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.

Herbert screw internal fixation for treating adult osteochondritis dissecans of the knees / 中国组织工程研究

BACKGROUND: Osteochondritis dissecans of the knee in adults may lead to local instability of articular cartilage and subchondral bone. If it is not treated in time, it will have a secondary impact on articular cartilage, and the probability of osteoarthritis of knee joint is significantly increased. At present, there is no clear treatment plan. OBJECTIVE: To investigate the clinical effect of knee arthroscopy combined with Herbert bidirectional compression screw internal fixation for osteochondritis dissecans of the knee. METHODS: Adult patients who met the diagnostic criteria of osteochondritis dissecans of the knee from June 2014 to September 2018 were retrospectively analyzed, and those with other knee joint diseases were excluded. There were 43 patients treated, including 25 males and 18 females. All patients were treated with knee arthroscopy combined with Herbert two-way compression screw internal fixation. All patients were adults, aged 18-53 years, with an average age of (29.00±4.62) years. All patients had unilateral knee joint disease, including 19 cases of the left limb and 24 cases of the right limb. Before treatment and at final follow-up, knee motion range was compared. Visual analogue scale score was used to evaluate knee pain. Knee Lysholm score was used to evaluate knee function. RESULTS AND CONCLUSION: (1) Of the 43 patients, 35 completed the follow-up time of more than 1 year, and the follow-up time was 12-20 months, with an average of (14.0±2.5) months. None of the patients had related complications. (2) Knee joint pain and function improved significantly in all patients after surgery. The mean knee motion range before operation was (109.57±12.45)°, and (126.39±13.73)° at the final follow-up (t=-56.72, P <0.001). Visual analogue scale score was (5.53±1.47) before surgery and (0.79±1.35) (t=-137.51, P < 0.001) after surgery. Mean Lysholm score was (58.27±10.51) before surgery, and (89.36±5.43) postoperatively (t=-163.65, P < 0.001). (3) Knee arthroscopy combined with Herbert’s two-way compression screw internal fixation for adult osteochondritis dissecans of knee has reliable fixation and small surgical trauma, which can significantly improve knee function, and the clinical effect is satisfactory.

Policondritis recidivante / Relapsing polychondritis

La policondritis recidivante, es una infrecuente enfermedad inflamatoria del tejido conjuntivo, de etiología desconocida. Se caracteriza por inflamación episódica y progresiva de tejido cartilaginoso, principalmente del pabellón auricular, nariz y árbol traqueo-bronquial. Se presenta el caso de una paciente femenina de 58 años, que consulta por enrojecimiento y dolor en pabellón auricular derecho, con episodios previos similares en ambos oídos y nariz, además de estudio por poliartritis simétrica. Al examen físico destaca: eritema, edema y dolor local en pabellón auricular, respetando lóbulo. Con exámenes complementarios normales y presencia de tres criterios característicos de McAdam, se diagnostica policondritis recividante, iniciando prednisona oral, con respuesta favorable. Pese a ser una enfermedad poco frecuente, es importante considerarla en casos recurrentes de eritema y dolor local en regiones cartilaginosas, principalmente en pabellón auricular y nariz, de tal forma de lograr un diagnóstico precoz, para suprimir las crisis y mejorar el pronóstico de estos pacientes.

Relapsing Polychondritis (RP) is a rare inflammatory connective tissue disease of unknown etiology. It is characterized by episodic and progressive inflammation of cartilage tissue, especially ear, nose and tracheobronchial tree. We report the case of 58 year old Chilean female patient, who consulted for redness and pain in the right ear, with similar previous episodes in both ears and nose; along with symmetric polyarthritis study it is presented. Physical examination highlighted erythema, edema and local pain in ear, respecting lobe. With normal complementary examinations and presence of three diagnostic criteria of McAdam y col. relapsing polychondritis diagnosed, initiating oral prednisone, with favorable response. Despite being a rare disease, it is important to consider in recurrent cases of erythema and local pain in cartilaginous regions, mainly in ear and nose, so to achieve early diagnosis, to suppress the crisis and improve the prognosis of these patients.

Relapsing Polychondritis: A Case Report.

Relapsing polychondritis is a chronic, recurrent, episodic, inflammatory disease of unknown cause affecting predominantly the cartilaginous tissues of the body. Episodes last few days to weeks. All types of cartilages may be involved. The most common presentation is the involvement of pinnae cartilages. The term was coined by Pearson and was first described by Jacksch-Wartenhorst in 1923, who called it polychondropathies. Annual incidence is about 3.5/million with the peak age at onset ranging from 40 to 50 years. Autoimmune etiology is suspected. Diagnosis is based on McAdam et al., criterion. Corticosteroid remains the mainstay of treatment along with the anti-inflammatory drugs. Here we present a case of 18-year-old male who presented with the involvement of the laryngeal cartilages, which is a rare presentation and later there was an involvement of other cartilages too. Our patient had four of McAdams criteria and also responded to steroids.

Nasal Deformity Due to Tuberculous Chondritis

Tuberculosis (TB) is a common disease worldwide. However, nasal TB is quite rare, and the diagnosis of nasal TB requires a high index of suspicion. The most common symptoms of this unusual presentation are nasal obstruction and nasal discharge. We present a case of nasal TB with involvement of the hard palate presenting with a chronically progressive nasal deformity and ulceration of the hard palate. A biopsy confirmed the diagnosis, and medication for TB was started and the lesions resolved. When a patient presents with chronic ulcerative lesions that do not respond to antibiotic treatment, TB should be included in the differential diagnosis. Biopsy of the lesion can aid in the confirmation of the diagnosis.

Policondrite recidivante / Relapsing polychondritis

JUSTIFICATIVA E OBJETIVOS: A policondrite recidivante (PR) é uma doença multissistêmica, caracterizada por inflamação e destruição das cartilagens auriculares, nasais, laringotraqueais e articulares. Ocasionalmente, há o acometimento de outros tecidos. Com poucos relatos na literatura mundial, a PR é uma doença rara, com maior frequência na quarta década de vida. Sua etiologia permanece desconhecida, no entanto, fortes evidências sugerem patogênese autoimune. A PR pode ter curso grave ao comprometer o trato respiratório e levar à sua obstrução, ocasionando o óbito. O objetivo deste estudo foi rever os diversos aspectos clínicos da PR, como sua patogênese, quadro clínico, diagnóstico e tratamento, visando a ampliação do diagnóstico diferencial na clínica médica. CONTEÚDO: Através dos bancos de dados LILACS, Medline/Pubmed e Scielo foram selecionados 61 artigos, sendo estes de pesquisa, revisão de literatura e relato de caso. Utilizaram-se os descritores: policondrite recidivante, policondrite recorrente. O período considerado englobou 87 anos (1923-2010). CONCLUSÃO: A PR é uma doença pouco prevalente com dados restritos na literatura mundial, mas de potencial gravidade. Seus achados clínicos são sugestivos e incluem condrite auricular, nasal e poliartrite. O tratamento estipulado é empírico, e utiliza-se de anti-inflamatórios não esteroides (AINES), glicocorticóides, imunossupressores e em casos refratários, os agentes anti-TNF-α. Devido à possibilidade de evolução grave, a PR deve ter sua suspeita clínica sempre considerada em qualquer faixa etária acometida, visando um diagnóstico precoce e tratamento adequado de acordo com a atividade da doença.

BACKGROUND AND OBJECTIVES: Relapsing polychondritis (RP) is a multisystemic disease characterized by inflammation and destruction of auricular, nasal, laryngotracheal and junction cartilages. Ocasionally, other tissues are affected. With few reports in the world literature, RP is a rare disease, being more prevalent in the fourth decade of life. Its etiology remains unknown. However, strong evidences suggest an autoimmune pathogenesis. The RP may show a severe evolution when the respiratory tract is affected, and could lead to obstruction, causing patient's death. The objective of this study was to perform a literature review about the general clinical aspects of RP, such as its pathogenesis,clinical presentation, diagnosis and treatment, aiming at expanding the differential diagnosis in clinical medicine.CONTENTS: Through the LILACS, Medline/Pubmed and Scielo databases, 61 articles were selected. Among them, there where research articles, literature review and case reports. We used the following keywords: relapsing polychondritis, recurrent polychondritis. The considered period encompassed 87 years (1923-2010). CONCLUSION: RP is a barely prevalent disease, with restricted data in the world literature, but potentially severe. The clinical findings are suggestive of RP, including auricular and nasal chondritis, and polyarthritis. The prescribed treatment is empirical,with drugs such as non-steroid anti-inflammatories (NSAIDs), glucocorticoids, immunosuppressants and, in refractory cases,the anti-TNF-α agents. Due to the possibility of severe outcome of the RP, its clinical suspicion must be always considered in any age group, thus aiming at an early diagnosis and appropriate treatment according to the disease activity.

Policondrite recidivante na infância: relato de caso e revisão da literatura / Relapsing polychandritis in the childhood: case report and literature review

A policondrite recidivante é uma doença rara caracterizada por episódios recorrentes de inflamação das cartilagens articular, auricular, nasal e laringotraqueal de intensidade variável. O diagnóstico diferencial inclui as doenças difusas do tecido conjuntivo, as vasculites e as síndromes febris periódicas na infância. Relatamos o caso de um adolescente de 11 anos com artrite de joelhos, conjuntivite aguda, acometimento de orelha, nariz e vias aéreas superiores cuja doença foi controlada com o uso de corticosteróides e imunossupressores. Os achados clínicos e laboratoriais são discutidos e comparados com os dados da literatura.

Relapsing polychondritis is a rare disease characterized by recurrent episodes of inflammation of the articular, auricular, nasal and laryngotracheal cartilages of variable intensity. Differential diagnosis includes connective tissue diseases, vasculitis and periodic febrile syndromes of childhood. We report a case of 11 year-old boy with knee arthritis, acute conjunctivitis, ear, nose and upper airway cartilage involvement whose disease was controlled with the use of corticosteroids and immunosuppressive drugs. The clinical and laboratory findings were discussed and compared with case reports from literature.

Clinical Study of Chondritis in the Burned Ear / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The chondritis of the auricle is a relatively common and severe complication of ear burns and frequently leads to the destruction of unburned cartilage, thus destroying the shape of the ear. The purpose of this study is to document the clinical nature of the injury, the results of various methods of treatment and to recommend the management protocol for chondritis of the burned ear. MATERIALS AND METHODS: A retrospective study of 69 patients who suffered the chondritis of the burned ear were carried out. These patients had been admitted to the Burn center at the Hangang Sacred Heart Hospital, Hallym University from January, 1993 through December, 1998. RESULTS: 1) The most common causative agent was flame burns (91.3%). 2) A mean interval of onset was 29.36 days. 3) Pseudomonas aeruginosa was noted on 68.5% of the cultures taken. 4) The sensitivity studics showed that Cefoperazone is the most sensitive antibiotics to P. aeruginosa. 5) The methods of treatment were dressing with cerettage (36%), incision and drainage with antibiotics soaking (22%), chondrectomy (35%), and chondrectomy with through and through drain (7%). 6) The final results of treatment were affected by the initial degree of burn. CONCLUSION: The most important preventive measures were strict avoidance of pressure on the injured ear and effective topical chemotherapy to control microbial proliferation. Early detection and early surgical intervention of chondritis were essential to limit progression of infection and necrosis, and to minimize the deformity of the auricle.

A Case of Relapsing Polychondritis / 대한이비인후과학회지

Relapsing polychondritis is a rare disorder that involves a multisystem characterized by recurrent inflammation, degeneration of cartilage and connective tissue. The following tissues, in the order of decreasing frequency, may be involved: auricules, joint, nose, eyes, respiratory tract, heart valve and skin. The cause is unknown but an autoimmune mechanism has been thought to be the causative factor. Authors have recently experienced a case of relapsing polychondritis in a 71 year old man diagnosed by direct immunofluoroscene and auricular chondritis.