It has been demonstrated experimentally that the
bullae observed in autoimmune
pemphigus are due to the action of
proteases. So far, no case of
pemphigus associated with deficiency in
antiprotease has been reported. We present a case of
pemphigus associated with familial deficiency in
alpha 1-antitrypsin (alpha 1-AT), a major human body
antiprotease. A 35-year old man presented with
pemphigus preceded during 18 months, and accompanied by
pruritus. The lesions were polymorphous, being made of solitary
bullae, circinate vesiculobullae and squamous scabie plaques. Histopathological examination showed an intraepidermal
bulla with
acantholysis, a very spongiosis. The diagnosis of autoimmune
pemphigus was confirmed by fluorescence of the epidermis in
IgG and C3 and by the presence of
antibodies directed against the intracellular substance. The initial treatment, which consisted of
prednisolone 10 mg/kg/day and 10
plasma exchanges, was rapidly successful, but several relapses occurred thereafter. Two years after the
pemphigus was diagnosed, a
panlobular emphysema was discovered which made it possible to demonstrate a severe familial deficiency in alpha 1-AT of the Pi phenotype. This is the first published case of alpha 1-AT deficiency associated with autoimmune
pemphigus. In our patient the
skin disease presented as herpetiform
pemphigus (initial features of
dermatitis herpetiformis, followed by misleading polymorphous lesions, rare acantholytic cells, good response to
corticosteroids), but there was no eosinophilic spongiosis. The frequency of alpha1-AT deficiency (estimated at 1 in 1,000 in northern Europe) and the lack of published cases with such an association may suggest a pure coincidence.(ABSTRACT TRUNCATED AT 250 WORDS)