Relapsing Polychondritis

This report describes a case of a Caucasian man in his 60s with bilateral sequential orbital inflammatory disease associated with relapsing polychondritis (RPC).He first presented with a subclavian vein periphlebitis/thrombosis and swollen left knee. Two weeks later, he developed right orbital inflammation with restricted eye movements. He was treated initially for possible orbital cellulitis. His inflammation failed to respond to antibiotics but rapidly resolved with oral prednisolone. One year later, he presented with left auricular inflammation, a maculopapular rash on his arms and torso and left orbital inflammation...

Relapsing polychondritis is a rare disease that affects cartilaginous structures throughout the body. Progressive destruction of the laryngeal structures and the tracheobronchial tree occurs in 50% of patients, potentially leading to loss of patency and collapse of the airway. Respiratory involvement in relapsing polychondritis includes airway stenosis, tracheomalacia and recurrent lung infections due to chronic inflammation caused by the destruction of upper and lower airway cartilage. Pregnancy and preeclampsia can worsen pharyngolaryngeal oedema, while treatment with magnesium sulphate can affect neuromuscular function, exacerbating the degree of airway collapse in the most serious cases of relapsing polychondritis, possibly altering obstetric outcomes...

Relapsing polychondritis (RPC) is a rare autoimmune disease characterized by recurrent inflammation of cartilaginous and proteoglycan-rich tissues throughout the body. The most commonly affected sites are the auricular pinna, nose, and joints with ocular tissue involvement occurring in up to 50% of patients. The most common ocular manifestations are scleritis, episcleritis, uveitis, and conjunctivitis. Less common ocular issues include keratitis, retinopathy, optic neuropathy, extraocular muscle palsy, and orbital inflammation...

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The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which encodes for a key enzyme of the ubiquitylation proteasome system. As a result, a shorter cytoplasmic isoform of UBA1 is transcribed, which is non-functional. The disease is characterized by non-specific and highly heterogeneous inflammatory manifestations and macrocytic anemia. VEXAS syndrome is a unique acquired hematological monogenic disease with unexpected association with hematological neoplasms...

BACKGROUND: Relapsing polychondritis (RP) is an inflammatory disease with significant individual heterogeneity that involves systemic cartilage tissues. This study aimed to perform a bibliometric analysis of RP-related publications to quantitatively assess the scholarly productivity in the field. METHODS: We extracted the RP-related original research articles and reviews published during 1960-2023 from the Web of Science database by using the keyword "relapsing polychondritis...

The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells. The clinical spectrum of the VEXAS syndrome currently comprises a broad range of phenotypes such as vasculitis, relapsing polychondritis and Sweet's syndrome. In the past, VEXAS patients have left clinicians puzzled and the true nature of this disease has not been captured until late 2020...

BACKGROUND: Granulomatosis with polyangiitis and relapsing polychondritis are rare, multisystemic and potentially life-threatening connective tissue diseases. We present two cases of severe endobronchial obstruction in the aforementioned conditions and discuss difficulties with detection and treatment. Despite differing underlying pathophysiologies, endobronchial disease is a less frequently reported but serious complication of both conditions. CASE PRESENTATION: Case 1, a 31-year-old South Asian woman with relapsing polychondritis, required partial tracheal resection and reconstruction in combination with immunosuppressive therapy to achieve respiratory recovery following collapse of her right main bronchus and a stricture in her left main bronchus...

BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome is a newly discovered inflammatory disease affecting male subjects, for which few data exist in the literature. Here, we describe the case of a patient with known Sweet's syndrome admitted to the intensive care unit and for whom a vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome was diagnosed, allowing for appropriate treatment and the patient's discharge and recovery. CASE PRESENTATION: A 70-year-old male White patient was hospitalized in the intensive care unit following an intrahospital cardiac arrest...

Behçet disease (BD) and relapsing polychondritis (RP) are chronic multisystem disorders characterized by recurrent flare-ups of tissue inflammation. Major clinical manifestations of BD are oral aphthae, genital aphthous ulcers, skin lesions, arthritis, and uveitis. Patients with BD may develop rare but serious neural, intestinal, and vascular complications, with high relapse rates. Meanwhile, RP is characterized by the inflammation of the cartilaginous tissues of the ears, nose, peripheral joints, and tracheobronchial tree...

Relapsing polychondritis is an uncommon disorder of unknown cause characterized by inflammation of cartilage, predominantly affecting the ear, nose, and laryngotracheobronchial tree. The case under discussion is a 50-year-old female with a classical presentation of relapsing polychondritis with saddle nose deformity, bilateral auriculitis, and laryngotracheobronchomalacia with joint involvement.

Relapsing polychondritis (RP) is a rare autoimmune disease that can present with various clinical manifestations. Among the affected sites, the ear, nose, and throat cartilages are frequently involved, often leading to subtle and episodic symptoms that can be challenging to diagnose. A high index of suspicion is necessary for the early identification of these subtle signs, which can aid in early diagnosis and prompt management. In this report, we present a rare case of pediatric-onset relapsing polychondritis that was initially misdiagnosed as laryngotracheobronchitis...

A 52-year-old male patient presented with longstanding non-specific symptoms of ocular redness and irritation. Clinical examination not only revealed bilateral anterior scleritis but also bilateral optic disc swelling. Additional history taking revealed headaches and tinnitus, both starting around the same time as the eye redness, as well as a prior episode of swelling and redness of both ears. The lumbar puncture opening pressure was 29 cm of cerebrospinal fluid (CSF). There were 11 white blood cells/µl in the CSF...

No abstract text is available yet for this article.

Palmoplantar pustulosis (PPP) is a very rare cutaneous manifestation observed during relapsing polychondritis (RP),1,2 not found in other conditions associated with saddle nose (eg, granulomatosis with polyangiitis, sarcoidosis, VEXAS [vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic] syndrome, congenital syphilis, leprosy, septal abscess).

Relapsing polychondritis (RP) is a rare autoimmune disease characterized by inflammation of the cartilage structures of the body with typical features of auricular chondritis, nasal and ocular inflammation, audio-vestibular damage, as well as respiratory tract manifestations. It is associated with several autoimmune diseases and many other disorders. Tumor necrosis factor alpha (TNFα) inhibitors treat many chronic inflammatory disorders. They have proven effective and relatively safe in many clinical trials and observational studies...

RELAPSING POLYCHONDRITIS. Relapsing polychondritis (RP) is a systemic disease which diagnosis relies on the existence of typical chondritis present at the beginning of the disease only in 1/3 of cases. Three phenotypes of RP have been described, each one characterized by specific manifestations and the need of a specific therapeutic management and follow-up. Screening for tracheo-bronchial manifestations must be systematic if RP is suspected, as it is responsible for most of the morbi-mortality of the disease...

OBJECTIVE: Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown etiology. The study objective was to examine the contribution of rare genetic variations in RP. METHODS: We performed a case-control exome-wide rare variant association analysis including 66 unrelated European American RP cases and 2923 healthy controls. Gene-level collapsing analysis was performed using Firth's logistics regression. Pathway analysis was performed on an exploratory basis with three different methods: Gene Set Enrichment Analysis (GSEA), sequence kernel association test (SKAT) and higher criticism test...

INTRODUCTION: Relapsing polychondritis is a rare, immune-mediated disease characterised by inflammation of cartilaginous structures. Auricular chondritis, sparing the fatty lobule, is the most typical feature, followed by nose and laryngotracheal involvement. Albeit rare, neurologic involvement is reported with relapsing polychondritis. Cranial nerve involvement is the most frequent neurologic manifestation and is probably due to an underlying vasculitic process. Approximately one-third of relapsing polychondritis patients can overlap with other systemic diseases, including other autoimmune connective tissue diseases, but association with systemic sclerosis has very rarely been described...

We present a 54-year-old woman with 3-month history of skin rash and bilateral hearing loss. Multiple investigations including biopsy failed to reveal the underlying diagnosis of relapsing polychondritis, until 18F-FDG PET/CT demonstrated a characteristic FDG activity pattern-the oto-rhino-tracheobronchial triad. The patient was subsequently diagnosed to have relapsing polychondritis and received treatment. The second FDG PET/CT revealed a differential response in different disease sites, which prompted an escalation of treatment...