hypomelanosis

黑色素减少症
  • 文章类型: Journal Article
    白癜风是由自身免疫反应引起的慢性皮肤病,导致黑素细胞的进行性丧失,最近的研究表明,Janus激酶抑制剂(JAKi)正在成为一种有前途的新治疗方式。因此,评估和了解JAKI在白癜风中使用的新兴领域的知识程度,对文献进行了范围审查。审查的文章探讨了各种JAKI口服或局部给药白癜风。没有研究可注射的JAKI。Tofacitinib是在选择进行审查的35项研究中的16项研究中最常用的口服JAKI。其次是巴利替尼(n=3),每个研究都使用了利替尼,鲁索替尼,和upadacitinib.Ruxolitinib(n=6)和tofacitinib(n=6)是最常研究的局部JAKI,其次是德戈西替尼(n=1)。根据JAKi的受体选择性谱和共存的自身免疫性疾病,它们之间的潜在益处可能有所不同。局部JAKI在有限的身体区域参与和青少年中是有利的。同时使用JAKI与光疗或阳光照射似乎是有益的。大多数研究允许使用其他局部药物。痤疮相关事件,虽然频繁但温和,据报道,口服和外用JAKI。鼻咽炎,上呼吸道感染,头痛是在使用JAKI的大型试验中最常见的不良反应.未检测到严重或有临床意义的血液学或血栓栓塞事件。口服或外用JAKI治疗白癜风似乎很有希望,越来越多的证据显示出有利的风险-收益特征。
    Vitiligo is a chronic skin condition caused by an autoimmune response that results in the progressive loss of melanocytes and recent studies have suggested that Janus kinase inhibitors (JAKi) are emerging as a promising new treatment modality. Therefore, to assess and understand the extent of knowledge in the emerging field of JAKi use in vitiligo, a scoping review of the literature was undertaken. The reviewed articles explored a wide variety of JAKi administered either orally or topically for vitiligo. There were no injectable JAKi studied. Tofacitinib was the most commonly studied oral JAKi in 16 of the 35 studies selected for review, followed by baricitinib (n = 3), and one study each with ritlecitinib, ruxolitinib, and upadacitinib. Ruxolitinib (n = 6) and tofacitinib (n = 6) were the most often studied topical JAKi, followed by delgocitinib (n = 1). Potential benefits may vary between JAKi based on their receptor selectivity profile and coexistent autoimmune diseases. A topical JAKi would be advantageous in limited body area involvement and in adolescents. Concurrent use of JAKi with phototherapy or sun exposure appears beneficial. Most studies permitted the use of other topical agents. Acne-related events, though frequent yet mild, were reported with both oral and topical JAKi. Nasopharyngitis, upper respiratory tract infections, and headaches were the most common adverse effects seen in the larger trials with JAKi. No serious or clinically meaningful hematology or thromboembolic events were detected. Treatment of vitiligo with oral or topical JAKi seems to be promising and the growing evidence shows a favorable risk-benefit profile.
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  • 文章类型: Journal Article
    用四氟乙烷喷雾冷冻麻醉后,切开了一名年轻黑人女性患者的浅表皮肤脓肿。在第一次随访时,在治疗的皮肤区域发现了色素沉着不足的区域;在接下来的4个月中发生了完全的色素沉着。文献中没有其他类似病例报道。因为用四氟乙烷冷冻麻醉后可能会发生持续时间长并且可能是永久性的色素沉着不足,尤其是黑人,这种技术应该非常谨慎地使用。
    A superficial skin abscess in a young black female patient was incised after cryoanesthesia with tetrafluoroethane spray. A hypopigmented area was found at the first follow-up visit in the treated skin area; complete repigmentation occurred during the next 4 months. There are no other similar reported cases in the literature. Since long duration and possibly permanent hypopigmentation can occur after cryoanesthesia with tetrafluoroethane, especially in black people, this technique should be used with extreme caution.
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  • 文章类型: Journal Article
    黑色素生成是黑色素和黑素小体生物合成的生物和生化过程。黑色素是由酪氨酸酶家族蛋白的酶促反应形成的,这些蛋白将酪氨酸转化为黑素细胞黑色素和黄红色pheomelanin,跟随一系列事件与一系列自分泌和旁分泌信号相互作用。将完全黑化的黑色素体递送至皮肤和毛发的角质形成细胞。黑素细胞和相关的角质形成细胞池的共生关系称为表皮黑色素单位(EMU)。小眼症相关转录因子(MITF)在黑素细胞的发育和分化中起着至关重要的作用。MITF调节许多色素沉着基因的表达以促进黑素细胞分化,以及维持细胞稳态的基本基因。涉及EMU改变的疾病显示各种形式的色素沉着表型。这篇综述介绍了黑素生成级联的四个主要主题,包括(1)黑素细胞的发育和分化,(2)黑素生成和细胞内运输的黑素体生物合成,(3)黑色素色素沉着和色素类型转换,和(4)通过阐明黑素生成级联,开发了一种新的恶性黑色素瘤治疗方法。
    Melanogenesis is the biological and biochemical process of melanin and melanosome biosynthesis. Melanin is formed by enzymic reactions of tyrosinase family proteins that convert tyrosine to form brown-black eumelanin and yellow-red pheomelanin within melanosomal compartments in melanocytes, following the cascades of events interacting with a series of autocrine and paracrine signals. Fully melanized melanosomes are delivered to keratinocytes of the skin and hair. The symbiotic relation of a melanocyte and an associated pool of keratinocytes is called epidermal melanin unit (EMU). Microphthalmia-associated transcription factor (MITF) plays a vital role in melanocyte development and differentiation. MITF regulates expression of numerous pigmentation genes for promoting melanocyte differentiation, as well as fundamental genes for maintaining cell homeostasis. Diseases involving alterations of EMU show various forms of pigmentation phenotypes. This review introduces four major topics of melanogenesis cascade that include (1) melanocyte development and differentiation, (2) melanogenesis and intracellular trafficking for melanosome biosynthesis, (3) melanin pigmentation and pigment-type switching, and (4) development of a novel therapeutic approach for malignant melanoma by elucidation of melanogenesis cascade.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    黑素细胞的发育是由复杂的相互关联的基因调控网络和协同相互作用协调的。Piebaldism和Waardenburg综合征是由参与该复杂网络的基因突变引起的神经病理学。我们对黑素细胞发育的理解,Piebaldism,Waardenburg综合征在过去的十年中得到了显着改善。Waardenburg综合征的诊断和分型,1992年首次提出,基于表型,在过去的三十年里,已经扩大到包括基因型。这篇综述的重点是目前对人类黑素细胞发育的理解以及Piebalism和Waardenburg综合征的评估和管理。管理通常具有挑战性,需要采用多学科方法。
    Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    皮肤色素沉着症是儿童时期经常遇到的问题,完全无辜或代表多系统疾病的第一个迹象。病史,临床检查,伍德的光调查,皮肤的组织学分析和多学科咨询可以有助于正确和早期诊断不同类型的色素减退。在本论文中,我们提出了一种系统的临床方法来鉴别诊断这些皮肤病。
    Hypomelanosis of the skin is a frequently encountered problem in childhood, being totally innocent or representing the first sign of a multisystem disorder. Medical history, clinical examination, Wood\'s light investigation, histological analysis of the skin and a multidisciplinary consultation can contribute to a correct and early diagnosis of the different types of hypopigmentations. In the present paper, we present a systematic clinical approach to the differential diagnosis of those skin disorders.
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    文章类型: Journal Article
    A twelve year old female child presented with learning disability. Detailed physical examination revealed anomalies involving the nervous and musculoskeletal system. In addition she had linear and whorled. hypopigmented lesions along the lines of Blaschko distributed over the upper limb, trunk and face on the left side of the body. She fulfilled the diagnostic criteria for Hypomelanosis of Ito, even in the absence of chromosomal studies and advanced histopathological studies.
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