Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon

Translated title of the contribution: The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease) in Hungary

Réka Szigeti, Sheau Chiou Chao, Dalma Várszegi, Márta Czakó, György Kosztolányi, Richárd Kellermayer

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Abstract

Hailey-Hailey disease, or chronic benign pemphigus (MIM# 169600), is a genodermatosis arising in adult age with recurrent vesicles and erosions primarily in the flexural areas. It is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease. More than 82 different ATP2C1 mutations have been described up to date. In this study, a case of Hailey-Hailey disease is presented where a nucleotide change (1402C > T) in the decoding region of ATP2C1 resulted in a premature stop mutation (R468X). This defect has been reported earlier in a patient of European descent. A brief molecular genetic review of the disorder is also given.

Original languageHungarian
Pages (from-to)1933-1935
Number of pages3
JournalOrvosi Hetilap
Volume146
Issue number37
Publication statusPublished - 2005 Dec 1

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All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Szigeti, R., Chao, S. C., Várszegi, D., Czakó, M., Kosztolányi, G., & Kellermayer, R. (2005). Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon. Orvosi Hetilap, 146(37), 1933-1935.