Tofacitinib as a promising treatment for refractory erythroderma-like Hailey–Hailey disease
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Huaye Bao, Keyi Yu, Feilong An, Xin-gang Wu
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409945861