Approach to a Patient with Connective Tissue Disease Authors
Symposium on Pediatric Rheumatology-II
First Online: 06 October 2010 Received: 25 June 2010 Accepted: 06 July 2010 DOI:
Cite this article as: Kumar, T.S. & Aggarwal, A. Indian J Pediatr (2010) 77: 1157. doi:10.1007/s12098-010-0207-x Abstract
Connective tissue disease (CTDs), though rare in childhood, are an important cause of morbidity. Most of them involve multiple organ systems and are associated with presence of autoantibodies. Systemic lupus eryethematosus (SLE) is the most common CTD, the others being Juvenile dermatomyositis, systemic sclerosis, mixed connective disease and Sjogren syndrome. The clinical presentation of CTD in childhood can range from an acute severe illness mimicking a serious infection, to an insidious onset of disease with gradual accumulation of symptoms and signs over wks to months. The presence of multi-system involvement, evidence of inflammation and lack of any obvious cause should alert a clinician to the possibility of CTD. Diagnosis is usually clinical and features like malar rash, Raynaud’s phenomenon, Gottron’s rash, photosensitivity, oral ulcers suggest a possibility of CTD. Presence of autoantibodies like anti-nuclear antibodies, anti-dsDNA etc. provide supportive evidence to a diagnosis of CTD. Most CTDs are treated with immunosuppressive drugs with good success. Early recognition and prompt treatment results in excellent outcome
Keywords Autoantibodies Autoimmune diseases Connective tissue disease Systemic lupus erythematosus References
Falcini F. Vascular and connective tissue diseases in the paediatric world. Lupus. 2004;13:77–84.
Hochberg M. Updating the American College of rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997;40:1725.
Moore TL, Bandlamudi R, Alam SM, Nesher G. Parvovirus infection mimicking systemic lupus erythematosus in a pediatric population. Semin Arthritis Rheum. 1999;28:314–8.
Schlienger RG, Bircher AJ, Meier CR. Minocycline-induced lupus: a systematic review. Dermatology. 2000;200:223–31.
Bohan A, Peter JB. Polymyositis and dermatomyositis [part 1 of 2]. New Engl J Med. 1975;292:344–7.
Zulian F, Athreya BH, Laxer R, Nelson AM, de Oliveira SK Fetiosa, Punaro MG, et al. Juvenile localized scleroderma: Clinical and epidemiological features in 750 children: an international study. Rheumtaology (Oxford). 2005;44:1–7.
Zulian F, Woo P, Athreya BH, et al. The Pediatric Rheumatology European Society/American College of Rheumatology/European league against rheumatism provisional classification criteria for juvenile systemic sclerosis. Arth Rheum. 2007;57:203–12.
Kasukawa R, Tojo T, Miyawaki S, et al. Preliminary diagnostic criteria for classifcation of mixed connective tissue disease. In: Kasukawa R, Sharp GC, eds. Mixed Connective Tissue Disease and Anti-nuclear Antibodies. Excerpta Medica 1987:41–8.
Cutolo M, Sulli A, Secchi ME, Paolino S, Pizzorni C. Nailfold capillaroscopy is useful for the diagnosis and follow-up of autoimmune rheumatic diseases. A future tool for the analysis of microvascular heart involvement? Rheumatology. 2006;45:iv43–6.
Lee YH, Woo JH, Choi SJ, Ji JD, Song GG. Induction and maintenance therapy for lupus nephritis: a systematic review and meta-analysis. Lupus. 2010;19:703–10.
Yee CS, Gordon C, Dostal C, et al. EULAR randomised controlled trial of pulse cyclophosphamide and methylprednisolone versus continuous cyclophosphamide and prednisolone followed by azathioprine and prednisolone in lupus nephritis. Ann Rheum Dis. 2004;63:525–9.
Chan TM, Tse KC, Tang CS, et al. Long-term study of mycophenolate mofetil as continuous induction and maintenance treatment for diffuse proliferative lupus nephritis. J Am Soc Nephrol. 2005;16:1076–84.
Anolik JH, Barnard J, Cappione A, Pugh-Bernard AE, Felgar RE, Looney RJ, et al. Rituximab improves peripheral B cell abnormalities in human systemic lupus erythematosus. Arthritis Rheum. 2004;11:3580–90.
Macdermott EJ, Adams A, Lehman TJ. SLE in children current and emerging therapies. Lupus. 2007;16:677–83.
Feldman BM, Rider LG, Reed AM, Pachman LM. Juvenile dermatomyositis and other idiopathic inflammatory myopathies in childhood. Lancet. 2008;371:2201–12.
Al-Mayouf S, Al-Mazyed A, Bahabri S. Efficacy of early treatment of severe juvenile Dermatomyositis with intravenous methylprednisolone and methotrexate. Clin Rheumatol. 2000;19:138–41.
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;47:505–11.
Al-Mayouf SM, Laxer RM, Schneider R, et al. Intravenous immunoglobulin therapy for juvenile dermatomyositis: efficacy and safety. J Rheumatol. 2000;27:2498–503.
Riley P, Maillard SM, Wedderburn LR, et al. Intravenous cyclophosphamide pulse therapy in juvenile dermatomyositis. A review of efficacy and safety. Rheumatology (Oxford). 2004;43:491–6.
Kobayashi I, Yamada M, Takahashi Y, et al. Interstitial lung disease associated with juvenile dermatomyositis: clinical features and efficacy of cyclosporin A. Rheumatology (Oxford). 2003;42:371–4.
Olson NY, Lindsley CB. Adjunctive use of hydroxychloroquine in childhood dermatomyositis. J Rheumatol. 1989;16:1545–7.
Hollar CB, Jorizzo JL. Topical tacrolimus 0.1% ointment for refractory skin disease in dermatomyositis: a pilot study. J Dermatolog Treat. 2004;15:35–9.
Uziel Y, Feldman BM, Krafchik BR, Yeung RS, Laxer RH. Methotrexate and corticosteroid therapy for pediatric localized scleroderma. J Pediatr. 2000;136:91–5.
Martini G, Athimalaipet V, Ramanan V, et al. Successful treatment of severe or methotrexate-resistant juvenile localized scleroderma with mycophenolate mofetil. Rheumatology(Oxford). 2009;48:1410–3.
Tucker LB, Menon S, Schaller JG, Isenberg DA. Adult and childhood-onset systemic lupus erythematosus: a comparison of onset, clinical features, serology, and outcome. Br J Rheumatol. 1995;34:866–72.
Hagelberg S, Lee Y, Bargman J, et al. Long-term followup of childhood lupus nephritis. J Rheumatol. 2002;29:2635–42.
Huber AM, Lang B, LeBlanc CMA, et al. Medium- and long-term functional outcomes in a multicenter cohort of children with juvenile dermatomyositis. Arthritis Rheum. 2000;43:541–9.
Bottoni CR, Reinker KA, Gardner RD, et al. Scleroderma in childhood: a 35-year history of cases and review of the literature. J Pediatr Orthop. 2000;20:442–9.
CrossRef PubMed Copyright information
© Dr. K C Chaudhuri Foundation 2010