“Hailey-Hailey Disease” Victor McKusick, Mendelian Inheritance in Man, 1966. 海莉-海莉病。(HHD).

Here I present: “Hailey-Hailey Disease” Victor McKusick, Mendelian Inheritance in Man’, 1966. 海莉-海莉病。(HHD).

INTRODUCTION.

Hailey–Hailey disease (HHD) was originally described by the Hailey brothers (Hugh and William) in 1939.  It is a genetic disorder that causes blisters to form on the skin.

Hailey-Hailey disease,is an autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.

There is evidence that Hailey-Hailey disease is caused by heterozygous mutation in the ATP2C1 gene on cytogenetic location 3q22.1 and genomic coordinates 3:130,850,595-131,016,712. The screenshot of the ATP2C1 gene 166,118 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ATP2C1 in the 3q22.1 cytogenetic location are listed BENEATH.