Pediatric-Onset Relapsing Polychondritis: Case Series and Systematic Review

doi:10.1016/j.jpeds.2009.09.045

The Journal of Pediatrics

Volume 156, Issue 3, March 2010, Pages 484-489

https://doi.org/10.1016/j.jpeds.2009.09.045 Get rights and content

Objectives

To study the pediatric presentation and evolution of relapsing polychondritis (RP), a rare inflammatory disease characterized by recurrent inflammation of cartilage.

Study design

We retrospectively collected data from 10 patients observed in 3 French hospitals for relapsing polychondritis, with an age at onset <18 years. We also analyzed 37 cases of pediatric-onset RP from a systematic review.

Results

The mean age at first symptoms was 8.6 years, and the sex ratio was 6 male patients and 4 female patients. Children came to medical attention with joint pain, ocular inflammation, and chondritis. Outcomes included severe visual impairment, chronic destructive chondritis, and 1 death caused by aortic dilatation. Treatment mainly consisted of non-steroidal-anti-inflammatory drugs, corticosteroids, and immunosuppressants. Growth was normal in 7 examined patients. Systematic literature review also suggested a high number of tracheostomy in pediatric cases, but this was not confirmed in our series.

Conclusion

RP in childhood shares the main clinical features of its adult counterpart, including destructive chondritis and systemic symptoms, but unlike adults, children frequently have a family history of autoimmunity and infrequently have other associated autoimmune diseases. RP can be fatal; close screening for complications is mandatory. Growth does not appear to be impaired by cartilage inflammation.

Section snippets

Methods

We retrospectively investigated the databases of 3 French hospitals (Hôpital de la Pitié Salpetrière, Paris; Hôpital Saint Vincent de Paul, Paris; Hôpital Femme Mère Enfant, Lyon) to find cases of pediatric-onset RP diagnosed from 1961 to 2007. In all patients, we used the diagnostic criteria of Michet et al.³ To be included, a patient must have proven inflammatory episodes involving at least 2 of 3 sites—auricular, nasal, or laryngotracheal cartilage—or 1 of these sites and 2 other

Current French Pediatric Series

Ten patients were included, with the first episode of chondritis between 2 and 17 years of age. The characteristics of the patients are reported in Table I.

Familial autoimmunity was represented by inflammatory arthritis, type 1 diabetes mellitus, Hashimoto thyroiditis, and RP. Patient 9 and patient 10 are relatives (brother and sister).

The mean duration of follow-up was 14.4 years (SD, 13.4 years). Initial symptoms included chondritis (mainly auricular), arthritis, and conjunctivitis, and the

Discussion

RP is a rare disease that mainly affects adults during the fourth or fifth decade. We estimate that pediatric-onset RP represents <5% of the reported cases. Most pediatric-onset RP has been published as single case reports, and no published pediatric series previously has been available.

In our series, the age at onset varied from 1.7 months to 17 years, and young children and adolescent can be affected; no case has previously been reported before the age of 2 years.26, 35, 36 In the 1970s, a

References (50)

M.J. Navarro et al.
Amelioration of relapsing polychondritis in a child treated with oral collagen
Am J Med Sci
(2002)
J.J. Nicotra et al.
Three-dimensional imaging of the pediatric airway
Int J Pediatr Otorhinolaryngol
(1997)
J. Borbujo et al.
Relapsing polychondritis associated with psoriasis vulgaris
J Am Acad Dermatol
(1989)
G.S. Firestein et al.
Mouth and genital ulcers with inflamed cartilage: MAGIC syndrome. Five patients with features of relapsing polychondritis and Behcet's disease
Am J Med
(1985)
C.R. Arkin et al.
Relapsing polychondritis: review of current status and case report
Semin Arthritis Rheum
(1975)
R. Valenzuela et al.
Relapsing polychondritis. Immunomicroscopic findings in cartilage of ear biopsy specimens
Hum Pathol
(1980)
L.P. McAdam et al.
Relapsing polychondritis: prospective study of 23 patients and a review of the literature
Medicine (Baltimore)
(1976)
D.E. Trentham et al.
Relapsing polychondritis
Ann Intern Med
(1998)
C.J. Michet et al.
Relapsing polychondritis. Survival and predictive role of early disease manifestations
Ann Intern Med
(1986)
J.M. Tanner et al.
Standards for children's height at ages 2-9 years allowing for heights of parents
Arch Dis Child
(1970)

J.M. Damiani et al.

Relapsing polychondritis—report of ten cases

Laryngoscope

(1979)

B. Terrier et al.

Complete remission in refractory relapsing polychondritis with intravenous immunoglobulins

Clin Exp Rheumatol

(2008)

D. Bell et al.

Durability of nasal reconstruction in an adolescent with relapsing polychondritis treated with infliximab

Plast Reconstr Surg

(2007)

M.F. Andre et al.

Aseptic abscesses: a study of 30 patients with or without inflammatory bowel disease and review of the literature

Medicine (Baltimore)

(2007)

A.P. Rozin et al.

Alopecia areata and relapsing polychondritis or mosaic autoimmunity? The first experience of co-trimoxazole treatment

Ann Rheum Dis

(2003)

C.M. Kim et al.

Laryngotracheal involvement of relapsing polychondritis in a Korean girl

Pediatr Pulmonol

(2003)

I. Soto-Romero et al.

Relapsing polychondritis: a pediatric case

Pediatr Dermatol

(2002)

P. Luckey et al.

Diagnostic role of inspiration and expiration CT in a child with relapsing polychondritis

AJR Am J Roentgenol

(2001)

F.A. Fadl et al.

Ear, nose and throat manifestations of relapsing polychondritis in a child

Saudi Med J

(2001)

S. Knipp et al.

Relapsing polychondritis in childhood—case report and short review

Rheumatol Int

(2000)

C. Okuyama et al.

Increased subglottic gallium uptake in relapsing polychondritis

J Nucl Med

(1998)

O. Sacco et al.

Severe endobronchial obstruction in a girl with relapsing polychondritis: treatment with Nd YAG laser and endobronchial silicon stent

Eur Respir J

(1997)

S. Podder et al.

Cogan's syndrome: a rare systemic vasculitis

Arch Dis Child

(1994)

S. Varonos et al.

Polychondritis associated with Schonlein-Henoch purpura: report of a case

Clin Exp Rheumatol

(1994)

L.J. Clark et al.

Relapsing polychondritis—two cases with tracheal stenosis and inner ear involvement

J Laryngol Otol

(1992)

Cited by (44)

Tracheobronchial involvement of relapsing polychondritis
2019, Autoimmunity Reviews
Recent studies show that relapsing polychondritis patients with tracheobronchial involvement are distinct from others in terms of clinical characteristics, therapeutic management, and disease evolution. Tracheobronchial involvement affects 20 to 50% of patients and may reveal the disease. It should be sought at the time of diagnosis and at each follow-up visit. Respiratory impairment is confirmed by computed tomography (CT) of the chest, including the cervical portion of the trachea, with end-inspiratory and dynamic expiratory scans, and pulmonary function tests. These investigations should be performed, even in asymptomatic patients, at the time of diagnosis, and repeated as necessary during follow-up. Bronchoscopy and a fortiori endoscopic intervention should be considered with caution and performed only by expert endoscopists after careful evaluation of the risks and benefits of such procedures, which can lead to damage or perforation of the airways and bronchospasm. Early detection and management of tracheobronchial involvement in relapsing polychondritis has significantly improved the prognosis of patients, especially with the development of interventional fiberoptic bronchoscopy. However, relapsing polychondritis-related morbidity and mortality are still elevated, particularly in tracheobronchial disease.
Relapsing polychondritis: What's new in 2017?
2018, Revue de Medecine Interne
La polychondrite atrophiante (PCA) est une maladie rare caractérisée par la survenue d’épisodes répétés d’inflammation de certaines structures cartilagineuses associés à des manifestations systémiques variées. Les données sur la physiopathologie, peu nombreuses, suggèrent un mécanisme auto-immun. L’existence de plusieurs phénotypes cliniques a été récemment rapportée : la forme hématologique associée à une myélodysplasie touchant moins de 10 % des malades, principalement des hommes âgés avec un mauvais pronostic, la forme respiratoire touchant environ 25 % des malades avec une atteinte trachéobronchique prédominante et des complications propres, et la forme bénigne, la plus fréquente, touchant 65 % des malades, de bon pronostic. La littérature montre une amélioration du pronostic comparativement aux séries historiques. Les facteurs de mauvais pronostic rapportés sont principalement le sexe masculin, la présence d’une hémopathie associée et l’atteinte cardiaque. Quelques séries rétrospectives récentes suggèrent un intérêt de la tomographie par émission de positons pour le diagnostic, voire le suivi thérapeutique. Le traitement repose généralement sur la corticothérapie continue parfois associée aux immunosuppresseurs de façon empirique car il n’existe aucun essai thérapeutique randomisé dans la PCA. L’utilisation des biothérapies a récemment été rapportée sous la forme de cas cliniques et de courtes séries avec des résultats variables. Enfin, certaines formes mineures peuvent justifier d’un traitement par colchicine, voire d’une abstention thérapeutique, avec brève corticothérapie en cas de chondrite périphérique occasionnelle.
Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilaginous tissue and systemic manifestations. Data on pathophysiology are scarce and suggest an autoimmune mechanism. Recently, the possibility of dividing patients with RP into three distinct clinical phenotypes has been suggested: the hematological form representing less than 10% of patients, essentially older men with associated myelodysplasia and poor prognosis, the respiratory form representing about 25% of patients with predominant tracheobronchial involvement, and the mild and most frequent form, representing 65% of patients, with a good prognosis. Recent data on survival shows an improvement of overall prognosis compared to historical series. Reported poor prognosis factors are male gender, associated haemopathies and cardiac involvement. Few recent series suggest an interest for positron emission tomography for the diagnosis and the follow-up of treatment. Due to the lack of randomized therapeutic trial, treatment remains empirical and is mainly based on oral corticosteroids sometimes associated with immunosuppressive agents. The use of biologic agents has recently been reported in small retrospective series with different outcome. Finally, some selected patients with mild and occasional peripheral chondritis might justify a treatment with colchicine or a therapeutic abstention with occasional short-term corticosteroids therapy.
Relapsing polychondritis: A clinical update
2016, Autoimmunity Reviews
Citation Excerpt :
In fact, anti-cartilage antibodies are detected in at least 33% of RP patients, and their titers appear to correlate with disease severity. [15,16] It is considered an immune-mediated disease, as there is an overlap between well documented RP and other rheumatic and autoimmune diseases [3–5,7–10,17–19]. Although a large number of cases have been reported recently, and the knowledge of the clinical features, pathogenesis, and management of the RP has increased considerably, the literature data available are very limited [5,20].
Relapsing polychondritis (RP) is a rare connective tissue disease in which recurrent bouts of inflammation, involve the cartilage of the ears, nose, larynx, tracheobronchial tree and cardiovascular system. RP is generally observed in the fourth and fifth decades of life and occurs with equal frequency in both sexes. The cause of RP is still unknown. It is considered an immune-mediated disease, as there is an overlap between well documented RP with other rheumatic and autoimmune diseases. There is a significant association of RP with the antigen HLA-DR4. RP includes loss of basophilic staining of cartilage matrix perichondral accompanied by inflammation of the cartilage. Cells are present perivascular mononuclear and polymorphonuclear cells infiltrated. The chondrocytes become vacuolated and necrotic and are replaced by fibrous tissue.
Common symptoms are often absent in the early stages of the disease in almost half the cases, resulting in delay in diagnosis. The development of chondrite allows the diagnosis of RP in patients initially evaluated for joint abnormalities, ocular, cutaneous, or audio-vestibular.
Diagnostic criteria for RP are based on characteristic clinical manifestations. According to Damiani and Levine, the diagnosis can be considered final when one or more of the clinical features are present in conjunction with biopsy confirmation. The course of symptoms for patients with relapsing polychondritis is often unpredictable.
Patients with mild signs of acute inflammation are usually treated with non-steroidal anti-inflammatory drugs and small doses of prednisone. Patients with severe manifestations, such as airway compromise may require high doses of prednisone or even intravenous pulse methyl-prednisone.
Relapsing polychondritis: A 2016 update on clinical features, diagnostic tools, treatment and biological drug use
2016, Best Practice and Research: Clinical Rheumatology
Citation Excerpt :
Paediatric cases do not have specific features except a high prevalence of a personal or family history of other autoimmune diseases. The cartilaginous involvement does not delay growth [27]. The disease affects men and women equally [23,26], although some series show a slight female predominance [15,28].
Relapsing polychondritis (RP) is a very rare autoimmune disease characterised by a relapsing inflammation of the cartilaginous tissues (joints, ears, nose, intervertebral discs, larynx, trachea and cartilaginous bronchi), which may progress to long-lasting atrophy and/or deformity of the cartilages. Non-cartilaginous tissues may also be affected, such as the eyes, heart, aorta, inner ear and skin. RP has a long and unpredictable course. Because no randomised therapeutic trials are available, the treatment of RP remains mainly empirical. Minor forms of the disease can be treated with non-steroidal anti-inflammatory drugs, whereas more severe forms are treated with systemic corticosteroids. Life-threatening diseases and corticosteroid-dependent or resistant diseases are an indication for immunosuppressant therapy such as methotrexate, azathioprine, mycophenolate mofetil and cyclophosphamide. Biologics could be given as second-line treatment in patients with an active disease despite the use of steroids and immunosuppressive drugs. Although the biologics represent new potential treatment for RP, very scarce information is available to draw any firm conclusion on their use in RP.
Relapsing polychondritis
2015, Rheumatology: Sixth Edition
Chronic atrophying polychondritis
2014, Revue du Rhumatisme (Edition Francaise)
La polychondrite chronique atrophiante (PCA) est une affection rare caractérisée par une inflammation récidivante parfois suivie de dégénérescence des cartilages de l’oreille, du nez, du larynx et de l’arbre trachéobronchique. Les manifestations révélatrices sont le plus souvent articulaires et les chondrites sont absentes initialement dans la moitié des cas. Leur survenue secondairement permet alors de rectifier le diagnostic d’une polyarthrite, d’une inflammation oculaire, ou d’une atteinte cutanée ou audiovestibulaire non étiquetée. Une pathologie auto-immune associée est présente chez un tiers des patients. La PCA résulte d’une réaction auto-immune contre certains antigènes du cartilage encore inconnus, suivie d’une protéolyse enzymatique de la matrice cartilagineuse. Le diagnostic est clinique. Il peut être aidé par les critères de Michet. Les anticorps anti-collagène de type II et anti-matriline-1 ne sont ni sensibles ni spécifiques et ne peuvent pas être utilisés à visée diagnostique. L’évaluation clinique et biologique est complétée par les données comparatives du scanner thoracique dynamique expiratoire, de l’IRM, de l’échographie Doppler cardiaque, des épreuves fonctionnelles respiratoires et pour certains de l’endoscopie bronchique mais qui comporte le risque d’aggraver l’état respiratoire. Le traitement de la PCA n’est pas codifié. Il est adapté, en fonction de l’activité et de la sévérité de la maladie, de façon individuelle. La corticothérapie reste la base du traitement que la plupart des patients prennent au long cours. Les immunosuppresseurs sont utilisés dans les formes respiratoires ou vasculaires sévères ou en cas de corticorésistance ou corticodépendance. Le méthotrexate est souvent efficace. Le cyclophosphamide est utilisé dans les formes sévères.

View all citing articles on Scopus

: The authors declare no conflicts of interest.

View full text

Original ArticlePediatric-Onset Relapsing Polychondritis: Case Series and Systematic Review

Objectives

Study design

Results

Conclusion

Section snippets

Methods

Current French Pediatric Series

Discussion

Am J Med Sci

Int J Pediatr Otorhinolaryngol

J Am Acad Dermatol

Am J Med

Semin Arthritis Rheum

Hum Pathol

Relapsing polychondritis: prospective study of 23 patients and a review of the literature

Medicine (Baltimore)

Relapsing polychondritis

Ann Intern Med

Relapsing polychondritis. Survival and predictive role of early disease manifestations

Ann Intern Med

Standards for children's height at ages 2-9 years allowing for heights of parents

Arch Dis Child

Relapsing polychondritis—report of ten cases

Laryngoscope

Complete remission in refractory relapsing polychondritis with intravenous immunoglobulins

Clin Exp Rheumatol

Durability of nasal reconstruction in an adolescent with relapsing polychondritis treated with infliximab

Plast Reconstr Surg

Aseptic abscesses: a study of 30 patients with or without inflammatory bowel disease and review of the literature

Medicine (Baltimore)

Alopecia areata and relapsing polychondritis or mosaic autoimmunity? The first experience of co-trimoxazole treatment

Ann Rheum Dis

Laryngotracheal involvement of relapsing polychondritis in a Korean girl

Pediatr Pulmonol

Relapsing polychondritis: a pediatric case

Pediatr Dermatol

Diagnostic role of inspiration and expiration CT in a child with relapsing polychondritis

AJR Am J Roentgenol

Ear, nose and throat manifestations of relapsing polychondritis in a child

Saudi Med J

Relapsing polychondritis in childhood—case report and short review

Rheumatol Int

Increased subglottic gallium uptake in relapsing polychondritis

J Nucl Med

Severe endobronchial obstruction in a girl with relapsing polychondritis: treatment with Nd YAG laser and endobronchial silicon stent

Eur Respir J

Cogan's syndrome: a rare systemic vasculitis

Arch Dis Child

Polychondritis associated with Schonlein-Henoch purpura: report of a case

Clin Exp Rheumatol

Relapsing polychondritis—two cases with tracheal stenosis and inner ear involvement

J Laryngol Otol

Original Article
Pediatric-Onset Relapsing Polychondritis: Case Series and Systematic Review