UNCOMMON PRESENTATION OF HAILEY-HAILEY DISEASE: A CASE REPORT

Case Presentation HCS, 25 years old, female, presents to the outpatient clinic with lesions in the vagina and anus, without other complaints or comorbidities. Biopsy of the lesions indicated HPV as the causative agent. She used imiquimod for 16 weeks, with improvement only of vaginal lesions. On physical examination, the anus showed multiple verrucous and whitish lesions around the anal border, anterior perineum, and labia majora, but no lesions in the anal canal. Topical podophyllin was prescribed in four sessions, without reduction of the lesions. A biopsy of the lesion in the left anterior region revealed acantholytic dermatosis of the entire thickness of the epithelium, associated with Pigmentary Incontinence – Hailey-Hailey Disease (Chronic Benign Familial Pemphigus).

Discussion Hailey-Hailey disease is an uncommon acantholytic condition, not autoimmune, autosomal dominant, manifesting as erosions, plaques, fissures, vesicles, crusts, or blisters in areas of flexion (mainly axillary and inguinal). It affects young adults, with no sex preference. The clinical presentation is explained by histological changes (loss of cohesion between keratinocytes), associated with factors such as secondary infections and friction. Diagnosis is clinical and histopathological, and management involves avoiding aggravating factors (sweat and heat). Corticosteroids are used as first-line treatment, with intralesional application recommended for patients who do not respond to topical use. Other topical medications reported in case studies include calcineurin inhibitors, vitamin D analogs, gentamicin, and 5% fluorouracil. Regarding systemic therapy, doxycycline for 3 months has been effective in case series. In severe or refractory cases, botulinum toxin injection, anticholinergic agents, immunosuppressive or immunomodulatory therapy, and interventions such as phototherapy, radiotherapy, or surgical excision of lesions are recommended. Genetic counseling is advised for the patient. The patient described, in addition to presenting lesions in an unusual location (anal border) and associated with other HPV lesions, did not show improvement with imiquimod use.

Conclusion Hailey-Hailey disease is a rare genetic disorder, but with cutaneous manifestations similar to other dermatological diseases. Histological analysis is essential for diagnosis, and studies are needed to define more effective management strategies.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
25 April 2025