DISCOID LUPUS-ERYTHEMATOSUS IN AN X-LINKED CYTOCHROME-POSITIVE CARRIER OF CHRONIC GRANULOMATOUS-DISEASE

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.