Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency.
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.


CONCLUSIONS
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.
Masson
F
F
Department of Dermatology and Allergy, Tenon Hospital, Paris, France.
Barete
S
S
Frémeaux-Bacchi
V
V
Szpirglas
H
H
Agbo-Godeau
S
S
Chosidow
O
O
Piette
J C
JC
Francès
C
C
D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000032:analysis*; D003131:Combined Modality Therapy; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000276:immunology; D003176:Complement C3 / Q000032:analysis / Q000276:immunology; D003181:Complement C4 / Q000032:analysis / Q000276:immunology; D015941:Complement Hemolytic Activity Assay; D005260:Female; D006801:Humans; D008297:Male; D008556:Melkersson-Rosenthal Syndrome / Q000175:diagnosis* / Q000276:immunology* / Q000628:therapy; D008875:Middle Aged; D011379:Prognosis; D035583:Rare Diseases; D012189:Retrospective Studies; D018570:Risk Assessment; D012494:Sampling Studies; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index
D015415:Biomarkers; D003174:Complement C1 Inactivator Proteins; D003176:Complement C3; D003181:Complement C4