Antidesmoglein antibodies in a patient with Hailey-Hailey disease



Hailey-Hailey disease (HHD) is a rare hereditary disease in which the genetic defect is characterized by mutation in the ATP2C1 gene coding for a transmembrane calcium pump. It is generally considered a non-immunologic acantholytic dermatosis in which direct and indirect immunofluorescence studies are negative, unlike

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in autoimmune pemphigus.


We describe a case of HHD associated with antidesmoglein antibodies in a 53-year-old woman. The clinical symptoms and histology were typical of HHD. Antidesmoglein antibody tests were positive on several occasions and a difference was found between the two types of Elisa test performed (positive with the MBL kit, negative with the Euroimmun kit).


The positive result for desmoglein antibodies could be due to unmasking of antigens by the mechanism of acantholysis. The specificity of the main desmoglein Elisa tests also requires discussion.

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