Juvenile dermatomyositis: Advances in pathogenesis, evaluation, and treatment

Pediatric Drugs

Volumn 11, Issue 6, 2009, Pages 361-374

  Huber, Adam M ^a  

^a IWK HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; CYCLOPHOSPHAMIDE; GAMMA INTERFERON; GENE PRODUCT; INTERFERON; METHOTREXATE; RITUXIMAB; TACROLIMUS; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR INHIBITOR;

B LYMPHOCYTE; CHIMERA; CLINICAL ASSESSMENT; DENDRITIC CELL; DERMATOMYOSITIS; DRUG DOSE INCREASE; DRUG MEGADOSE; HAPLOTYPE; HEREDITY; HLA SYSTEM; HUMAN; INFECTION; LABORATORY TEST; MUSCLE BIOPSY; MUSCLE DISEASE; MYOSITIS; NATURAL KILLER CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; PUBLICATION; REVIEW; SKIN DISEASE; UPREGULATION;

BIOPSY; DERMATOMYOSITIS; HUMANS; LABORATORIES; MAGNETIC RESONANCE IMAGING;

EID: 70449467540     PISSN: 11745878     EISSN: 11792019     Source Type: Journal    
DOI: 10.2165/11310550-000000000-00000     Document Type: Review

References (97)

1. Mendez EP, Lipton R, Ramsey-Goldman R, et al. US incidence of juvenile dermatomyositis, 1995-1998: results from the National Institute of Arthritis and Musculoskeletal and Skin Diseases Registry. Arthritis Rheum 2003; 49 (3): 300-305
2. Feldman BM, Rider LG, Reed AM, et al. Juvenile dermatomyositis and other idiopathic inflammatory myopathies of childhood. Lancet 2008; 371: 2201-2212
3. Pachman LM. Juvenile dermatomyositis: pathophysiology and disease expression. Pediatr Clin North Am 1995; 42 (5): 1071-1098
4. Wedderburn L, McHugh N, Chinoy H, et al. HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap. Rheumatology 2007; 46: 1786-1789
5. Candore G, Lio D, Colanna Romano G, et al. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: effect of multiple gene interactions. Autoimmun Rev 2002; 1 (1-2): 29-35
6. Mamyrova G, O'Hanlon T, Monroe J, et al. Immunogenetic risk and protective factors for juvenile dermatomyositis in caucasians. Arthritis Rheum 2006; 54 (12): 3979-3987
7. O'Hanlon T, Rider LG, Mamyrova G, et al. HLA polymorphisms in African Americans with idiopathic inflammatory myopathy. Arthritis Rheum 2006; 54 (11): 3670-3681
8. TomonoN, MoriM,Nakajima S, et al. HLA-DRB1*15021 is the predominant allele in Japanese patients with juvenile dermatomyositis. J Rheumatol 2004; 31 (9): 1847-1850
9. Pachman LM, Liotta-Davis M, Hong D, et al. TNFa-308A allele in juvenile dermatomyositis-association with increased TNF-alpha production, disease duration, and pathologic calcifications. Arthritis Rheum 2000; 43: 2368-2377
10. Pachman LM, Fedczyna T, Lutz J, et al. Juvenile dermatomyositis: the association of the TNFa-308 allele and disease chronicity. Curr Opin Rheumatol 2001; 5: 379-386
11. Pachman LM, Lingen M, Caliendo J, et al. Muscle biopsy findings in 38 untreated children with juvenile dermatomyositis (JDM): capillary occlusion is associated with the TNF-alpha allele [abstract]. Arthritis Rheum 1999; 42 Suppl.: S403
12. Lutz J, Huwiler K, Fedczyna T, et al. Increased plasma thrombospondin-1 (TSP-1) levels are associated with the TNF alpha-308A allele in children with juvenile dermatomyositis. Clin Immunol 2002; 103: 260-263
13. Chinoy H, Salway F, John S, et al. Tumour necrosis factor-alpha single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies. Rheumatology 2007; 46: 1411-1416
14. Hassan A, Nikitina-Zake L, Sanjeevi C, et al. Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis. Arthritis Rheum 2004; 50 (3): 1013-1015
15. Reed AM. Microchimerism in children with rheumatic disease: what does it mean? Curr Rheumatol Rep 2003; 5: 458-462
16. Reed AM, Shock L, Picornell Y. Chimerism in JDM [abstract]. Arthritis Rheum 1999; 41 Suppl.: S362
17. Artlett C, Miller FW, Rider LG. Persistent maternally derived peripheral microchimerism is associated with the juvenile idiopathic inflammatory myopathies. Rheumatology 2001; 40 (11): 1279-1284
18. Artlett C, Ramos R, Jiminez S, et al. Chimeric cells of maternal origin in juvenile idiopathic inflammatory myopathies. Childhood Myositis Heterogeneity Collaborative Group. Lancet 2000; 356 (9248): 2155-2156
19. McNallan K, Reed AM. Immunophenotyping of chimeric cells in juvenile dermatomyositis [abstract]. Arthritis Rheum 2003; 48 (9 Suppl.): S104
20. Reed AM, Picornell Y, Harwood A, et al. Chimerism in children with juvenile dermatomyositis. Lancet 2000; 356: 2156-2157
21. Reed AM, McNallan K, Wettstein P, et al. Does HLA-dependant chimerism underlie the pathogenesis of juvenile dermatomyositis? J Immunol 2004; 172: 5041-5046
22. Bakay M, Wang Z, Melcon G, et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006; 129: 996-1013
23. Tezak Z, Hoffman E, Lutz J, et al. Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. J Immunol 2002; 168 (8): 4154-4163
24. Greenberg S, Pinkus J, Pinkus G, et al. Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis. Ann Neurol 2005; 57 (5): 664-678
25. Fall N, Bove K, Stringer K, et al. Association between lack of angiogenic response in muscle tissue and high expression of angiostatic ELR-negative CXC chemokines in patients with juvenile dermatomyositis. Arthritis Rheum 2005; 52 (10): 3175-3180
26. Christen-Zaech S, Seshadri R, Sundberg J, et al. Persistent association of nailfold capillaroscopy changes and skin involvement over thirty-six months with duration of untreated disease in patients with juvenile dermatomyositis. Arthritis Rheum 2008; 58 (2): 571-576
27. Griffin TA, Reed AM. Pathogenesis of myositis in children. Curr Opin Rheumatol 2007; 19: 489-491
28. O'Connor K, Abbott K, Sabin B, et al. MxA gene expression in juvenile dermatomyositis peripheral blood mononuclear cells: association with muscle involvement. Clin Immunol 2006; 120: 319-325
29. Baechler E, Bauer J, Slattery C, et al. An interferon signature in the peripheral blood of dermatomyositis patients is associated with disease activity. Mol Med 2007; 13 (1-2): 59-68
30. Chinoy H, Salway F, John S, et al. Interferon-gamma and interleukin-4 gene polymorphisms in Caucasian idiopathic inflammatory myopathy patients in the UK. Ann Rheum Dis 2007; 66: 970-973
31. Page G, Chevrel G, Moissec P. Anatomic localization of immature and mature dendritic cell subsets in dermatomyositis and polymyositis: interaction with chemokines and Th1 cytokine-producing cells. Arthritis Rheum 2004; 50: 199-208
32. Nagaraju K, Rider LG, Fan C, et al. Endothelial cell activation and neovascularization are prominent in dermatomyositis. J AutoimmuneDis 2006; 20 (3): 2
33. Lopez de Padilla C, Vallejo A, McNallan K, et al. Plasmacytoid dendritic cells in inflamed muscle of patients with juvenile dermatomyositis. Arthritis Rheum 2007; 56 (5): 1658-1668
34. Pachman LM. Juvenile dermatomyositis: immunogenetics, pathophysiology, and disease expression. Rheum Dis Clin North Am 2002; 28: 579-602
35. Mamyrova G, Rider LG. Parvovirus B19 and onset of juvenile dermatomyositis. JAMA 2005; 294 (17): 2170-2171
36. Pachman LM, Hayford J, Hochberg M, et al. New-onset juvenile dermatomyositis: comparisons with a healthy cohort and children the juvenile rheumatoid arthritis. Arthritis Rheum 1997; 40 (8): 1526-1533
37. Pachman LM, Lipton R, Ramsey-GoldmanR, et al. History of infection before the onset of juvenile dermatomyositis: results from the National Institute of Arthritis and Musculoskeletal and Skin Diseases Research Registry. Arthritis Rheum 2005; 53 (2): 166-172
38. Vegosen L, Weinberg C, O'Hanlon T, et al. Seasonal birth patterns in myositis subgroups suggest an etiologic role for early environmental exposures. Arthritis Rheum 2007; 56 (8): 2719-2728
39. Massa M, Costouros N, Mazzoli F, et al. Self epitopes shared between human skeletal myosin and Streptococcus pyogenesM5protein are targets of immune responses in active juvenile dermatomyositis. Arthritis Rheum 2002; 46 (11): 3015-3025
40. Elst E, Klein M, de Jager W, et al. Hsp60 in inflamed muscle tissue is the target of regulatory autoreactive T cells in patients with juvenile dermatomyositis. Arthritis Rheum 2008; 58 (2): 547-555
41. Medical Research Council. War memorandum no. 7. Aids to the investigation of peripheral nerve injuries. London: H.M. Stationery Office, 1942
42. Jain M, Smith M, Cintas H, et al. Intra-rater and inter-rater reliability of the 10-point manual muscle test (MMT) of strength in children with juvenile idiopathic inflammatory myopathies (JIIM). Phys Occup Ther Pediatr 2006; 26 (3): 5-17
43. Lovell DJ, Lindsley CB, Rennebohm RM, et al. Development of disease activity and damage indices for the juvenile idiopathic inflammatory myopathies: II. The Childhood Myositis Assessment Scale (CMAS): a quantitative tool for the evaluation of muscle function. Arthritis Rheum 1999; 42 (10): 2213-2219
44. Huber AM, Feldman BM, Rennebohm RM, et al. Validation and clinical significance of the Childhood Myositis Assessment Scale (CMAS) for assessment of muscle function in the juvenile idiopathic inflammatory myopathies. Arthritis Rheum 2004; 50 (5): 1595-1603
45. Singh G, Athreya BH, Fries JF, et al. Measurement of health status in children with juvenile rheumatoid arthritis. Arthritis Rheum 1994; 37 (12): 1761-1769
46. Feldman BM, Ayling-Campos A, Luy L, et al. Measuring disability in juvenile dermatomyositis. Validity of the Childhood Health Assessment Questionnaire. J Rheumatol 1995; 22 (2): 326-331
47. Huber AM, Hicks JE, Lachenbruch PA, et al. Validation of the Childhood Health Assessment Questionnaire in the juvenile idiopathic inflammatory myopathies. J Rheumatol 2001; 28 (5): 1106-1111
48. Huber AM, Dugan EM, Lachenbruch PA, et al. The Cutaneous Assessment Tool (CAT): development and reliability in juvenile idiopathic inflammatory myopathy. Rheumatology 2007; 46 (10): 1606-1611
49. Huber AM, Dugan EM, Lachenbruch PA, et al. Preliminary validation and clinical meaning of the cutaneous assessment tool (CAT) in juvenile dermatomyositis. Arthritis Rheum 2008; 59 (2): 214-221
50. Huber AM, Lachenbruch PA, Dugan EM, et al. Alternative scoring of the Cutaneous Assessment Tool (CAT) in juvenile dermatomyositis: results using an abbreviated format. Arthritis Rheum 2008; 59 (3): 352-356
51. Carroll CL, Lang W, Snively B, et al. Development and validation of the Dermatomyositis Skin Severity Index. Br J Dermatol 2008; 158 (2): 345-350
52. Klein R, Bangert C, Costner M, et al. Comparison of the reliability and validity of outcome instruments for cutaneous dermatomyositis. Br J Dermatol 2008 Sep; 159 (4): 887-894
53. Maricq H, Blume R, LeRoy E. Wide-field study of nailfold capillary bed in disorders of connective tissue. In: 6th European Conference on Microcirculation; 1970 Jun 22-26; Aalborg. Basel: Karger, 1971: 116-122
54. Smith R, Sundberg J, Shamiyah E, et al. Skin involvement in juvenile dermatomyositis is associated with loss of end row nailfold capillary loops. J Rheumatol 2004; 31 (8): 1644-1649
55. Nascif A, Terreri M, Len C, et al. Inflammatory myopathies in childhood: correlation between nailfold capillaroscopy findings and clinical and laboratory data. J Pediatr (Rio J) 2006; 82 (1): 40-45
56. Punaro L, Stichweh D, Powell M, et al. Aspiration: hidden risk for patients with juvenile dermatomyositis [abstract]. Clin Exp Rheumatol 2004; 22 Suppl.: S104
57. McCann L, Garay S, Ryan M, et al. Oropharyngeal dysphagia in juvenile dermatomyositis (JDM): an evaluation of videofluoroscopy swallow study (VFSS) changes in relation to clinical symptoms and objective muscle scores. Rheumatology 2007; 46: 1363-1366
58. Rider LG, Feldman BM, Perez MD, et al. Development of validated disease activity and damage indices for the juvenile idiopathic inflammatory myopathies I: physician, parent and patient global assessments. Arthritis Rheum 1997; 40 (11): 1976-1983
59. Bode RK, Klein-Gitelman MS, Miller ML, et al. Disease activity score for children with juvenile dermatomyositis: reliability and validity evidence. Arthritis Care Res 2003; 49 (1): 7-15
60. Ruperto N, Ravelli A, Pistorio A, et al. The provisional Pediatric Rheumatology International Trials Organization/American College of Rheumatology/ European League Against Rheumatism disease activity core set for the evaluation of response to therapy in juvenile dermatomyositis: a prospective validation study. Arthritis Rheum 2008; 59 (1): 4-13
61. Miller FM, Rider LG, Chung Y, et al. Proposed preliminary core set measures for disease outcome assessment in adult and juvenile idiopathic inflammatory myopathy. Rheumatology 2001; 40: 1262-1273
62. Ruperto N, Ravelli A, Murray K, et al. Preliminary core sets of measures for disease activity and damage assessment in juvenile systemic lupus erythematosus and juvenile dermatomyositis. Rheumatology 2003; 42 (12): 1452-1459
63. Rider LG, Giannini EH, Brunner HI, et al. International consensus on preliminary definitions of improvement in adult and juvenile myositis. Arthritis Rheum 2004; 50 (7): 2281-2290
64. Maillard S, Jones R, Owens C, et al. Quantitative assessment of MRI T2 relaxation time in thigh muscles in juvenile dermatomyositis. Rheumatology 2004; 43: 603-608
65. Kimball AB, Summers RM, Turner M, et al. Magnetic resonance imaging detection of occult skin and subcutaneous abnormalities in juvenile dermatomyositis: implications for diagnosis and therapy. Arthritis Rheum 2000; 43 (8): 1866-1873
66. Summers RM, Brune AM, Choyke PL, et al. Juvenile idiopathic inflammatory myopathy: exercise-induced changes in muscle at short inversion time inversion-recovery imaging. Radiology 1998; 209 (1): 191-196
67. Brown V, Pilkington C, Feldman BM, et al. An international consensus survey on the diagnostic criteria for juvenile dermatomyositis (JDM). Rheumatology (Oxf) 2006; 45: 990-993
68. De Benedetti F, De Amici M, Aramini L, et al. Correlation of serum neopterin concentrations with disease activity in juvenile dermatomyositis. Arch Dis Child 1993; 69 (2): 232-235
69. Rider LG, Schiffenbauer A, Zito M, et al. Neopterin and quinolinic acid are surrogate measures of disease activity in the juvenile idiopathic inflammatory myopathies. Clin Chem 2002; 48 (10): 1681-1688
70. Eisenstein D, O'Gorman M, Pachman LM. Correlations between change in disease activity and changes in peripheral blood lymphocyte subsets in patients with juvenile dermatomyositis. J Rheumatol 1997; 24 (9): 1830-1832
71. O'Gorman M, Bianchi L, Zaas D, et al. Decreased levels of CD54 (ICAM-1)- positive lymphocytes in the peripheral blood in untreated patients with active juvenile dermatomyositis. Clin Diagn Lab Immunol 2000; 7 (4): 693-697
72. Mizuno K, Yachie A, Nagaoki S, et al. Oligoclonal expansion of circulating and tissue-infiltrating CD8+ T cells with killer/effector phenotypes in juvenile dermatomyositis syndrome. Clin Exp Immunol 2004; 137: 187-194
73. Targoff I. Myositis specific antibodies. Curr Rheumatol Rep 2006; 8 (3): 196-203
74. Mimori T, Imura Y, Nakashima R, et al. Autoantibodies in idiopathic inflammatory myopathy: an update on clinical and pathophysiological significance. Curr Opin Rheumatol 2007; 19: 523-529
75. Targoff I, Mamyrova G, Trieu E, et al. A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum 2006; 54 (11): 3682-3689
76. Feldman BM, Reichlin M, Laxer RM, et al. Clinical significance of specific autoantibodies in juvenile dermatomyositis. JRheumatol 1996; 23 (10): 1794-1797
77. Rider LG, Miller FW, Targoff I, et al. A broadened spectrum of juvenile myositis: myositis-specific autoantibodies in children. Arthritis Rheum 1994; 37 (10): 1534-1538
78. Gunawardena H, Wedderburn L, North J, et al. Clinical associations of autoantibodies to a p155/140 kDa doublet protein in juvenile dermatomyositis. Rheumatology 2008; 47 (3): 324-328
79. Li C, Hemlata V, Holton J, et al. MHC Class I overexpression on muscles in early juvenile dermatomyositis. J Rheumatol 2004; 31 (3): 605-609
80. McCann L, Li C, Varsani H, et al. Failure to over express MHC Class I on muscle biopsy in a case of amyopathic juvenile dermatomyositis. Clin Exp Rheumatol 2007; 25 (1): 96-98
81. Miles L, Bove K, Lovell DJ, et al. Predictability of the clinical course of juvenile dermatomyositis based on initial muscle biopsy: a retrospective study of 72 patients. Arthritis Rheum 2007; 57 (7): 1183-1191
82. Wedderburn L, Varsani H, Li C, et al. International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials. Arthritis Rheum 2007; 57 (7): 1192-1201
83. Miller ML, Smith R, Abbott K, et al. Use of etanecept in chronic juvenile dermatomyositis (JDM) [abstract]. Arthritis Rheum 2002; 46 Suppl.: S306
84. Miller ML, Mendez EP, Klein-Gitelman MS, et al. Experience with etanercept in chronic juvenile dermatomyositis (JDM): preliminary results [abstract]. Arthritis Rheum 2000; 43 Suppl.: S380
85. Stringer E, Feldman BM. Advances in the treatment of juvenile dermatomyositis. Curr Opin Rheumatol 2006; 18: 503-506
86. Riley P, McCann L, Maillard S, et al. Effectiveness of infliximab in the treatment of refractory juvenile dermatomyositis with calcinosis. Rheumatology 2008; 47 (6): 877-880
87. Levine T. A pilot study of rituximab therapy for refractory dermatomyositis [abstract]. Arthritis Rheum 2002; 46 Suppl.: S488
88. Endo L, Theos A, Atkinson T. Use of rituximab in refractory juvenile dermatomyositis [abstract]. Arthritis Rheum 2005; 52 Suppl.: S288
89. Cooper M, Willingham D, Brown D, et al. Rituximab for the treatment of juvenile dermatomyositis: a report of 4 pediatric cases. Arthritis Rheum 2007; 56 (9): 3107-3111
90. Dinh H, McCormack C, Hall S, et al. Rituximab for the treatment of the skin manifestations of dermatomyositis: a report of 3 cases. J Am Acad Dermatol 2007; 56 (1): 148-153
91. Fisler RE, Liang MG, Fuhlbrigge RC, et al. Aggressive management of juvenile dermatomyositis results in improved outcome and decreased incidence of calcinosis. J Am Acad Dermatol 2002; 47: 505-511
92. Ramanan A, Campbell-Webster N, Ota S, et al. The effectiveness of treating juvenile dermatomyositis with methotrexate and aggressively tapered corticosteroids. Arthritis Rheum 2005; 52 (11): 3570-3578
93. Riley P, Maillard S, Wedderburn L, et al. Intravenous cyclophosphamide pulse therapy in juvenile dermatomyositis: a review of efficacy and safety. Rheumatology 2004; 43: 491-496
94. Yamada A, Ohshima Y, Omata N, et al. Steroid-sparing effect of tacrolimus in a patient with juvenile dermatomyositis presenting with poor bioavailability of cyclosporine A. Eur J Pediatr 2004; 163 (9): 561-562
95. Martin Nalda A, Modesto Caballero C, Arnal Guimeral C, et al. Efficacy of tacrolimus (FK-506) in the treatment of recalcitrant juvenile dermatomyositis: study of 6 cases [in Spanish]. Med Clin (Barc) 2006; 127 (18): 697-701
96. Garcia-Doval I, Cruces M. Topical tacrolimus in cutaneous lesions of dermatomyositis: lack of effect in side-by-side comparison in five patients. Dermatology 2004; 209 (3): 247-248
97. Hollar C, Jorizzo JL. Topical tacrolimus 0.1% ointment for refractory skin disease in dermatomyositis: a pilot study. J Dermatol Treat 2004; 15 (1): 35-39