A case of bullous pemphigoid associated with psoriasis vulgaris showing Hailey–Hailey disease‐like histopathological changes in regenerated epidermis without genomic mutation in <i>ATP2C1</i> or <i>ATP2A2</i> gene

Iino, Yutaka; Kano, Toshiyuki; Adachi, Fukashi; Suzuki, Midori; Nishikawa, Ryuhei; Ishii, Norito; Ohata, Chika; Furumura, Minao; Hamada, Takahiro; Hashimoto, Takashi

doi:10.1111/jdv.12521

Cited by 6 publications

(2 citation statements)

References 10 publications

(6 reference statements)

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“…Clinical phenotypes may be influenced by both intrinsic and extrinsic factors, such as genetic background, epigenetics, high temperature, humidity, pathogens, and minor trauma . Due to the rarity of HHD and the possibility of misdiagnoses for other skin diseases, genetic screening for mutations in the ATP2C1 gene would be of great value in confirming clinically suspected patients …”

Section: Discussionmentioning

confidence: 99%

“…6,36 Due to the rarity of HHD and the possibility of misdiagnoses for other skin diseases, genetic screening for mutations in the ATP2C1 gene would be of great value in confirming clinically suspected patients. 5,37 In summary, a novel ATP2C1 c.325-2A>G transition mutation was identified in a Han Chinese family with HHD. This splice-site mutation resulted in exon 5 skipping and an in-frame deletion of 12 amino acids (p.Ala109_Gln120del).…”

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confidence: 88%

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A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease

Xiao

Huang

et al. 2018

J of Cellular Biochemistry

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Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is an autosomal dominant genodermatosis. It is characterized by erosions, blisters and erythematous plaques at sites of friction or intertriginous areas. The pathogenic gene of HHD has been revealed as the ATPase secretory pathway Ca 2+ transporting 1 gene (ATP2C1), which encodes the protein, secretory pathway Ca 2+ /Mn 2+ -ATPase 1 (SPCA1). ATP2C1 gene mutations are responsible for HHD by resulting in abnormal Ca 2+ homeostasis in the skin and giving rise to acantholysis, a characteristic pathology of HHD. In this study, a four-generation family containing three HHD sufferers was recruited. Direct sequencing of the ATP2C1 gene was performed in the proband and other available family members. Reverse-transcriptase polymerase chain reaction analysis was conducted to show the potential variant effect on ATP2C1 splicing.A novel heterozygous c.325-2A>G transition at the splice acceptor site of intron 4 in the ATP2C1 gene was identified, and it co-segregated with the disease in this family. The mutation resulted in exon 5 skipping and an in-frame deletion of 12 amino acids (p.Ala109_Gln120del) in SPCA1. This splice-site mutation may be responsible for HHD in this family. This study would further expand the mutation spectrum of the ATP2C1 gene and may be helpful in the genetic counseling and prenatal diagnosis of HHD. K E Y W O R D S ATP2C1 gene, Hailey-Hailey disease (HHD), mutation analysis, Sanger sequencing, splice-site mutation J Cell Biochem. 2019;120:3630-3636. wileyonlinelibrary.com/journal/jcb 3630 |

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confidence: 99%

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confidence: 88%

A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease

Xiao

Huang

et al. 2018

J of Cellular Biochemistry

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The role of the ATP2C1 gene in Hailey–Hailey disease

Deng

Xiao

2017

Cell. Mol. Life Sci.

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Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21-q24. Its function is to maintain normal intracellular concentrations of Ca/Mn by transporting Ca/Mn into the Golgi apparatus. ATP2C1 gene mutations are reportedly responsible for abnormal cytosolic Ca/Mn levels and the clinical manifestations of HHD. Environmental factors and genetic modifiers may also affect the clinical variability of HHD. This article aims to critically discuss the clinical and pathological features of HHD, differential diagnoses, and genetic and functional studies of the ATP2C1 gene in HHD. Further understanding the role of the ATP2C1 gene in the pathogenesis of HHD by genetic, molecular, and animal studies may contribute to a better clinical diagnosis and provide new strategies for the treatment and prevention of HHD.

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Coexistence of autoimmune bullous diseases (AIBDs) and psoriasis: A series of 145 cases

Ohata

Ishii

Koga

et al. 2015

Journal of the American Academy of Dermatology

114

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A case of bullous pemphigoid associated with psoriasis vulgaris showing Hailey–Hailey disease‐like histopathological changes in regenerated epidermis without genomic mutation in ATP2C1 or ATP2A2 gene

Cited by 6 publications

References 10 publications

A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease

A novel splice‐site mutation in the ATP2C1 gene of a Chinese family with Hailey‐Hailey disease

The role of the ATP2C1 gene in Hailey–Hailey disease

Coexistence of autoimmune bullous diseases (AIBDs) and psoriasis: A series of 145 cases

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