Anti-Ku antibody-positive systemic sclerosis and idiopathic inflammatory myopathies overlap syndrome in children: a report of two cases and a review of the literature.
Anti-Ku antibody
Children
Idiopathic inflammatory myopathies
Systemic sclerosis
Journal
Clinical rheumatology
ISSN: 1434-9949
Titre abrégé: Clin Rheumatol
Pays: Germany
ID NLM: 8211469
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
11
04
2023
accepted:
27
06
2023
revised:
23
06
2023
medline:
13
11
2023
pubmed:
2
7
2023
entrez:
2
7
2023
Statut:
ppublish
Résumé
The occurrence of anti-Ku antibody-positive idiopathic inflammatory myopathy (IIM) in pediatric patients is rare, and therefore, the clinical phenotypes of this disease in such patients remain obscure. We herein report two cases of Japanese female pediatric patients with anti-Ku antibody-positive IIM. One case was unique in that it was complicated by pericardial effusion. Another patient had severe and refractory myositis with immune-mediated necrotizing myopathy. In addition, we reviewed literatures involving a total of 11 pediatric patients with anti-Ku antibody-positive IIM. The median age of the patients was 11 years, and most of them were girls. Skin rash, including erythematous nodules, malar rash, multiple brownish plaques, butterfly rash, heliotrope rash, periorbital edema, and Gottron's papules, was observed in 54.5% of the patients, scleroderma in 81.8%, and skin ulcer in 18.2%. Their serum creatine kinase level ranged from 504 to 10,840 IU/L. Furthermore, joint involvement was observed in 91% of the patients, interstitial lung disease in 18.2%, and esophageal involvement in 9.1%. All patients were treated with corticosteroids in combination with immunosuppressants. Pediatric patients with anti-Ku antibody-positive IIM had unique characteristics compared to adult patients. Skin manifestations, joint involvement and elevation of serum CK levels were more common in children than in adults. In contrast, ILD and esophageal involvement were less common in children than in adults. Although pediatric cases of anti-Ku antibody-positive IIM are rare, patients with IIM need to be tested for the presence of anti-Ku antibodies.
Identifiants
pubmed: 37393558
doi: 10.1007/s10067-023-06687-5
pii: 10.1007/s10067-023-06687-5
doi:
Substances chimiques
Autoantibodies
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
3411-3417Informations de copyright
© 2023. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).
Références
Lieber MR, Ma Y, Pannicke U, Schwarz K (2004) The mechanism of vertebrate nonhomologous DNA end joining and its role in V(D)J recombination. DNA Repair 3:817–826
doi: 10.1016/j.dnarep.2004.03.015
pubmed: 15279766
Schild-Poulter C, Haché RJG, Soubeyrand S (2004) Ku antigen: a versatile DNA binding protein with multiple cellular functions. In: Parisi V, De Fonzo V, Aluffi-Pentini F (eds) Recent research developments in dynamical genetics, Research Signpost, Transworld Research Network, p 257–284
Mimori T, Akizuki M, Yamagata H, Inada S, Yoshida S, Homma M (1981) Characterization of a high molecular weight acidic nuclear protein recognized by autoantibodies in sera from patients with polymyositis-scleroderma overlap. J Clin Invest 68:611–620
doi: 10.1172/JCI110295
pubmed: 7276162
pmcid: 370841
Betteridge Z, McHugh N (2016) Myositis-specific autoantibodies: an important tool to support diagnosis of myositis. J Intern Med 280:8–23
doi: 10.1111/joim.12451
pubmed: 26602539
Birdi N, Laxer RM, Thorner P, Fritzler MJ, Silverman ED (1993) Localized scleroderma progressing to systemic disease. case report and review of the literature. Arthritis Rheum 36:410–415
doi: 10.1002/art.1780360318
pubmed: 8452586
Nitta Y, Muramatsu M (2000) A juvenile case of overlap syndrome of systemic lupus erythematosus and polymyositis, later accompanied by systemic sclerosis with the development of anti-Scl 70 and anti-Ku antibodies. Pediatr Dermatol 17:381–383
doi: 10.1046/j.1525-1470.2000.017005381.x
Azanmene B, Badot V, Verlinden S et al (2012) Isolated anti-Ku antibody in scleroderma-myositis overlap syndrome: the histo-pathological patern. J Transl Med 10(Suppl 3):P57
doi: 10.1186/1479-5876-10-S3-P57
pmcid: 3508975
Kishi T, Miyamae T, Morimoto R et al (2015) Childhood-onset Anti-Ku antibody-positive generalized morphea with polymyositis: a Japanese case study. Pediatr Dermatol 32:e224–e225
doi: 10.1111/pde.12644
pubmed: 26205636
Kaur N, Wong M (2016) CGRA10: a rare case of anti-Ku antibodies positive systemic lupus erythematosus and juvenile dermatomyositis overlap in a paediatric patient. Intern Med J 46:32
doi: 10.1111/imj.10_13198
Khaosut P, Castagno S, Aluko A, Al-Obaidi M (2017) Anti-KU antibodies in two paediatric cases with juvenile dermatomyositis-scleroderma overlap: why is it important to know? Rheumatology 56:24
doi: 10.1093/rheumatology/kex356.008
Loo RJ, Nocton JJ, Harmelink MM, Chiu YE (2020) Anti-Ku antibody-positive systemic sclerosis-polymyositis overlap syndrome in an adolescent. Pediatr Dermatol 37:960–961
doi: 10.1111/pde.14243
pubmed: 32519400
Cotter C, Rudd E, Williamson E, Philippidou M, Tewari A (2022) Anti-Ku-positive juvenile dermatomyositis. Clin Exp Dermatol 47:425–427
doi: 10.1111/ced.14937
pubmed: 34528293
Wu W, Guo L, Fu Y, Wang K, Zhang D, Xu W, Chen Z, Ye S (2021) Interstitial lung disease in Anti-MDA5 positive dermatomyositis. Clin Rev Allergy Immunol 60:293–304
doi: 10.1007/s12016-020-08822-5
pubmed: 33405101
Casal-Dominguez M, Pinal-Fernandez I, Derfoul A, Graf R, Michelle H, Albayda J, Tiniakou E, Adler B, Danoff SK, Lloyd TE, Christoper-Stine L, Paik JJ, Mammen AL (2021) The phenotype of myositis patients with anti-Ku autoantibodies. Semin Arthritis Rheum 51:728–734
doi: 10.1016/j.semarthrit.2021.04.012
pubmed: 34144382
pmcid: 8384675
Campochiaro C, De Luca G, De Santis M (2021) Anti-Ku syndrome with elevated CK: association with myocardial involvement in systemic sclerosis. Ann Rheum Dis 80:e113
doi: 10.1136/annrheumdis-2019-216070
pubmed: 31377727
Shah M, Shinjo SK, Day J, Gupta L (2023) Cardiovascular manifestations in idiopathic inflammatory myopathies. Clin Rheumatol. https://doi.org/10.1007/s10067-023-06599-4 . Online ahead of print