Hailey–Hailey disease (HHD), or benign familial chronic pemphigus, is a rare autosomal-dominant genodermatosis caused by mutations in the ATP2C1 gene, which encodes the calcium/manganese (Ca2+/Mn2+) ATPase hSPCA1 that regulates Ca2+homeostasis in the Golgi apparatus. Mutations in this gene disrupt desmosome formation and keratinocyte adhesion, leading to epidermal acantholysis and recurrent vesicopustular and erosive lesions in intertriginous areas. HHD follows a chronic relapsing course, with flares triggered by heat, friction, or infections, markedly impairing quality of life. Therapeutic management is challenging, and standardized treatment guidelines are lacking [1]. Emerging evidence suggests a potential role for oral magnesium chloride (MgCl2) in disease control.

Targeting Intracellular Calcium Dysregulation in Hailey–Hailey Disease: A Case‐Based Rationale for Oral Magnesium Chloride Therapy / Corio, A., Zampino, M.R., Di Meo, N., Zalaudek, I.. - In: INTERNATIONAL JOURNAL OF DERMATOLOGY. - ISSN 0011-9059. - 65:7(2026), pp. 1482-1483. [10.1111/ijd.70294]

Targeting Intracellular Calcium Dysregulation in Hailey–Hailey Disease: A Case‐Based Rationale for Oral Magnesium Chloride Therapy

Corio, Andrea
Primo
;
di Meo, Nicola
Penultimo
;
Zalaudek, Iris
Ultimo
2026-01-01

Abstract

Hailey–Hailey disease (HHD), or benign familial chronic pemphigus, is a rare autosomal-dominant genodermatosis caused by mutations in the ATP2C1 gene, which encodes the calcium/manganese (Ca2+/Mn2+) ATPase hSPCA1 that regulates Ca2+homeostasis in the Golgi apparatus. Mutations in this gene disrupt desmosome formation and keratinocyte adhesion, leading to epidermal acantholysis and recurrent vesicopustular and erosive lesions in intertriginous areas. HHD follows a chronic relapsing course, with flares triggered by heat, friction, or infections, markedly impairing quality of life. Therapeutic management is challenging, and standardized treatment guidelines are lacking [1]. Emerging evidence suggests a potential role for oral magnesium chloride (MgCl2) in disease control.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/3134178
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