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

Area of Science:

• Dermatology
• Genetics
• Pathology

Background:

• Hailey-Hailey disease (HHD), or benign familial pemphigus, is a rare autosomal dominant genodermatosis.
• It stems from mutations in the ATP2C1 gene, disrupting keratinocyte adhesion and calcium homeostasis.

Purpose of the Study:

• To present a case of Hailey-Hailey disease in a 50-year-old male.
• To highlight the diagnostic process, including clinical and histopathological features.
• To discuss management strategies and the importance of accurate diagnosis.

Main Methods:

• Clinical examination of a patient with a ten-year history of recurrent skin lesions.
• Histopathological analysis of a skin biopsy.
• Exclusion of differential diagnoses such as intertrigo and Darier disease.

Main Results:

• Diagnosis of HHD confirmed by characteristic histopathological findings, including epidermal changes and acantholysis resembling a "dilapidated brick wall".
• Patient presented with lesions in the axilla and groin, without systemic comorbidities or family history.
• Management involved immunomodulators and topical antibiotics.

Conclusions:

• Correlating clinical and histopathological findings is crucial for diagnosing HHD and differentiating it from other intertriginous dermatoses.
• Timely diagnosis and individualized management improve outcomes for this chronic condition.
• Understanding ATP2C1 mutations may lead to future targeted therapies.