Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma.
A family with hereditary deficiency of the second component of complement was studied. Three siblings were homozygous for C2 deficiency and two of them had associated skin diseases. One sister presented with idiopathic atrophoderma and the other had clinical and pathological manifestations of discoid lupus erythematosus. This is the first description of an association between idiopathic atrophoderma and C2 deficient state.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D003174:Complement C1 Inactivator Proteins; D003175:Complement C2 / Q000032:analysis / Q000172:deficiency*; D003165:Complement System Proteins / Q000032:analysis; D003677:Deficiency Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000150:complications*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012871:Skin Diseases / Q000150:complications* / Q000235:genetics / Q000276:immunology / Q000473:pathology
D003174:Complement C1 Inactivator Proteins; D003175:Complement C2; D003165:Complement System Proteins