‘Atypical’ Cases of Hailey-Hailey Disease May Represent Typical Examples of a Type 2 Segmental Manifestation

Bittar, Mario; Happle, Rudolf

doi:10.1159/000083506

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…This leads to decreased calcium concentration, which impairs posttranslational processing of junctional proteins involved in epidermal cell–cell adhesion . Postzygotic‐localized mutations may cause segmental manifestations of Hailey–Hailey disease .…”

mentioning

confidence: 99%

Reflectance confocal microscopy as a non‐invasive diagnostic tool for Hailey–Hailey disease

Kurzeja¹,

Czuwara²,

Rakowska³

et al. 2014

Skin Research and Technology

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confidence: 99%

Reflectance confocal microscopy as a non‐invasive diagnostic tool for Hailey–Hailey disease

Kurzeja¹,

Czuwara²,

Rakowska³

et al. 2014

Skin Research and Technology

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“…A study of 58 patients with HHD in the United Kingdom indicated that predilection sites were flexure areas, including the groin, axilla, perineum, inframammary region, umbilicus, and retroauricular region, in descending order, as well as neck/nape, shoulders, chest, arms, and back [2]. Lesions are typically symmetric, although postzygotic loss of gene function can result in asymmetric type 1 or segmental type 2 disease [6].…”

Section: Discussionmentioning

confidence: 99%

Familial benign pemphigus atypical localization

Reyes

Halac²,

Mainardi³

et al. 2016

Dermatology Online Journal

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“…Atypical cases of HHD have been reported [10, 11]. The cases show an overtly asymmetrical and segmental involvement and have been mostly categorized as ‘atypical’ [12]. Recent research has provided evidence that such cases are typical examples of type 2 segmental HHD.…”

Section: Discussionmentioning

confidence: 99%

Novel Mutation in <i>ATP2C1</i> Gene in a Japanese Patient with Hailey-Hailey Disease

et al. 2006

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Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca²⁺ pump. We analyzed mutations of the ATP2C1 gene in 2 Japanese patients with HHD. The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analyzed by sequencing. As a result, we identified a novel missense mutation (A1087G) in exon 13 of the ATP2C1 gene in a patient. This mutation led the amino acid change from Thrto Ala in the phosphorylation protein domain. Another patient showed no mutation of the gene. These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Japanese HHD patients.

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‘Atypical’ Cases of Hailey-Hailey Disease May Represent Typical Examples of a Type 2 Segmental Manifestation

Cited by 6 publications

References 9 publications

Reflectance confocal microscopy as a non‐invasive diagnostic tool for Hailey–Hailey disease

Reflectance confocal microscopy as a non‐invasive diagnostic tool for Hailey–Hailey disease

Familial benign pemphigus atypical localization

Novel Mutation in <i>ATP2C1</i> Gene in a Japanese Patient with Hailey-Hailey Disease

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