Darier's Disease

K. Deepika
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Abstract

A sparse inherited condition named Darier’s disease (DAR), which was initially identified by a famous French dermatologist, Jean Darier, is caused by the defect in the mutation of the ATPA2 gene. Darier’s disease is mainly represented by crusty dark patches over the skin, rarely with exudates, and it is otherwise termed as Darier’s white patches, keratosis follicularis, keratotic papules, or dyskeratotic follicularis. It is an autosomal disorder, and it is tested by genetic testing registry, skin biopsy, and by means of obtaining a familial history. Around 90% of the cases are treated by oral retinoids and topical application. Remaining cases need a surgical repair. The person affected with this disease may have chances of getting mood disorders.
毛囊角化病
一种名为达里尔病(DAR)的稀疏遗传性疾病,最初由法国著名皮肤科医生让·达里尔(Jean Darier)发现,是由ATPA2基因突变缺陷引起的。Darier病主要表现为皮肤上的硬壳性黑斑,很少有渗出物,也被称为Darier白斑、毛囊角化病、角化丘疹或角化不良毛囊。它是一种常染色体疾病,通过基因检测登记、皮肤活检和获得家族史来检测。大约90%的病例通过口服类维生素a和局部应用治疗。其余病例需要手术修复。患有这种疾病的人可能有机会患上情绪障碍。
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