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点状鱼鳞病:一种罕见的诊断及治疗方案

Ichthyosis with confetti: a rare diagnosis and treatment plan.

作者信息

Long Myra C

机构信息

Department of Family Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

出版信息

BMJ Case Rep. 2014 Jul 10;2014:bcr2014204509. doi: 10.1136/bcr-2014-204509.

Abstract

Congenital ichthyosis includes a group of rare skin disorders known for tiles of hyperkeratotic skin resembling fish scales. With age, the hyperkeratosis generally becomes more concentrated around joints which increases impairment. Ichthyosis with confetti, also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma, is an extremely rare form of ichthyosis. It usually begins as non-bullous congenital ichthyosiform erythroderma with the expected scaling. However, with time patients develop widespread 'confetti-like' patches of healthy skin. The healthy skin reflects clonal expansion of 'normal' or reverted cells. Cell reversion has potential for future therapies using revertant stem cells. Controlling symptoms with emollients is the goal of treatment for ichthyosis since it has no cure.

摘要

先天性鱼鳞病包括一组罕见的皮肤疾病,其特征是皮肤角质化过度,形成类似鱼鳞的片状。随着年龄增长,角化过度通常会在关节周围更加集中,从而加重功能障碍。点状鱼鳞病,也称为杂色鱼鳞病或先天性网状鱼鳞病样红皮病,是一种极其罕见的鱼鳞病形式。它通常始于非大疱性先天性鱼鳞病样红皮病,并伴有预期的鳞屑。然而,随着时间的推移,患者会出现广泛的“点状”健康皮肤斑块。这些健康皮肤反映了 “正常” 或回复细胞的克隆性扩增。细胞回复为使用回复性干细胞的未来治疗提供了可能性。由于鱼鳞病无法治愈,使用润肤剂控制症状是其治疗目标。

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本文引用的文献

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Ichthyotic skin disorders in the neonate.新生儿鱼鳞病性皮肤疾病。
Clin Pediatr (Phila). 2012 Aug;51(8):796-800. doi: 10.1177/0009922811430348. Epub 2012 Apr 22.
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