Navigating Diagnostic Complexity in Hailey-Hailey Disease: A Case Report with Clinical-histopathological Correlation.

Abstract

Hailey-Hailey disease (HHD), also known as benign familial pemphigus, is a rare autosomal dominant genodermatosis caused by mutations in the ATP2C1 gene. These mutations impair keratinocyte adhesion and disrupt calcium homeostasis, leading to characteristic clinical and histopathological findings. Herein, we present the case of a 50-year-old male with a ten-year history of recurrent, pruritic, erythematous erosions and maceration in the left axilla and groin. Clinical examination revealed no systemic comorbidities or relevant family history. Histopathological analysis of skin biopsy demonstrated hallmark features, including epidermal hyperkeratosis, suprabasal and intraepidermal clefting, and acantholysis with the distinctive "dilapidated brick wall" appearance, confirming the diagnosis of HHD. Differential diagnoses, including intertrigo, Darier disease, and pemphigus vegetans, were excluded based on clinical and histological findings. The patient was managed with immunomodulators and topical antibiotics, with follow-up care focused on symptom alleviation and infection prevention. This case underscores the importance of correlating clinical and histopathological findings in diagnosing HHD and differentiating it from other intertriginous dermatoses. Despite its chronic and recurrent nature, timely and accurate diagnosis, coupled with individualized management, significantly enhances patient outcomes. This report also highlights the unique histological feature of acantholysis resembling a "dilapidated brick wall", pivotal in distinguishing HHD. Advances in understanding the molecular pathogenesis of ATP2C1 mutations hold promise for the development of targeted therapies, offering hope for more effective management of this challenging condition in the future.