Catalog

Hailey-Hailey disease

No MMS code

Link to WHO Definition

Hailey-Hailey disease – http://id.who.int/icd/entity/818400628

Hailey–Hailey disease is a rare hereditary autosomal dominant intraepidermal, blistering disease characterised by recurrent vesicles and erosions, usually affecting the neck, axillae and groins. It is caused by mutations in one copy of ATP2C1, a gene on chromosome 3q21 that encodes the human secretory-pathway Ca2+/Mn2+-ATPase isoform 1 (hSPCA1) on the Golgi membrane.