administered, and both diseases improved. Golimumab, an anti-tumor necrosis factor-α inhibitor, was introduced as maintenance therapy for UC. All symptoms, including pericardial effusion, improved. Subsequently, no relapse of UC or RP was observed. As only a few cases of RP overlapping with UC have been reported and no treatment protocol has been established, we considered this case valuable and worthy of publication.

Ocular Inflammation as the First Sign of Relapsing Polychondritis in Hispanic Patients: Report of Three Cases.

BACKGROUND: Relapsing polychondritis (RP) is a rare inflammatory systemic disease characterized by recurrent inflammatory episodes of cartilaginous and proteoglycan-rich tissues, particularly ears, nose, respiratory tract, eyes, and joints. PURPOSE: To present the clinical features, management, and prognosis of three Hispanic patients presenting with RP and ocular involvement as the first manifestation of the disease. CONCLUSION: This study extends the knowledge regarding ocular disease characteristics in patients with RP. Furthermore, it increases ophthalmologists' awareness of the findings, leading to earlier diagnoses and adequate treatment for improved patients' prognoses.

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community.

Unveiling the clinical spectrum of relapsing polychondritis: insights into its pathogenesis, novel monogenic causes, and therapeutic strategies

Abstract Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.