Recalcitrant Hailey-Hailey disease successfully treated with topical ruxolitinib cream and dupilumab
Juna Khang, Joseph Michael Yardman‐Frank, Li-Chi Chen, Hye Jin Chung
Abstract
Hailey-Hailey disease (HHD) is a rare, chronic autosomal dominant dermatosis characterized by erythematous, painful vesicles and erosions at sites of friction. Individuals with HHD have a mutation on chromosome 3q 21-24 in the ATP2C1 gene causing a defect in the Ca2+/Mn2+ ATPase secretory pathway in the Golgi complex, resulting in abnormal intracellular calcium homeostasis.1 This pump defect leads to impaired keratinocyte adhesion in the suprabasal layer of the epidermis.
Topics & Concepts
MedicineHailey–Hailey diseaseDupilumabEpidermis (zoology)Darier DiseaseDermatologyDiseaseKeratinocytePathologyImmunologyBiologyAnatomyGeneticsAtopic dermatitisIn vitroGenetic and rare skin diseases.Cancer and Skin LesionsHedgehog Signaling Pathway Studies