- 期刊
Darier's Disease Associated with Bipolar Affective Disorder: A Case Report
Darier 氏症合併雙極情感性精神病－病例報告
摘要
Darier氏症又名毛囊角化症，是一種罕見的顯性基因遺傳疾病，亦可能也會因突變而偶發出現。典型的臨床表徵為皮脂漏區域出現過度角化與脫屑般的丘疹，病理上則可見皮膚棘層鬆解與角化不全。近幾年對此疾病之研究的一大突破是，將其基因突變位置定位於第12對染色體長臂23到24.1的區域。 臨床研究報導過Darier氏症，有的會同時合併不同的精神及神經性的症狀，如情感性疾病、癲癇、弱智、甚至精神分裂症。曾有多篇關於精神病基因體研究，嘗試找出Darier氏症與精神疾病基因位置的相關性，而更有研究指出雙極情感性精神病可能的基因位置即與Darier氏症同樣位於第12對染色體上。 本文中報告一位具有40年以上典型Darier氏症病史同時合併有30年第一型雙極情感性精神病病史的52歲男性，並回顧及比較過去有關的文獻。
並列摘要
Darier's disease, also known as keratosis follicularis, is an uncommon autosomal dominant disorder that may also occur as a sporadic mutation. It is characterized by multiple eruptions of hyperkeratotic or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It usually begins in the first or second decade of life and is equally prevalent in men and women. Darier's disease is caused by mutations in the ATP2A2 gene, which maps to chromosome 12q23-q24.1 and encodes the sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA2). The co-occurrence of various neurologic and psychiatric diseases with Darier's disease has been reported, including mood disorders, epilepsy, mental retardation, slowly progressive encephalopathy, and schizophrenia. Linkage studies using the association between these disorders and Darier's disease to determine the gene locus of these psychiatric disorders inferred the presence of a bipolar susceptibility gene on chromosome 12q23-q24.1 in the region of the Darier's disease gene (DAR). We report a case of Darier's disease of more than 40 years' duration and bipolar I disorder of 30 years' duration in a 52-year-old man, and provide a brief review of the literature.
延伸閱讀
- 趙建剛、張開賢（2007）。人類免疫缺乏病毒感染合併精神症狀：一個案報告。台灣性學學刊，13(2)，83-91。https://www.airitilibrary.com/Article/Detail?DocID=16085787-200709-13-2-83-91-a
- 吳恩亮、張正辰、邱南英（2003）。性別認同障礙合併愛滋病病毒感染、梅毒感染以急性精神病症狀表現：個例報告。The Changhua Journal of Medicine，8(1)，50-54。https://www.airitilibrary.com/Article/Detail?DocID=16801504-200301-8-1-50-54-a
- Huang, C. Y., Lin, Y. F., Diang, L. K., Gao, G. W., & Chang, J. Y. (1995). Imerslund-Grasbeck症候群合併皮膚異化症：病例報告. Journal of Medical Sciences, 15(6), 457-462. https://www.airitilibrary.com/Article/Detail?DocID=10114564-199506-201306250002-201306250002-457-462
- 郭仁富、杜思德（2006）。葛瑞夫茲氏病合併透納氏症：病例報告和文獻回顧。中華民國內分泌暨糖尿病學會會刊，19(3)，21-32。https://doi.org/10.7101/ED.200604.0021
- 鄭靜明、張耿嘉、林燕卿（2018）。精神疾患合併性功能障礙：文獻回顧報告。性學研究，8(2)，95-107。https://doi.org/10.6206/SIS.2018.0802.04