title: Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis.
abstract: Eosinophilic myositis is characterized by eosinophilic infiltration of skeletal muscles. In the absence of an identifiable causative factor or source (including parasitic infection, intake of drugs or L-tryptophan, certain systemic disorders as well as malignant diseases), the diagnosis of idiopathic eosinophilic myositis is usually retained. However, some muscular dystrophies have been recently identified in this subset of eosinophilic myositis. Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation characteristic of myotonic dystrophy type 2 (DM2), whose first manifestation was "idiopathic" eosinophilic myositis. This report suggests that in "idiopathic" eosinophilic myositis, clinicians should consider muscular dystrophies, including DM2.
authors.affiliation: Hôpital de Hautepierre, Centre de Référence des Maladies Auto-immunes Rares, Service de Rhumatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Nouvel Hôpital Civil, Service des Explorations Fonctionnelles, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: alain.meyer1@chru-strasbourg.fr.
authors.forename: Alain
authors.initials: A
authors.lastname: Meyer
authors.affiliation: Hôpital de Hautepierre, Service de Pathologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Lannes
authors.affiliation: Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: Raphaël
authors.initials: R
authors.lastname: Carapito
authors.affiliation: Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: Seiamak
authors.initials: S
authors.lastname: Bahram
authors.affiliation: Hôpital de Hautepierre, Service de Neurologie, Centre de Référence des Pathologies Neuromusculaire, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.affiliation: Nouvel Hôpital Civil, Service des Explorations Fonctionnelles, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Bernard
authors.initials: B
authors.lastname: Geny
authors.affiliation: Hôpital de Hautepierre, Centre de Référence des Maladies Auto-immunes Rares, Service de Rhumatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Sibilia
authors.affiliation: Hôpital de Hautepierre, Centre de Référence des Maladies Auto-immunes Rares, Service de Rhumatologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Jacques Eric
authors.initials: JE
authors.lastname: Gottenberg
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000150:complications / Q000235:genetics; D042622:DNA Repeat Expansion / Q000235:genetics*; D004804:Eosinophils / Q000473:pathology*; D005260:Female; D006801:Humans; D009220:Myositis / Q000209:etiology*; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C433227:CNBP protein, human; D016601:RNA-Binding Proteins
keywords: Eosinophilic myositis; Inflammatory myopathies; Myositis; Myotonic dystrophy type 2; Polymyositis