Ann Clin Neurophysiol.  2017 Jul;19(2):141-144. 10.14253/acn.2017.19.2.141.

Extensive inflammatory reaction in facioscapulohumeral muscular dystrophy

• Choi JH
• Park YE
• Shin JH
• Lee CH
• Kim DS

• KMID: 2387236
• DOI: http://doi.org/10.14253/acn.2017.19.2.141

Abstract

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.

Keyword

Facioscapulohumeral muscular dystrophy; Inflammation; Immunohistochemistry

MeSH Terms

Adolescent
Biopsy
Female
Humans
Immunohistochemistry
Inflammation
Muscular Dystrophy, Facioscapulohumeral*
Myositis

Figure

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  Fig. 1. Muscle biopsy with routine histochemistry. Muscle biopsy specimen stained with hematoxylin-eosin (A, B) and Gomori trichrome (C, D). Extensive inflammatory cellular infiltrations are evident in the endomysial and perivascular space. There are also marked variations in fiber size and the prolif-eration of connective tissue. White bars indicate 100 μm.

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  Fig. 2. Muscle biopsy with immunohistochemistry. Cellular composition of inflammatory infiltrates in the patient's biceps muscle (A–E). Staining with hematoxylin-eosin (A) and immunostaining for CD8+ T cells (B), CD4+ T cells (C), B (CD20) cells (D), and macrophages (CD68) (E). CD4+ T cells and macrophages are mainly evident. A few CD8+ T cell are also scattered in the endomysial spaces, but they do not surround or invade any normal-appearing muscle fibers, while normal looking-muscle fibers are focally surrounded and invaded by CD8+ T cells in polymyositis (F). Immunohistochemical localization of MHC class I (G). MHC class I reactivity is evident on the sarcolemma of muscle fibers as well as in the extracellular matrix and endothelium. Immunohistochemical localization of MAC deposits (H–J). MAC deposits are evident within necrotic fibers (H) but not on vessel walls (I), However, in dermatomyositis (J), the vessels including endomysial capillaries are strongly stained with MAC. The black bar indicates 100 μm. MHC, major histocom-patibility complex; MAC, membrane attack complex.

Reference

1.Tawil R., Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006. 34:1–15.

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.

4.Wulff JD., Lin JT., Kepes JJ. Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome. Ann Neurol. 1982. 12:398–401.

5.Bacq M., Telerman-Toppet N., Coërs C. Familial myopathies with restricted distribution, facial weakness and inflammatory changes in affected muscles. J Neurol. 1985. 231:295–300.

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.

7.Dalakas MC., Hohlfeld R. Polymyositis and dermatomyositis. Lancet. 2003. 362:971–982.

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.

9.Michaelis D., Goebels N., Hohlfeld R. Constitutive and cytokine-in-duced expression of human leukocyte antigens and cell adhesion molecules by human myotubes. Am J Pathol. 1993. 143:1142–1149.

10.Molnár M., Diószeghy P., Mechler F. Inflammatory changes in facioscapulohumeral muscular dystrophy. Eur Arch Psychiatry Clin Neurosci. 1991. 241:105–108.