Therapeutics in Dermatology
A reference textbook in dermatology

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Hailey-Hailey disease (Benign familial pemphigus)



In 1939, the brothers Howard and Hugh Hailey described an uncommon autosomal dominant inherited disorder, Hailey-Hailey disease (HH), caused by mutations in the ATP2C1 gene which interfere with intracellular calcium-pump mechanism resulting primarily in a loss of cellular adhesion (acantholysis) in the stratum spinosum of the epidermis [1, 2].

The initial lesions of HH usually develop during the second or third decades of life and are characterized by recurrent erythematous eroded, macerated or crusted plaques, sometimes with overlying flaccid vesicles, involving the flexural areas [3]. The lesions are symmetrically distributed on the neck, axillae, groin, perianal and inframammary folds [4]. Pruritus and pain are usual symptoms. In patients with limited or atypical disease, longitu­dinal leukonychia may serve as a diagnostic clue [4, 5].

Some factors can exacerbate the pre-existing skin lesions, like friction, heat, microbial colonization and secondary infections which usually lead to malodor [4]. An important, but rare, complication is the development of cutaneous squamous cell carcinoma, particularly in chronic anogenital lesions, probably related to the increased predisposition to infections with oncogenic strains of HPV and the impairment of the structural integrity of the epidermis [6, 7].

Pathologically [8-11] in the early lesions it is possible to identify lacunae formed by suprabasilar clefts that progress to widespread pronounced acantholysis of the full-thickness epidermis, sometimes referred to as a “dilapidated brick wall” (Figure 1 and Figure 2). Dermal papillae protrude into the blister cavities and are referred to as “villi”. A variable patchy acute or chronic inflammatory infiltrate of lymphocytes and eosinophils is identified, and in chronic lesions epidermal hyperplasia, parakeratosis and focal crusts are found. Absence of adnexal involvement is an important feature to differentiate HH from pemphigus. Direct and indirect immunofluorescence studies are negative in HH.

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