Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease

Two Caucasian carriers for chronic granulomatous disease (CGD) developed cu taneous lupus erythematosus (LE) with clinically and morphologically charac teristic appearance for chronic discoid lupus erythematosus (DLE) and lupus erythematosus tumidus (LET), Direct immunofluorescent examinations and ANA titers were positive in both young women. No systemic involvement due to t he ACR criteria was evident. Their sons suffered from X-linked cytochrome-b negative CGD. The diagnosis of CGD was based on measurement of oxidative b urst activity by nitroblue tetrazolium (NBT) slide test and by flow cytomet ry using dihydrorhodamine 123 (DHR). The absence of cytochrome b(558) in ne utrophilic granulocytes was confirmed photometrically and by flow cytometry using the 7D5 monoclonal antibody against cytochrome b. We report for the first time the association of the photosensitive LE subtype LET and the X-l inked CGD carrier state. Tissue damage by UV radiation and a reduced antimi crobial capacity may lead to recurrent immune stimulation and may together with genetic predisposition explain the occurrence of cutaneous LE in femal e carriers of CGD.