Tofacitinib as a promising treatment for refractory erythroderma-like Hailey-Hailey disease.

Abstract

Purpose: Hailey-Hailey disease (HHD), a rare autosomal dominant blistering disorder predominantly affecting intertriginous areas, is characterized by chronic relapsing courses that cause substantial morbidity. Despite multiple available therapeutic modalities, management of refractory cases remains challenging.

Materials and methods: This case report details a 67-year-old male with severe erythroderma-like HHD, whose genetic analysis revealed a heterozygous nonsense mutation (c.1774C > T) in the ATP2C1 gene. Following conventional therapies, the patient developed treatment-related complications. Therefore, oral tofacitinib was administered as an alternative treatment.

Results: The patient achieved marked clinical improvement post-tofacitinib administration, with no treatment-emergent adverse events.

Conclusions: This case indicates that tofacitinib may serve as a promising therapeutic option for refractory erythroderma-like HHD, particularly in cases linked to ATP2C1 mutations.