Generalized Hailey–Hailey disease with flexural keratotic papules: An interesting presentation and remarkable response with minocycline

Abstract

Hailey–Hailey disease is a hereditary blistering disorder characterized by episodic vesicles, pustules, erosions, and maceration mainly in intertriginous areas with generalized eruptions encountered rarely. We present a case of generalized HHD with keratotic papules over flexural areas along with its dermoscopic features; treated successfully with minocycline alone.

Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

“…In this study, we presented three HHD probands from three different Chinese HHD pedigrees, who presented with atypical clinical features involving generalized, rather than intertriginous-restricted lesions. The examined lesion in the proband from family 2 also showed papillomatous proliferation, which has rarely been reported in the literature (Chauhan et al, 2019;Lu et al, 2019). The lesion was initially confounded by warty dyskeratosis, but a definite diagnosis was made based on ATP2C1 gene mutation.…”

“…Histopathological sections obtained from his neck and right thigh showed prominent hyperkeratosis, parakeratosis, acantholysis likened to a "dilapidated brick wall," and lymphocyte infiltration in the superficial dermis (Figure 4a,b). Hematoxylin and eosin staining also revealed papillomatous proliferation in the lesion on his right thigh, which is an uncommon finding only reported in a few cases of HDD (Figure 4a) (Chauhan et al, 2019;Lu et al, 2019) To the best of our knowledge, two aberrant splice pattern variants from a single mutation in ATP2C1 have rarely been reported (Kono et al, 2018). Four other relatives (I:2, II:3, III:2, and III:5) in this four-generation family also demonstrated similar clinical characteristics and harbored the same ATP2C1 mutation (Figure 5e).…”

“…Histopathological sections obtained from his neck and right thigh showed prominent hyperkeratosis, parakeratosis, acantholysis likened to a “dilapidated brick wall,” and lymphocyte infiltration in the superficial dermis (Figure 4a,b). Hematoxylin and eosin staining also revealed papillomatous proliferation in the lesion on his right thigh, which is an uncommon finding only reported in a few cases of HDD (Figure 4a) (Chauhan et al, 2019; Lu et al, 2019). The patient was diagnosed with HHD with a generalized, symmetrical pattern.…”

Botulinum toxin in treating Hailey‐Hailey disease: A systematic review

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Hailey-Hailey disease, also called benign familial chronic pemphigus, is a rare autosomal dominant disorder characterized by recurrent painful blistering, erosions, maceration in the intertriginous regions. 1,2 Hailey-Hailey disease is caused by mutations in the ATP2C1 gene located on chromosome 3q21-q24, whose function is to transport Ca 2+ /Mn 2+ into the Golgi apparatus and maintain normal intracellular concentrations of Ca 2+ /Mn 2+3 . The appearance of "dilapidated brick wall" was a characteristic histopathologic change of Hailey-Hailey disease.

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