Antidesmoglein antibodies in a patient with Hailey-Hailey disease

作者：Bennani I; Ofaiche J; Uthurriague C; Fortenfant F; Lamant L; Nougue J^*

来源：Annales de Dermatologie et de Venereologie, 2012, 139(10): 621-625.

DOI：10.1016/j.annder.2012.05.025

• Hailey-Hailey disease
• Antidesmoglein antibodies
• Pemphigus

Background. - 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 in autoimmune pemphigus.
Patients and methods. - 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).
Discussion. - 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.

• 出版日期2012-10