Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease

G R Yeaman, K Froebel, G Galea, Anthony Ormerod, Stanislaw Urbaniak

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A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.
Original languageEnglish
Pages (from-to)60-65
Number of pages6
JournalBritish Journal of Dermatology
Issue number1
Publication statusPublished - 1 Jan 1992



  • Adolescent
  • Cytochrome b Group
  • Female
  • Glucosephosphate Dehydrogenase Deficiency
  • Granulomatous Disease, Chronic
  • Heterozygote
  • Heterozygote Detection
  • Humans
  • Luminescent Measurements
  • Lupus Erythematosus, Discoid
  • Neutrophils
  • Nitroblue Tetrazolium

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