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遗传性早发型大疱性表皮松解症一家系 2 例

Late onset Darier's disease in a genetically predisposed individual: a case report.

机构信息

Department of Dermatology, Venereology and Leprosy, Sree Balaji Medical College and Hospital, CLC Works Road, Chromepet, Chennai, Tamil Nadu 600044, India.

出版信息

Pan Afr Med J. 2022 Jul 15;42:208. doi: 10.11604/pamj.2022.42.208.32696. eCollection 2022.

Abstract

Keratosis follicularis also called as Darier's disease, is a rare autosomal dominant cutaneous disease. It is characterized by greasy keratotic sometimes crusted red to brown papules and plaques over seborrheic areas and in flexures with nail abnormalities. It is well established that the disease begins between the ages of 6 and 20 years, with a peak onset during puberty. The disease tends to manifest early, especially with the family history of the disease. Hereby, we report a case of Darier's disease with a special interest in its late onset presentation despite having significant family history of the disease, along with clinicopathological and dermoscopic features. We also highlight the use of non-invasive investigative technique of dermoscopy as a tool to diagnose the disease.

摘要

毛囊角化病,也称 Darier 病,是一种罕见的常染色体显性遗传性皮肤病。其特征为油腻性角化,有时为结痂性红色至棕色丘疹和斑块,见于皮脂溢出部位和皱褶处,同时伴有甲异常。该病发病年龄通常在 6 至 20 岁之间,青春期为发病高峰,已有明确报道。该病具有家族遗传倾向,尤其在有家族史的情况下,其发病年龄通常较早。本病例报告为一例 Darier 病,其特征为发病年龄晚,尽管有明显的家族史,但仍有临床病理和皮肤镜特征。我们还强调了使用非侵入性皮肤镜检查技术作为诊断该病的一种手段。

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