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Hailey-Hailey disease
See also in: Anogenital
Other Resources UpToDate PubMed

Hailey-Hailey disease

See also in: Anogenital
Contributors: Shannon Wongvibulsin MD, PhD, David O'Connell MD, Belinda Tan MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Hailey-Hailey disease, also known as benign familial pemphigus, is an uncommon autosomal dominant disease with complete penetrance but variable expression. It primarily affects intertriginous skin, mostly the axillae, groin, lateral neck, and perianal region. The posterior neck, inframammary area, antecubital fossae, and popliteal fossae may be involved less frequently, as may nonintertriginous skin. There is no sex predilection, and onset tends to be in the late-second-to-third decade of life, although it has been reported in younger and middle-aged patients.

Hailey-Hailey disease begins as tiny, flaccid vesicles that may coalesce into bullae on normal or erythematous skin. The fragile bullae tend to rupture, leaving moist erosions and crusts. Vegetative, eroded plaques may form in established lesions. The eroded plaques tend to spread peripherally with central clearing, resulting in a circinate and/or serpiginous morphology. Microbial colonization and infection are common and may render malodorous lesions. Segmental involvement along the lines of Blaschko due to mosaicism has been reported. Pruritus and pain may be associated with the lesions, especially in high-friction areas.

Hailey-Hailey disease is caused by mutations in the ATP2C1 gene on chromosome 3. This gene encodes a Ca2+/Mn2+ ATPase protein. The abnormal protein alters calcium signaling and thereby leads to acantholysis.

The course is chronic, but severity tends to wax and wane. Heat, humidity, friction, and ultraviolet (UV) exposure are known to exacerbate this disease.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
79468000 – Familial benign pemphigus

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Candidiasis – beefy red; look for satellite pustules
  • Inverse psoriasis – look for associated nail changes such as pitting
  • Intertrigo
  • Bullous impetigo
  • Dermatophyte infection – rarely bullous (see Tinea cruris and Tinea corporis)
  • Pemphigus vegetans
  • Pemphigus foliaceus
  • Linear IgA bullous dermatosis
  • Mucous membrane pemphigoid
  • Granular parakeratosis – mostly seen in female axillae; brownish red papules coalesce to plaques
  • Extramammary Paget disease
  • Amicrobial pustulosis of the folds
  • Papular acantholytic dyskeratosis (see Darier disease and Transient acantholytic dermatosis)

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:09/09/2023
Last Updated:09/10/2023
Copyright © 2024 VisualDx®. All rights reserved.
Hailey-Hailey disease
See also in: Anogenital
A medical illustration showing key findings of Hailey-Hailey disease : Burning skin sensation, Erythema, Intertriginous distribution, Vegetative plaque, Skin erosions
Clinical image of Hailey-Hailey disease - imageId=31267. Click to open in gallery.  caption: 'A well-demarcated, macerated, erythematous plaque with many linear and few tiny round erosions in the axilla.'
A well-demarcated, macerated, erythematous plaque with many linear and few tiny round erosions in the axilla.
Copyright © 2024 VisualDx®. All rights reserved.