1. Melkersson-Rosenthal Syndrome and Acquired C1 Inhibitor Deficiency
- Author
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Olivier Chosidow, F. Masson, J.C. Piette, S. Agbo-Godeau, H. Szpirglas, Stéphane Barete, V. Frémeaux-Bacchi, and Camille Francès
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,C1 inhibitor deficiency ,Dermatology ,Complement C1 Inactivator Proteins ,Complement Hemolytic Activity Assay ,Risk Assessment ,Sensitivity and Specificity ,Severity of Illness Index ,Sampling Studies ,Macrocheilitis ,C1-inhibitor ,Rare Diseases ,Melkersson–Rosenthal syndrome ,Humans ,Medicine ,Aged ,Retrospective Studies ,Palsy ,Melkersson-Rosenthal Syndrome ,biology ,business.industry ,Complement C4 ,Complement C3 ,Middle Aged ,Prognosis ,medicine.disease ,Combined Modality Therapy ,biology.protein ,Female ,business ,Biomarkers ,Rare disease - Abstract
Background: Melkersson-Rosenthal syndrome (MRS) is a rare disease whose full-blown form is characterized by orofacial swelling, facial palsy and lingua plicata. Objective: To investigate the complement system as well as its role in patients with MRS. Methods: Seven patients presenting at this hospital between November 2002 and May 2003 and meeting the diagnostic criteria according to Hornstein were evaluated retrospectively. The investigations included clinical signs, an analysis of the complement system including levels of CH50, C3, C4, C1 inhibitor (INH) functions and C1-INH antigen detection. Results: Two female patients showed isolated low levels of functional C1-INH as determined by duplicate tests. Both patients took estrogen-progestin contraceptives. Conclusion: Since deficiency in plasma protease C1-INH is known to lead to recurrent angioedema, we hypothesize that low levels of functional C1-INH may have contributed to the orofacial swelling in the 2 patients.
- Published
- 2008