INTRODUCTION
Hailey-Hailey disease (HHD), also called benign familial pemphigus or benign chronic pemphigus, is a rare, autosomal dominant disorder that affects the adhesion of epidermal keratinocytes. This chronic, relapsing condition is characterized by recurrent painful blistering, erosions, maceration, and frequent secondary infections in the intertriginous and flexural areas. HHD is caused by loss-of-function variants in the ATP2C1 gene at 3q22.1, which encodes the ATP-powered, magnesium-dependent calcium pump protein hSPCA1. Its function is to maintain normal intracellular concentrations of free calcium by sequestering calcium into the Golgi apparatus.1 While the precise mechanism is not completely understood, the genetic defect causes high cytosolic calcium levels, resulting in altered cellular connections within the epidermis. HHD can also be exacerbated by trauma, friction, sweat, and secondary infections. Although rare, HHD is a chronic and painful condition that can impact a patient’s physical and psychological well-being.
Currently, there is no cure for the disease. The mainstay of existing treatments focuses on the management of the disease and avoidance of moisture, which is largely based on case reports and small observational studies. Topical therapies are considered first-line for mild manifestations of the disease and include topical antibiotics, antifungals, corticosteroids, and calcineurin inhibitors.2 Patients with severe disease manifestations have shown improvement with the addition of systemic treatments such as oral antibiotics and/or intralesional botulinum toxin injections.3 Last-line treatments include surgical excision, ablation, or radiation therapy.4
Dupilumab, or Dupixent, is a human monoclonal antibody that inhibits interleukin-4 (IL-4) and interleukin-13 (IL-13) signaling and has been approved for use in conditions such as atopic dermatitis, asthma, and prurigo nodularis. Dupilumab has shown long-term safety and efficacy in treating atopic dermatitis. This drug has a favorable safety profile with the most common adverse events including nasopharyngitis, conjunctivitis, and injection-site reactions.5 This report documents a case of successful treatment of refractory Hailey-Hailey disease with dupilumab.
Currently, there is no cure for the disease. The mainstay of existing treatments focuses on the management of the disease and avoidance of moisture, which is largely based on case reports and small observational studies. Topical therapies are considered first-line for mild manifestations of the disease and include topical antibiotics, antifungals, corticosteroids, and calcineurin inhibitors.2 Patients with severe disease manifestations have shown improvement with the addition of systemic treatments such as oral antibiotics and/or intralesional botulinum toxin injections.3 Last-line treatments include surgical excision, ablation, or radiation therapy.4
Dupilumab, or Dupixent, is a human monoclonal antibody that inhibits interleukin-4 (IL-4) and interleukin-13 (IL-13) signaling and has been approved for use in conditions such as atopic dermatitis, asthma, and prurigo nodularis. Dupilumab has shown long-term safety and efficacy in treating atopic dermatitis. This drug has a favorable safety profile with the most common adverse events including nasopharyngitis, conjunctivitis, and injection-site reactions.5 This report documents a case of successful treatment of refractory Hailey-Hailey disease with dupilumab.
CASE REPORT
A 40-year-old female with a past medical history of hypothyroidism and atopic dermatitis presented to the clinic with a chief complaint of recurrent skin lesions and erosions to the bilateral axilla for four years. The patient reported intermittent burning and soreness associated with the rash. She also had a history of methicillin-resistant Staphylococcus aureus (MRSA) skin infections in the areas, which were treated with Bactrim courses by her primary care physician. The patient denied a family history of blistering cutaneous disease.
On physical exam, there were well-defined, erythematous, scaly papules and plaques with linear erosions and yellow crusting in the bilateral axillary vaults (Figure 1). A biopsy of the right axilla demonstrated full-thickness suprabasilar acantholysis
On physical exam, there were well-defined, erythematous, scaly papules and plaques with linear erosions and yellow crusting in the bilateral axillary vaults (Figure 1). A biopsy of the right axilla demonstrated full-thickness suprabasilar acantholysis
