Hailey-Hailey disease (familial benign chronic pemphigus)

Question 1

What is the inheritence of Hailey-Hailey?

Answer 1

• Autosomal Dominant

Question 2

Hailey Hailey is similar to what other blistering disorder?

Answer 2

• Darier’s disease

Question 3

Age of onset of Hailey-Hailey?

Answer 3

• Teens-20’s (wider range of onset than darier’s which is mostly puberty)

Question 4

Mutation in Hailey Hailey?

Answer 4

• ATP2C1

- you have to “Hail a cab 2 C 1”

Question 5

Pathogen of Hailey-Hailey with respect to the gene mutation ATP2C1:

Answer 5

• ATP2C1 gene mutation leads to defective calcium sequestration in golgi (in Dariers it was in Endoplasmic reticulum)—> impaired cell-cell adhesion–> acantholysis

Question 6

What regions of body most affected in Hailey-Hailey?

Answer 6

intertrigenous sites (especially axilla and groin)

Question 7

Describe the primary lesions of Hailey-Hailey:

Answer 7

• flaccid vesicle on normal or inflamed skin–> ruptures to give macerated, eroded plaques often with circinate shape

Question 8

What is one area of body that you will not see any findings in Hailey-Hailey to help differentiate from Darier’s disease?

Answer 8

• No Oral involvement (50% of dariers has cobblestoning of oral mucosa

Question 9

Secondary infections to be concerned for with Hailey-Hailey and Darier’s disease?

Answer 9

• Eczema herpeticum (kaposis varicelliform eruption)

Question 10

Histopath of Hailey-Hailey:

Answer 10

• psoriasiform hyperplasia (differentiates from pemphigus)
• diffuse acantholysis resembling dilapidated brick wall
• fewer dyskeratotic keratinocytes than Darier’s

Question 11

Treatment of Hailey-Hailey:

Answer 11

• Topical CS
• CO2 laser ablation very effective
• note, retinoids not nearly as effective as in Darier’s despite the similarities between these two diseases.