Pediatric Infection and Vaccine

  • 제29권3호
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  • Pages.166-172
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  • 2022
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  • 2384-1079(pISSN)
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  • 2384-1087(eISSN)
대한소아감염학회 (The Korean Society of Pediatric Infectious Diseases)
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A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease

  • Kyungwon Cho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Yoonsun Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Joon-sik Choi (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sang Jin Kim (Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hirokazu Kanegane (Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)) ;
  • Yae-Jean Kim (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2022.09.23
  • 심사 : 2022.12.15
  • 발행 : 2022.12.25
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초록

블라우증후군(Blau syndrome)은 nucleotide-binding oligomerization domain protein 2 (NOD2) 유전자의변이에 의해 발생하는 질환으로 육아종성 피부염 및 만성 포도막염, 관절염을 특징으로 한다. 증상이 비특이적이고 동시다발적으로 발생하지 않아 진단이 어려운 경우가 많다. 반복되는 피부 발진 및 발열에 대해 두 차례 가와사키병으로 오진되어 면역글로불린과 전신 스테로이드로 치료받은 바 있는 13개월 남자 환자에서 블라우 증후군을 진단한 증례를 보고하고자 한다.

Blau syndrome is a systemic autoinflammatory disease presenting with non-caseating granulomatous dermatitis, chronic uveitis, and arthritis. It is caused by a gain-of-function variant of the nucleotide-binding oligomerization domain protein 2 gene, which leads to the overactivation of inflammatory cytokines and eventually causes autoinflammation. Since the symptoms of Blau syndrome are nonspecific and usually do not appear simultaneously, it is challenging to differentiate Blau syndrome from other inflammatory disorders. This is a case report of a 13-month-old boy who had suffered from recurrent skin rash and fever. The patient was previously misdiagnosed as refractory Kawasaki disease twice and was treated with intravenous immunoglobulin and systemic glucocorticoid, which only resulted in transient improvement of the symptoms. He was eventually diagnosed with Blau syndrome.

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참고문헌

  1. Kurokawa T, Kikuchi T, Ohta K, Imai H, Yoshimura N. Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. Ophthalmology 2003;110:2040-4.  https://doi.org/10.1016/S0161-6420(03)00717-6
  2. Son S, Lee J, Woo CW, Kim I, Kye Y, Lee K, et al. Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. Rheumatol Int 2010;30:1121-4.  https://doi.org/10.1007/s00296-009-1342-4
  3. Kim W, Park E, Ahn YH, Lee JM, Kang HG, Kim BJ, et al. A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. Korean J Pediatr 2016;59:S5-9.  https://doi.org/10.3345/kjp.2016.59.11.S5
  4. Leong KF, Sato R, Oh GG, Surana U, Pramono ZA. Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia. Indian J Dermatol 2019;64:400-3.  https://doi.org/10.4103/ijd.IJD_44_18
  5. PaC Kisaarslan A, SOzerI B, SahIn N, OzdemIr CICek S, GUndUz Z, DemIrkaya E, et al. Blau syndrome and early-onset sarcoidosis: a six case series and review of the literature. Arch Rheumatol 2019;35:117-27. 
  6. Iriqat S, Safieh MA, Fatouleh M, Alkaiyat A. Blau syndrome: a case report from Palestine. Pediatr Rheumatol Online J 2021;19:138. 
  7. Jindal AK, Pilania RK, Suri D, Gupta A, Gattorno M, Ceccherini I, et al. A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatol Int 2021;41:173-81.  https://doi.org/10.1007/s00296-019-04316-6
  8. Okazaki F, Wakiguchi H, Korenaga Y, Nakamura T, Yasudo H, Uchi S, et al. A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes. Pediatr Rheumatol Online J 2021;19:18. 
  9. Su J, Liu D. Blau syndrome with pulmonary nodule in a child. Australas J Dermatol 2021;62:217-20.  https://doi.org/10.1111/ajd.13551
  10. Wang W, Wang W, Zhong LQ, Li WD, Wu SJ, Song HM. Thalidomide may be an effective drug for Blau syndrome: a case report. Ann Palliat Med 2022;11:2538-43.  https://doi.org/10.21037/apm-21-2216
  11. Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, et al. Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation. Ann Rheum Dis 2020;79:1492-9.
  12. Rose CD, Wouters CH, Meiorin S, Doyle TM, Davey MP, Rosenbaum JT, et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 2006;54:3337-44.  https://doi.org/10.1002/art.22122
  13. Mourad F, Tang A. Sinus of valsalva aneurysm in Blau's syndrome. J Cardiothorac Surg 2010;5:16. 
  14. Gupta A, Singh S. Kawasaki disease for dermatologists. Indian Dermatol Online J 2016;7:461-70.  https://doi.org/10.4103/2229-5178.193903
  15. Kim GB, Eun LY, Han JW, Kim SH, Yoon KL, Han MY, et al. Epidemiology of Kawasaki disease in South Korea: a nationwide survey 2015-2017. Pediatr Infect Dis J 2020;39:1012-6.  https://doi.org/10.1097/INF.0000000000002793
  16. Arostegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P, et al. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum 2007;56:3805-13.  https://doi.org/10.1002/art.22966
  17. Lu L, Shen M, Jiang D, Li Y, Zheng X, Li Y, et al. Blau syndrome with good reponses to tocilizumab: a case report and focused literature review. Semin Arthritis Rheum 2018;47:727-31. https://doi.org/10.1016/j.semarthrit.2017.09.010