Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation

J Pediatr Hematol Oncol. 2016 Mar;38(2):e75-7. doi: 10.1097/MPH.0000000000000455.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / genetics*
  • Humans
  • Male
  • Mutation*
  • Myositis / genetics*
  • Phosphoric Diester Hydrolases / genetics*

Substances

  • Phosphoric Diester Hydrolases
  • USB1 protein, human