Refractory Hailey–Hailey disease cleared with upadacitinib

Abstract

Hailey–Hailey disease, also known as familial benign pemphigus, is a rare blistering genodermatosis. The genetic abnormality responsible for Hailey–Hailey disease is an autosomal dominant mutation in the ATP2Cl gene which codes a P-type Ca(2+)-transport ATPase.1 Impaired Ca(2+) signaling can lead to disrupted development of desmosomes of the epidermis, which results in acantholysis.2 Hailey–Hailey disease typically presents with painful, erythematous, and erosive lesions at sites of friction, including the inframammary regions, inguinal folds, and scrotum.

Topics & Concepts