Cutaneous manifestations of complement deficiencies.
In this review we address the main cutaneous manifestations and diseases associated with deficiencies in components of the complement system. The first part is devoted to hereditary angioedema, in which acute, sometimes life-threatening recurrent attacks of acute swelling, usually associated with gastrointestinal symptoms, occur. It is related to a structural or functional deficiency of C1 esterase inhibitor. Patients usually have lowered C4 levels, and diagnosis relies on determination of antigenic and/or functional C1 inhibitor level. The second part focuses on lupus erythematosus, as deficiencies in early components of the complement system, such as C1q, C1r, C1s, C2 or C4, are the strongest known disease susceptibility genes for the development of human systemic lupus erythematosus. Severe infections early in life and marked photosensitivity in a patient with lupus erythematosus are clues to an underlying complement deficiency. The genetic background and the clinical associations of the different components of the complement system will be detailed.
Lipsker
D
D
Faculté de Médecine, Université de Strasbourg, Clinique Dermatologique, France. dan.lipsker@chru-strasbourg.fr
Hauptmann
G
G
D003172:Complement C1 / Q000172:deficiency / Q000235:genetics; D003175:Complement C2 / Q000187:drug effects / Q000235:genetics; D003181:Complement C4 / Q000187:drug effects / Q000235:genetics; D003165:Complement System Proteins / Q000172:deficiency* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000209:etiology; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology
D003172:Complement C1; D003175:Complement C2; D003181:Complement C4; D003165:Complement System Proteins