A rare report of pediatric hailey-hailey disease

Summary: Abstract Body: Abstract: Background: Hailey-Hailey Disease (HHD) is an autosomal dominant disorder caused by ATP2C1 gene mutations, leading to recurrent erosions and blisters in flexural areas like the axillae, groin, and neck. Typically manifesting between ages 20-40, we report a case of pediatric-onset HHD in a patient who began experiencing symptoms at 13, highlighting variability in presentation and the importance of recognizing hereditary patterns. Observation: A 15-year-old female with a family history of HHD presented with a two-year history of irritation and hyperpigmentation beneath her breasts, later spreading to the axillae with associated pruritus, pain, and tightness. Initially treated with hydrocortisone ointment, clotrimazole cream, and hygiene counseling, her symptoms persisted. A punch biopsy performed one year later confirmed HHD, revealing acantholytic dermatosis. Treatment was updated to include Tacrolimus 0.1% ointment, Cetirizine, and a three-month course of doxycycline. Maintenance strategies incorporated antiperspirants, zinc oxide paste, and continued Tacrolimus. The patient adhered to the plan, with significant symptom improvement and better quality of life. She was counseled on the chronic nature of HHD and the need for long-term management. Pediatric cases of HHD are rare, with few reports describing patients under 18, making diagnosis in younger patients challenging. In this case, symptoms began at 13, likely contributing to the diagnostic delay despite a positive family history and emphasizing the critical role of family history in diagnosis. Early recognition in patients with a positive family history may facilitate timely diagnosis and treatment. This highlights the importance of a proactive approach to evaluating hereditary conditions in pediatric patients. Olga Gomeniouk¹, Hannah Becker¹, Vida Ehyaee² 1. Rush University Rush Medical College, Chicago, IL, United States. 2. Pathology, Rush University Medical Center, Chicago, IL, United States. Genetic Disease, Gene Regulation, Gene Therapy & Epigenetics