Hailey Hailey Disease

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Hailey Hailey Disease

Hailey Hailey Disease is an autosomal dominant acantholytic disorder caused by mutations in ATP2C1, which encodes a Golgi associated calcium ATPase responsible for intracellular calcium homeostasis. Defective calcium sequestration within the Golgi apparatus impairs desmosomal protein processing and keratinocyte adhesion, resulting in suprabasal acantholysis. The disease typically presents in adolescence to early adulthood but can occur across a wide age range. Clinically, it favors intertriginous areas including the lateral neck, inframammary regions, axillae, groin, and perianal areas, where friction and moisture exacerbate disease activity. Patients develop flaccid vesicles on normal or erythematous skin that rupture easily, forming macerated and eroded plaques with circinate morphology. Lesions are prone to secondary infection, including severe eczema herpeticum also termed Kaposi varicelliform eruption. Histopathology demonstrates psoriasiform epidermal hyperplasia with diffuse acantholysis throughout the epidermis, producing the classic dilapidated wall appearance. Management includes procedural approaches such as CO2 laser ablation in refractory cases.

Inheritance and Genetics

  • Autosomal Dominant DOMINO Brand Telescope Box = Autosomal dominant inheritance
  • Old And Young Comet Viewers = Wide age range of onset
  • Kid Saying “I Hope To See 1” = Mutation in ATP2C1 gene
  • Gold G Belt = Calcium ATPase of the Golgi apparatus

Clinical Features

  • Kid With Red Lights On Spacesuit = Affects intertriginous sites
  • Macerated Erosion On The Ground = Flaccid vesicles that rupture forming macerated eroded plaques
  • Circular Shape = Circinate morphology of lesions
  • Astronaut Wearing Hermes Helmet = Prone to secondary infections including severe C varicellaform eruption

Histology

  • Psoriasiform Hyperplastic Tree = Psoriasiform hyperplasia
  • Broken Dilapidated Bricks = Diffuse acantholysis with dilapidated wall appearance

Treatment

  • Laser Beam = CO2 laser ablation

Quiz

Question 1
Which gene is mutated in Hailey Hailey disease?

A. ATP2A2
B. ATP2C1
C. DSG1
D. KRT5

Question 2
Hailey Hailey disease is inherited in which pattern?

A. Autosomal recessive
B. X linked recessive
C. Autosomal dominant
D. Mitochondrial

Question 3
Which histologic feature produces the classic dilapidated wall appearance?

A. Subepidermal blister
B. Interface dermatitis
C. Diffuse acantholysis
D. Hypergranulosis

Question 4
Hailey Hailey most commonly affects which locations?

A. Extensor elbows and knees
B. Sun exposed facial skin
C. Intertriginous areas
D. Palms and soles

Question 5
Which morphology is characteristic of Hailey Hailey lesions?

A. Tense bullae
B. Targetoid plaques
C. Circinate eroded plaques
D. Verrucous papules

Question 6
The ATP2C1 gene encodes which protein?

A. Desmoglein 3
B. Calcium ATPase of the Golgi apparatus
C. Type VII collagen
D. Keratin 14

Question 7
Which severe secondary infection can complicate Hailey Hailey disease?

A. Staphylococcal scalded skin syndrome
B. Kaposi varicelliform eruption
C. Toxic epidermal necrolysis
D. Erythrasma

Answers:
1 B. ATP2C1
2 C. Autosomal dominant
3 C. Diffuse acantholysis
4 C. Intertriginous areas
5 C. Circinate eroded plaques
6 B. Calcium ATPase of the Golgi apparatus
7 B. Kaposi varicelliform eruption