Update on juvenile dermatomyositis: New advances in understanding its etiopathogenesis

Current Opinion in Rheumatology

Volumn 15, Issue 5, 2003, Pages 595-601

  Wargula, Jennifer C ^a,b  

^a UNIVERSITY AT BUFFALO   (United States)

^b CHILDREN S HOSPITAL OF BUFFALO   (United States)

Author keywords

Etiopathogenesis; Genetics; Juvenile dermatomyositis; Microarray

Indexed keywords

CELL ADHESION MOLECULE; COMPLEMENT; HLA DQ ANTIGEN; TUMOR NECROSIS FACTOR ALPHA;

AUTOIMMUNE DISEASE; CELLULAR IMMUNITY; DERMATOMYOSITIS; DISEASE COURSE; ENVIRONMENTAL FACTOR; GENE OVEREXPRESSION; GENETIC PREDISPOSITION; HUMAN; IMMUNE RESPONSE; INFECTION; JUVENILE DERMATOMYOSITIS; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

CHILD; CHILD, PRESCHOOL; DERMATOMYOSITIS; GENE EXPRESSION PROFILING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY;

EID: 0042830648     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-200309000-00013     Document Type: Review

References (47)

1. Pachman LM: Juvenile dermatomyositis: immunogenetics, pathophysiology, and disease expression. Rheum Dis Clin North Am 2002, 28:579-602. This recent review on juvenile dermatomyositis gives a comprehensive overview of current knowledge regarding the genetics and pathophysiology that affect disease expression of JDM. It focuses on aspects of cellular and humoral immunity as well as immunogenetics of this most common of the idiopathic inflammatory myopathies in children.
2. el-Azhary RA, Pakzad SY: Amyopathic dermatomyositis: retrospective review of 37 cases. J Am Acad Dermatol 2002, 46:560-565. This retrospective case review of amyopathic dermatomyositis describes a group of 37 patients, of which seven were under the age of 18 years, and supports this diagnosis as a distinct clinical entity from dermatomyositis, which does not progress to myopathy and has a favorable prognosis.
3. Rennebohm R: Juvenile dermatomyositis. Pediatr Ann 2002, 31:426-433. An easy-to-read general overview of JDM in regard to epidemiology, pathology, clinical manifestations, diagnosis, clinical course, and treatment.
4. Bitnum S, Daeschner CW, Travis LB, et al.: Dermatomyositis. J Pediatr 1964, 64:101-130.
5. Ramanan AV, Feldman BM: Clinical outcomes in juvenile dermatomyositis. Curr Opin Rheumatol 2002, 14:658-662. A recent review of clinical features, clinical outcomes and prognosis.
6. Mendez EP, Lipton RB, Dyer A, et al.: US incidence of JDM 1995-1998 from the NIAMS Registry. Arthritis Care Res, in press.
7. Gardner-Medwin JM, Dolezalova P, Cummins C, et al.: Incidence of Henoch-Schonlein purpura, Kawasaki disease, and rare vasculitides in children of different ethnic origins. Lancet 2002, 360:1197-1202. This study evaluated the incidence and ethnic distribution of several primary vasculitides and conditions complicated by vasculitis, such as systemic lupus erythematosus and JDM, in children of the West Midlands, a region of the United Kingdom described as having a diverse ethnic mix.
8. Chowdhary V, Wakhlu A, Agarwal A, et al.: Outcome in juvenile dermatomyositis. Indian Pediatr 2002, 39:931-935.
9. Pachman LM, Mendez E, Lou H, et al.: Parent report of antecedent illness and environmental factors before onset of juvenile dermatomyositis (JDM): NIAMS JDM registry data [abstract]. Arthritis Rheum 1999, 42:S136.
10. Hengstman GJ, van Venrooij WJ, Vencovsky J, et al.: The relative prevalence of dermatomyositis and polymyositis in Europe exhibits a latitudinal gradient. Ann Rheum Dis 2000, 59:141-142.
11. Reed AM, Mendez EP, Pachman LM: Geographical and environmental exposures in the development of juvenile dermatomyositis. Arthritis Rheum 2000; 43:1880.
12. Rider LG, Miller FW: Classification and treatment of the juvenile idiopathic inflammatory myopathies. Rheum Dis Clin N Am 1997, 23:619-655.
13. Pachman LM, Hayford JR, Chung A, et al.: Juvenile dermatomyositis at diagnosis: clinical characteristics of 79 children. J Rheumatol 1998, 25:1198-1204.
14. Schwarz A, Bhardwaj R, Arganc Y, et al.: Ultraviolet B induced apoptosis of keratinocytes: evidence for partial involvement of tumor necrosis factor-alpha in the formation of sunburn cells. J Invest Dermatol 1995, 104:922-927.
15. Pachman LM, Hayford JR, Hochberg MC, et al.: New-onset juvenile dermatomyositis: comparisons with a healthy cohort and children with juvenile rheumatoid arthritis. Arthritis Rheum 1997, 40:1526-1533.
16. Massa M, Costouros N, Maszoli F, et al.: Self epitopes shared between human skeletal myosin and Streptococcus pyogenes M5 protein are targets of immune responses in active juvenile dermatomyositis. Arthritis Rheum 2002, 46:3015-3025. This study is important, as the investigators found evidence that the pathogenesis of JDM is antigen-driven, with molecular mimicry playing a role in disease pathogenesis. Homology was found to exist between a peptide sequence native to human skeletal myosin and one extracted from a common bacterial pathogen to which children are frequently exposed, Streptococcus pyogenes. Results of this study reportedly represent the first identification of a self epitope in JDM with potential for antigen-specific immune therapy.
17. Crowson AN, Magro CM, Dawood MR: A causal role for parvovirus B19 infection in adult dermatomyositis and other autoimmune syndromes. J Cutan Pathol 2000, 27:505-515.
18. Chevrel G, Calvet A, Belin V, et al.: Dermatomyositis associated with the presence of parvovirus B19 DNA in muscle. Rheumatol 2000, 39:1037-1039.
19. Martinez-Cordero E, Martinez-Marinada E, Aguilar Leon DE: Autoantibodies in juvenile dermatomyositis. Clin Rheum 1993, 12:426-428.
20. Schroter HM, Sarnet HB, Matheson DS, et al.: Juvenile dermatomyositis induced by toxoplasmosis. J Child Neurol 1987, 2:101-104.
21. Albani S, Costouros N, Massa M, et al.: Identification of cross-reactive epitopes on human skeletal myosin and streptococcal M5 protein in patients with juvenile dermatomyositis (JDM). Arthritis Rheum 1997, 40:S140.
22. Martini A, Ravelli A, Albani S, et al.: Recurrent juvenile dermatomyositis and cutaneous necrotizing arthritis with molecular mimicry between streptococcal type M5 protein and human skeletal myosin. J Pediatr 1992, 121:739-742.
23. Rider LG, Okada S, Sherry DD, et al.: Epidemiologic features and environmental exposures associated with illness onset in juvenile idiopathic inflammatory myopathy (JIIM). Arthritis Rheum 1995, 38:S362.
24. Kissel JT, Mendell JR, Rammohan KW: Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med 1986, 314:329-334.
25. Emslie-Smith AM, Engel AG: Microvascular changes in early and advanced dermatomyositis: a quantitative study. Ann Neurol 1990, 27:343-356.
26. Kissel JT, Halterman RK, Rammohan KW, et al.: The relationship of complement-mediated microvasculopathy to the histologic features and clinical duration of disease in dermatomyositis. Arch Neurol 1991, 48:26-30.
27. Rollins SA, Sims PJ: The complement-inhibitory activity of CD59 resides in its capacity to block incorporation of CD59 into C5b-9. J Immunol 1990, 144:3478-3483.
28. Navenot JM, Villanova M, Lucas-Heron B, et al.: Expression of CD59, a regulator of the membrane attack complex of complement, on human skeletal muscle fibers. Muscle Nerve 1997, 20:92-96.
29. Goncalves FG, Chimelli L, Sallum AM, et al.: Immunohistological analysis of CD59 and membrane attack complex of complement in muscle in juvenile dermatomyositis. J Rheumatol 2002, 29:1301-1307. Results of this study demonstrated decreased CD59 expression on the sarcolemma and vessels in muscle of JDM patients and increased MAC deposition in the blood vessels of JDM patients, relative to patients with muscular dystrophy and children with normal muscle biopsies. These findings support the role of complement and complement-mediated vascular injury in the pathogenesis of this disease.
30. Casque P, Morgan BP, Legoedec J, et al.: Human skeletal myoblasts spontaneously activate allogenic complement but are resistant to killing. J Immunol 1996, 156:3402-3411.
31. Mojcik CF, Shevach EM: Adhesion molecules: a rheumatologic perspective. Arthritis Rheum 1997, 40:991-1004.
32. Bloom BJ, Miller LC, Tucker LB, et al.: Soluble adhesion molecules in juvenile rheumatoid arthritis. J Rheumatol 1999, 26:2044-2048.
33. Bloom BJ, Miller LC, Blier PR: Soluble adhesion molecules in pediatric rheumatic diseases. J Rheumatol 2002, 29:832-836. This study represents a cross-sectional pilot study of several soluble adhesion molecules in some of the pediatric rheumatic diseases. While it is a relatively small cohort with no pediatric controls used, its results suggest that these molecules may become candidates for use as markers of disease activity and response to therapy.
34. Lutz J, Huwiler KG, 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. This study suggests yet another link between the evolution of chronic disease that is more difficult to control and the TNFα-308A allele in children with JDM, with increased TSP-1 levels perhaps participating in the neovascularization of the vascular bed in this disease.
35. Shamim EA, Rider LG, Miller FW: Update on the genetics of the idiopathic inflammatory myopathies. Curr Opin Rheumatol 2000, 12:482-491.
36. Reed AM, Stirling JD: Association of the HLA-DQA1*0501 allele in multiple racial groups with juvenile dermatomyositis. Human Immunol 1995, 44:131-135.
37. Pachman LM, Liotta-Davis MR, Hong DK, et al.: TNFα-308A allele in juvenile dermatomyositis - associations with increased TNFα production, disease duration and pathological calcifications. Arthritis Rheum 2000, 43:2368-2377.
38. Pachman LM, Fedczyna TO, Lutz JL, et al.: Juvenile dermatomyositis: the association of the TNFα-308A allele and disease chronicity. Curr Rheumatol Rep 2001, 5:379-386.
39. 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 TNFα allele. Arthritis Rheum 1999, 42:S403.
40. Jimenez B, Volpert OV, Crawford SE, et al.: Signals leading to apoptosis-dependent inhibition of neovascularization by thrombospondin-1. Nature Med 2000, 6:41-48.
41. Pachman LM, Klein-Gitelman MS, Daaboul J, et al.: Increased non-fasting insulin levels in children with juvenile dermatomyositis (JDM) are associated with the TNFA2 allele (AA, CA) and increased disease duration. Arthritis Rheum 1998, 41:S203.
42. Thornton CA, Welle SL: Molecular fingerprints of inflammatory myopathies [editorial]. Neurol 2002, 59:1128-1129.
43. Greenberg SA, Sanoudou D, Haslett JN, et al.: Molecular profiles of inflammatory myopathies. Neurol 2002, 59:1170-1182. While not specifically focusing on children with JDM, this article is important in laying the groundwork for differentiating the genetic profiles of the inflammatory myopathies from other myopathies (dystrophic and congenital myopathies) and from normal muscle. Additionally, the use of microarray technology to differentiate among the genetic profiles of the major idiopathic inflammatory myopathies was fruitful in determining relative overexpression of certain genes in dermatomyositis, a finding similar among children and adults with this disease, suggesting that while not entirely the same disease in these age groups, there is overlap in disease pathogenesis in children and adults with DM.
44. Tezak Z, Hoffman EP, Lutz JL, et al.: Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. J Immunol 2002, 168:4154-4163. This is an exceptionally important study that pulls together the results of various bodies of research into the pathogenesis of JDM to hypothesize a model of antigen-driven induction of autoimmune disesse based on the dynamic interactions of at least three pathologic cascades in the muscle and vascular bed in the genetically susceptible child (HLA-DQA1*0501+), with TNF-α possibly mediating between cascades and resulting in deleterious cross-talk between cascades. This novel model of pathogenesis seems to corroborate the role of TNF-α polymorphisms and differential production of this inflammatory mediator in determining disease expression in susceptible children.
45. Tezak Z, Hoffman EP, Pachman LM: Expression profiling in untreated juvenile dermatomyositis changes associated with a short compared with a long disease duration. J Neurol 2001, 56:A210.
46. Hoffman EP, Rao D, Pachman LM: Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays. Rheum Dis Clin N Am 2002, 28:743-757. This review article discusses some of the insights into disease pathogenesis that have resulted from use of microarray technology and gene expression profiling in JDM patients.
47. Pachman LM, Tezak Z, Bakay M, et al.: Differential gene expression profiles in DQA1*0501(+) untreated JDM muscle are associated with increased IFN response compared with DQA1*0501 negative JDM. Arthritis Rheum 2001, 44:S399.