BENIGN FAMILIAL PEMPHIGUS (HAILEY HAILEY DISEASE)

Course overview

HAILEY-HAILEY DISEASE (HHD) IS A RARE AUTOSOMAL DOMINANT GENODERMATOSES CAUSED BY MUTATIONS IN THE ATP2C1 GENE THAT ENCODES A CALCIUM PUMP OF THE GOLGI APPARATUS. HHD IS CHARACTERIZED BY RUPTURED VESICLES AND BLISTERS THAT TEND TO FORM ERODED, ERYTHEMATOUS PLAQUES WITH PAINFUL “RHAGADES” IN FLEXURAL AREAS. HISTOLOGICALLY, ACANTHOLYSIS THROUGHOUT THE EPIDERMIS IS A HALLMARK OF HHD. THERE IS NO CURATIVE TREATMENT. IN MILD CASES, MANAGEMENT IS BASED ON INTERMITTENT TOPICAL ANTI-INFLAMMATORY TREATMENTS AND ANTISEPTICS APPLICATIONS. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, CLINICAL PRESENTATION, EVALUATION, AND MANAGEMENT OF PATIENTS WITH HHD AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.