Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease.
Chronic granulomatous disease (CGD) is characterized by a bactericidal defect involving the oxidative metabolism of polymorphonuclear leukocytes (PML) and is most often transmitted as an X-linked trait. The cutaneous features of this disorder include infections and lupus-like rashes. These have been described in female carriers as well as in males with the disease. Two cases of siblings presenting an autosomal form of CGD syndrome, with lupus-like cutaneous manifestations, are reported here.
D000293:Adolescent; D000328:Adult; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree