John Libbey Eurotext

European Journal of Dermatology

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Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation Article à paraître

Illustrations

  • Figure 1
Auteurs
1 Department of Dermatology, Nagoya University Graduate School of Medicine,
2 Department of Dermatology, Japan Community Health Care Organization Chukyo Hospital,
3 Department of Gastroenterological Medicine, Japan Community Health Care Organization Chukyo Hospital,
4 Department of Genetics, Research Institute of Environmental Medicine, Nagoya University,
5 Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan

Hailey-Hailey disease (HHD) is an autosomal dominant disease characterized by acantholysis and is caused by ATP2C1 mutations[1]. Here, we report the first case of HHD with an oesophageal lesion in which the diagnosis was confirmed by gene analysis.A 79-year-old Japanese male had had repetitive erosions in the groin since his late twenties (figure 1A). The erosions had exacerbated every summer. His son also had similar skin lesions. A lesion on the groin revealed acantholysis and dyskeratosis in the [...]