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眼皮肤白化病与精神分裂症的共存

The Coexistence of Oculocutaneous Albinism with Schizophrenia.

作者信息

Tsai Alicia L, Agustines Davin

机构信息

Psychology, Claremont McKenna College, Claremont, USA.

Psychiatry, Olive View-University of California Los Angeles Medical Center, Los Angeles, USA.

出版信息

Cureus. 2020 Jan 9;12(1):e6617. doi: 10.7759/cureus.6617.

DOI:10.7759/cureus.6617
PMID:32064197
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7008756/
Abstract

Oculocutaneous albinism (OCA) is an extremely rare skin disorder which occurs in 0.005% of the world population, whereas schizophrenia is a rare mental illness which affects 1% of the world population. Researchers have spent much time searching for the causes of schizophrenia, as they are still largely unknown. It was previously hypothesized that schizophrenia could be caused by a defect in melatonin metabolism, leading to increased melanin production and the production of hallucinogenic agent. However, this implies that albinos would be protected against schizophrenia (since they have little to no melanin production), and although rare, there have been several case reports of albinos with schizophrenia, refuting this hypothesis. Following their discovery of schizophrenic albinos, several researchers have instead wondered whether schizophrenia and albinism could actually be genetically linked. To further this discussion, we present a case report of a 25-year-old African-American male with OCA2 and schizophrenia. He was hospitalized after his mother discovered the existence of a BB that was lodged in his forehead from a failed suicide attempt in response to command auditory hallucinations. The BB was removed during his hospitalization, and he was psychiatrically stabilized on a combination of risperidone, lithium, and escitalopram.

摘要

眼皮肤白化病(OCA)是一种极其罕见的皮肤病,全球发病率为0.005%,而精神分裂症是一种罕见的精神疾病,全球发病率为1%。研究人员花了大量时间寻找精神分裂症的病因,因为这些病因在很大程度上仍然未知。以前有人假设精神分裂症可能是由褪黑素代谢缺陷引起的,导致黑色素生成增加和致幻剂产生。然而,这意味着白化病患者可以免受精神分裂症的影响(因为他们几乎不产生黑色素),尽管很罕见,但已有几例白化病患者患精神分裂症的病例报告,驳斥了这一假设。在发现患有精神分裂症的白化病患者后,几位研究人员转而思考精神分裂症和白化病是否实际上存在基因联系。为了进一步探讨这个问题,我们报告一例患有OCA2和精神分裂症的25岁非裔美国男性病例。他因母亲发现他因命令性幻听而自杀未遂后额头嵌入一颗子弹而住院。住院期间取出了子弹,他通过服用利培酮、锂盐和艾司西酞普兰联合用药使精神状态稳定下来。

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The Coexistence of Oculocutaneous Albinism with Schizophrenia.眼皮肤白化病与精神分裂症的共存
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2
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Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).白化病,或挪亚之书综合征(《以诺书》第一章至第二十章)
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Cutaneous malignancy in albinism.白化病中的皮肤恶性肿瘤。
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本文引用的文献

1
New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings.精神分裂症遗传学的新发现揭示了神经生物学途径:近期研究结果综述。
Eur J Med Genet. 2015 Dec;58(12):704-14. doi: 10.1016/j.ejmg.2015.10.008. Epub 2015 Oct 19.
2
Psychiatric Morbidity among Subjects with Leprosy and Albinism in South East Nigeria: A Comparative Study.尼日利亚东南部麻风病和白化病患者的精神疾病发病率:一项比较研究。
Ann Med Health Sci Res. 2015 May-Jun;5(3):197-204. doi: 10.4103/2141-9248.157503.
3
Genetics of schizophrenia.精神分裂症的遗传学
Curr Psychiatry Rep. 2014 Nov;16(11):502. doi: 10.1007/s11920-014-0502-8.
4
Identification of genes from a schizophrenia-linked translocation breakpoint region.从与精神分裂症相关的易位断点区域鉴定基因。
Genomics. 2001 Apr 1;73(1):123-6. doi: 10.1006/geno.2001.6516.
5
A YAC contig encompassing the 11q14.3 breakpoint of a translocation associated with schizophrenia, and including the tyrosinase gene.
Mamm Genome. 1999 Jun;10(6):649-52. doi: 10.1007/s003359901064.
6
Molecular genetics of oculocutaneous albinism.眼皮肤白化病的分子遗传学
Hum Mol Genet. 1994;3 Spec No:1469-75. doi: 10.1093/hmg/3.suppl_1.1469.
7
Schizophrenia-melanosis: cause or side-effect?
Lancet. 1965 Dec 4;2(7423):1165-7. doi: 10.1016/s0140-6736(65)92564-x.
8
Oculocutaneous albinism and schizophrenia.
Biol Psychiatry. 1986 Jul;21(8-9):830-3. doi: 10.1016/0006-3223(86)90247-7.
9
Oculocutaneous albinism and schizophrenia-like psychosis.
J Nerv Ment Dis. 1989 Feb;177(2):112. doi: 10.1097/00005053-198902000-00009.
10
Psychological aspects of albinism: an exploratory study with Nigerian (Igbo) albino subjects.
Soc Sci Med. 1989;29(9):1129-31. doi: 10.1016/0277-9536(89)90026-9.