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Hailey-Hailey disease - Anogenital in
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Hailey-Hailey disease - Anogenital in

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Contributors: David O'Connell MD, Belinda Tan MD, PhD, Susan Burgin MD
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Synopsis

Hailey-Hailey disease : Burning skin sensation, Erythema, Intertriginous distribution, Vegetative plaque, Skin erosions
Hailey-Hailey disease, also known as benign familial pemphigus, is an uncommon autosomal dominant disease with complete penetrance but exhibiting 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 patients and patients in middle age.

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 is common and may render lesions malodorous. 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

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Differential Diagnosis & Pitfalls

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Last Reviewed:09/08/2019
Last Updated:01/17/2022
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Hailey-Hailey disease - Anogenital in
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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.

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