DOI QR코드

DOI QR Code

Extensive inflammatory reaction in facioscapulohumeral muscular dystrophy

  • Choi, Jae-Hwan (Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital) ;
  • Park, Young-Eun (Department of Neurology, Biomedical Research Center, Pusan National University Hospital) ;
  • Shin, Jin-Hong (Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital) ;
  • Lee, Chang-Hoon (Department of Pathology, Biomedical Research Center, Pusan National University Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital)
  • 투고 : 2017.04.12
  • 심사 : 2017.06.05
  • 발행 : 2017.07.31

초록

In facioscapulohumeral muscular dystrophy (FSHD), prominent inflammatory cellular infiltrates mimicking inflammatory myopathies are often observed in muscle biopsies. We report extensive inflammatory changes in a 16-year-old girl who was genetically confirmed as to have FSHD. Immunohistochemical staining revealed that this could be clearly distinguished from inflammatory myopathies, both in terms of cell subsets and the expression of antigenic targets. Our observations strongly suggest that the inflammatory cellular infiltrates in FSHD differ from those observed in inflammatory myopathies.

키워드

참고문헌

  1. Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34:1-15. https://doi.org/10.1002/mus.20522
  2. Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve Suppl 1995;2:S56-S66.
  3. Munsat TL, Piper D, Cancilla P, Mednick J. Inflammatory myopathy with facioscapulohumeral distribution. Neurology 1972;22:335-347. https://doi.org/10.1212/WNL.22.4.335
  4. Wulff JD, Lin JT, Kepes JJ. Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome. Ann Neurol 1982;12:398-401. https://doi.org/10.1002/ana.410120415
  5. Bacq M, Telerman-Toppet N, Coers C. Familial myopathies with restricted distribution, facial weakness and inflammatory changes in affected muscles. J Neurol 1985;231:295-300. https://doi.org/10.1007/BF00313705
  6. van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996;5:1997-2003. https://doi.org/10.1093/hmg/5.12.1997
  7. Dalakas MC, Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003;362:971-982. https://doi.org/10.1016/S0140-6736(03)14368-1
  8. Bao SS, King NJ, dos Remedios CG. Elevated MHC class I and II antigens in cultured human embryonic myoblasts following stimulation with gamma-interferon. Immunol Cell Biol 1990;68(Pt 4):235-241. https://doi.org/10.1038/icb.1990.33
  9. Michaelis D, Goebels N, Hohlfeld R. Constitutive and cytokine-induced expression of human leukocyte antigens and cell adhesion molecules by human myotubes. Am J Pathol 1993;143:1142-1149.
  10. Molnar M, Dioszeghy P, Mechler F. Inflammatory changes in facioscapulohumeral muscular dystrophy. Eur Arch Psychiatry Clin Neurosci 1991;241:105-108. https://doi.org/10.1007/BF02191151

피인용 문헌

  1. Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update vol.16, pp.1, 2017, https://doi.org/10.1186/s13023-021-01760-1