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Hereditary complement (C9) deficiency associated with dermatomyositis.
- Source :
-
British Journal of Dermatology . May2001, Vol. 144 Issue 5, p1080. 4p. - Publication Year :
- 2001
-
Abstract
- Summary A 28-year-old Japanese woman with hereditary complement (C9) deficiency and dermatomyositis is reported. She had a 3-year history of facial erythema and a 1-month history of progressive muscle weakness. Clinical and laboratory findings were suggestive of dermatomyositis; muscle biopsy confirmed an inflammatory myopathy. An unexpected finding, however, was the low titre of serum haemolytic complement (CH50). Treatment with prednisolone resulted in marked clinical improvement but did not affect the CH50 titre. Further investigation revealed a selective and total absence of the ninth complement component (C9), with direct DNA sequence analysis revealing a non-sense mutation at Arg[sup 95] of the C9 gene. This case demonstrates that the muscle lesions of dermatomyositis can occur in the presence of a complement defect that would prevent the formation of the C5b-9 membrane attack complex. [ABSTRACT FROM AUTHOR]
- Subjects :
- *DISEASES in women
*DEFICIENCY diseases
*DERMATOMYOSITIS
*ERYTHEMA
*MUSCLE diseases
Subjects
Details
- Language :
- English
- ISSN :
- 00070963
- Volume :
- 144
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- British Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 4616981
- Full Text :
- https://doi.org/10.1046/j.1365-2133.2001.04204.x