Lupus erythematosus panniculitis with partial genetic deficiency of C2 and C4 in a child.
A 7-year-old girl developed recurrent febrile nodules and subcutaneous plaques on her arm, shoulder, and face. Primary acquired toxoplasmosis was diagnosed at onset, because of associated lymphadenopathy and detection of specific IgM. Skin lesions were responsive to therapy with systemic steroids but progressed to atrophy and poikiloderma within a few months. Subsequently, chloroquine therapy has been instituted and no relapse has occurred. Histopathologic findings and direct immunofluorescence studies were diagnostic of lupus erythematosus panniculitis. Electron microscopy showed lamellar inclusions within mast cells. Results of laboratory investigations disclosed leukopenia and hypocomplementemia with low C2 serum levels. A family study of the complement system, including C4 and Bf phenotyping and HLA A, B, and DR haplotyping, revealed the carriage of both C2 and C4A null alleles in the propositus. This observation suggests an additional link between lupus erythematosus panniculitis and the remainder of the lupus erythematosus clinical spectrum.
A
A
Taïeb
J P
JP
Hehunstre
J
J
Goetz
J E
JE
Surlève Bazeille
D
D
Fizet
G
G
Hauptmann
J
J
Maleville
D000293:Adolescent; D002648:Child; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D003181:Complement C4 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010201:Panniculitis, Nodular Nonsuppurative / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D010375:Pedigree; D012867:Skin / Q000276:immunology / Q000473:pathology
D003175:Complement C2; D003181:Complement C4