A Case of Hailey-Hailey Disease with a Novel Nonsense Mutation in the ATP2C1 Gene
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چکیده
642 Ann Dermatol Received June 21, 2016, Accepted for publication September 9, 2016 Corresponding author: Nobuo Kanazawa, Department of Dermatology, Wakayama Medical University, Kimiidera 811-1, Wakayama 641-0012, Japan. Tel: 81-73-441-0661, Fax: 81-73-448-1908, E-mail: nkanazaw@ wakayama-med.ac.jp This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology sporium apiospermum Complex (Molecular type: Scedosporium apiospermum [Clade 4]) infection: a case report and literature review of cases from Japan. Med Mycol J 2015; 56:E25-E30. 3. Yoo JY, Song YB, Suh MK, Ha GY, Lee JI, Sohng SH. A case of localized skin infection due to Scedosporium apiospermum diagnosed by DNA sequencing of the internal transcribed spacer region. Korean J Med Mycol 2014;19:45-51. 4. Wang H, Wan Z, Li R, Lu Q, Yu J. Molecular identification and susceptibility of clinically relevant Scedosporium spp. in China. Biomed Res Int 2015;2015:109656. 5. Purkins L, Wood N, Kleinermans D, Greenhalgh K, Nichols D. Effect of food on the pharmacokinetics of multiple-dose oral voriconazole. Br J Clin Pharmacol 2003;56 Suppl 1: 17-23.
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Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population
BACKGROUND Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. The aim of this study was to identify variations in HHD and summarize the features of the mutations identified in China. MATERIAL AND METHODS We examined 2 familial and 2 sporadi...
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Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardat...
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Hailey-Hailey disease (HHD, MIM 16960) is an autosomal dominant disease characterized by suprabasal cell separation (acantholysis) of the epidermis. The clinical features vary and include crusted erosions with vesicular pustules, and erythematous scaly plaques at sites of friction and flexures. The skin lesions are often exacerbated by heat, sweating, mechanical trauma, infection and exposure i...
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Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the Chinese Biologi...
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