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http://dx.doi.org/10.1111/j.1365-4632.2012.05725.xDOI Listing

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We report the case of a 3-year-old boy who was diagnosed with childhood pemphigus vulgaris having developed oral lesions, gastrointestinal symptoms with esophageal involvement, and failure to thrive. He had a markedly increased total serum IgE level and peripheral blood eosinophilia. The pemphigus was recalcitrant to conventional therapies and, based on the coexisting characteristics of Th2 immune deviation, he was treated with dupilumab and has had sustained clinical improvement since starting treatment.

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Article Synopsis
  • Hailey-Hailey disease (HHD) is a rare genetic skin condition caused by a mutation in the ATP2C1 gene, leading to skin erosions mainly in sweat-prone areas.
  • A particular case examined involved a middle-aged woman with severe, widespread HHD that was resistant to treatment, which ultimately led to her death.
  • Diagnosis was confirmed through tissue samples and genetic testing, revealing a specific mutation; there is a need for greater awareness to enhance patient care for this rare variant of HHD.
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