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Dowling-Degos 病:综述。

Dowling-Degos disease: a review.

机构信息

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

出版信息

Int J Dermatol. 2021 Aug;60(8):944-950. doi: 10.1111/ijd.15385. Epub 2020 Dec 23.

Abstract

Dowling-Degos disease is a rare autosomal dominant genodermatosis. It is characterized by acquired reticulate hyperpigmentation over the flexures, comedone-like follicular papules, and pitted perioral scars that usually develop during adulthood. Mutations in genes affecting melanosome transfer, and melanocyte and keratinocyte differentiation have been implicated in the pathogenesis of this disease. These genes include KRT5, POFUT1, POGLUT1 and, most recently, PSENEN. Dowling-Degos disease can be found in isolation or with other associated findings, most notably hidradenitis suppurativa. This condition belongs to a spectrum of conditions that all result in reticulate hyperpigmentation that at times are hard to distinguish from each other. The most closely linked entity is Galli-Galli, which is clinically indistinguishable from Dowling-Degos disease and can only be distinguished by the presence of acantholysis on microscopy. Unfortunately, Dowling-Degos disease is generally progressive and recalcitrant to treatment.

摘要

Dowling-Degos 病是一种罕见的常染色体显性遗传皮肤病。其特征为屈侧出现获得性网状色素沉着、似粉刺样的毛囊丘疹、口周凹陷性瘢痕,这些皮损通常在成年期出现。影响黑素小体转运、黑素细胞和角质形成细胞分化的基因突变与该病的发病机制有关。这些基因包括 KRT5、POFUT1、POGLUT1 和最近的 PSENEN。Dowling-Degos 病可孤立存在或伴有其他相关表现,最常见的是化脓性汗腺炎。这种情况属于一系列疾病谱,所有这些疾病都会导致网状色素沉着,有时很难相互区分。与 Dowling-Degos 病关系最密切的是 Galli-Galli,它在临床上与 Dowling-Degos 病无法区分,只能通过显微镜下存在棘层松解来区分。不幸的是,Dowling-Degos 病通常呈进行性发展,且对治疗有抗性。

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