title: Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.
abstract: Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticular skin pigmentation, oral cavity leukoplakia, and nail dystrophy. A variety of noncutaneous (dental, pulmonary, gastrointestinal, neurological, genitourinary, ophthalmic, and skeletal) abnormalities also have been reported. An 8-year-old boy with DC developed juvenile idiopathic inflammatory myopathy. C16orf57 mutation was identified as a genetic cause of DC. Treatment with methylprednisolone was initiated, followed with methotrexate, prednisolone, and high-dose intravenous immunoglobulin treatment. This is the first report on a patient with juvenile idiopathic inflammatory myopathy and DC.
authors.affiliation: Department of Pediatric Immunology, Uludag University Medical Faculty, Görükle, Bursa, Turkey.
authors.forename: Sara S
authors.initials: SS
authors.lastname: Kilic
authors.forename: Sukru
authors.initials: S
authors.lastname: Cekic
mesh_terms: D002648:Child; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009220:Myositis / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C576020:USB1 protein, human