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非综合征性遗传性鱼鳞病的治疗,包括新兴的发病机制相关疗法。

Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.

作者信息

Hasbani Divina Justina, Hamie Lamiaa, Eid Edward, Tamer Christel, Abbas Ossama, Kurban Mazen

机构信息

Department of Dermatology, American University of Beirut Medical Center, Riad El Solh/Beirut 1107 2020, P.O. Box 11-0236, Beirut, Lebanon.

Department of Dermatology, Division of Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI, USA.

出版信息

Am J Clin Dermatol. 2022 Nov;23(6):853-867. doi: 10.1007/s40257-022-00718-8. Epub 2022 Aug 12.

Abstract

The term 'inherited ichthyosis' refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment options proposed in the literature include moisturizers, topical keratolytics, topical and systemic vitamin D analogues, and topical and systemic retinoids; however, some of these modalities are less reliable than others. Despite the therapeutic impasse imposed by the options above, the emergence of pathogenesis-based treatments along with novel gene therapies appear promising and hold the potential to halt or even revert disorders that arise from single genetic mutations, although research is still quite lacking in this domain. Hence, this review aims to highlight the various treatment modalities available for the management of the cutaneous manifestations of non-syndromic inherited ichthyosis, with an added emphasis on pathogenesis-targeted therapies.

摘要

“遗传性鱼鳞病”一词指的是一组异质性的孟德尔式角化障碍疾病,这些疾病累及皮肤,伴有不同程度的鳞屑。鱼鳞病的管理对大多数医生来说是一项挑战。文献中提出的治疗选择包括保湿剂、外用角质剥脱剂、外用和系统性维生素D类似物以及外用和系统性维甲酸;然而,其中一些治疗方式的可靠性不如其他方式。尽管上述治疗选择存在治疗困境,但基于发病机制的治疗方法以及新型基因疗法的出现似乎很有前景,有可能阻止甚至逆转由单一基因突变引起的疾病,尽管该领域的研究仍然相当匮乏。因此,本综述旨在强调可用于治疗非综合征性遗传性鱼鳞病皮肤表现的各种治疗方式,并特别强调针对发病机制的疗法。

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