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毛囊角化病与癫痫共病:一例儿科病例报告及文献综述

Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.

作者信息

Celik Tamer, Celik Umit, Donmezer Cigdem, Komur Mustafa, Tolunay Orkun, Demirtürk Pelin

机构信息

Pediatric Neurology, Adana Numune Research and Training Hospital, Adana, Turkey.

Pediatrics, Adana Numune Research and Training Hospital, Adana, Turkey.

出版信息

Case Rep Pediatr. 2014;2014:831398. doi: 10.1155/2014/831398. Epub 2014 Sep 1.

DOI:10.1155/2014/831398
PMID:25258690
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4166657/
Abstract

Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier's disease and epilepsy. We also revised current English literature on this topic.

摘要

毛囊角化病是一种皮肤疾病,其特征为在脂溢性区域出现多发性角化过度或结痂丘疹,并伴有组织学上的棘层松解和角化不良。它由单个基因突变引起,该基因是ATP2A2,在皮肤和大脑中表达。文献中经常报道毛囊角化病与各种神经和精神疾病同时发生。这些疾病包括情绪障碍、癫痫、脑病和精神分裂症。在本研究中,我们报告了一例同时患有毛囊角化病和癫痫的儿科病例。我们还查阅了关于该主题的当前英文文献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e001/4166657/6029f11b375e/CRIPE2014-831398.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e001/4166657/5a083b7a04dc/CRIPE2014-831398.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e001/4166657/6029f11b375e/CRIPE2014-831398.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e001/4166657/5a083b7a04dc/CRIPE2014-831398.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e001/4166657/6029f11b375e/CRIPE2014-831398.002.jpg

相似文献

1
Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature.毛囊角化病与癫痫共病:一例儿科病例报告及文献综述
Case Rep Pediatr. 2014;2014:831398. doi: 10.1155/2014/831398. Epub 2014 Sep 1.
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本文引用的文献

1
Darier disease : a disease model of impaired calcium homeostasis in the skin.毛囊角化病:皮肤钙稳态受损的疾病模型。
Biochim Biophys Acta. 2011 May;1813(5):1111-7. doi: 10.1016/j.bbamcr.2010.12.006. Epub 2010 Dec 15.
2
The neuropsychiatric phenotype in Darier disease.Darier 病的神经精神表型。
Br J Dermatol. 2010 Sep;163(3):515-22. doi: 10.1111/j.1365-2133.2010.09834.x. Epub 2010 Apr 29.
3
Clinical and mutational heterogeneity of Darier disease in Tunisian families.突尼斯家族中 Darier 病的临床和突变异质性
Arch Dermatol. 2009 Jun;145(6):654-6. doi: 10.1001/archdermatol.2009.52.
4
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.钙泵与角质形成细胞:来自 Darier 病和 Hailey-Hailey 病的启示
Br J Dermatol. 2004 May;150(5):821-8. doi: 10.1111/j.1365-2133.2004.05904.x.
5
DARIER'S DISEASE WITH EPILEPSY.伴有癫痫的达里埃病
Nurs Times. 1964 Apr 3;60:449-50.
6
The prevalence of dyskeratosis follicularis (Darier's disease) in Denmark: an investigation of the heredity in 22 families.丹麦毛囊角化病(达里埃病)的患病率:对22个家庭的遗传情况调查
Acta Derm Venereol. 1959;39:256-69.
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WOLOSHIN AA: Darier's disease. An evaluation of its neuropsychiatric component.
Arch Dermatol. 1961 Sep;84:482-4. doi: 10.1001/archderm.1961.01580150128021.
8
Darier's disease associated with bipolar affective disorder: a case report.毛囊角化病伴双相情感障碍:一例报告
Kaohsiung J Med Sci. 2002 Dec;18(12):622-6.
9
Evidence for familial cosegregation of major affective disorder and genetic markers flanking the gene for Darier's disease.重度情感障碍与毛囊角化病基因侧翼遗传标记的家族共分离证据。
Mol Psychiatry. 2002;7(4):424-7. doi: 10.1038/sj.mp.4000989.
10
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.毛囊角化病——ATP2A2基因的新突变及基因型与表型的相关性
Exp Dermatol. 2001 Feb;10(1):19-27. doi: 10.1034/j.1600-0625.2001.100103.x.