伴有肌营养不良症 1 型的多发性滤泡混合瘤

IF 1.1 4区 医学 Q4 DERMATOLOGY American Journal of Dermatopathology Pub Date : 2024-11-01 Epub Date: 2024-06-20 DOI:10.1097/DAD.0000000000002784
Robin H Wang, Adam Krouse, David B Eilers, Madhu Dahiya
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引用次数: 0

摘要

摘要:卵泡混合囊肿是一种不常见的实体,由卵泡-皮面-副内分泌单元的两个或多个组成部分衍生而成。卵泡混合囊肿的发病机制尚不确定,但有人认为其源于卵泡干细胞的多能性。肌营养不良症1型是一种遗传性肌肉营养不良症,由肌营养不良症蛋白激酶基因中不稳定的三核苷酸重复扩增引起,主要与多发性皮柔瘤有关。我们报告了一例伴有肌营养不良症 1 型的多发性滤泡混合瘤新病例。我们怀疑,在肌营养不良症1型高突变表型的影响下,多能滤泡干细胞促成了患者多发性滤泡混合瘤的发病机制。
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Multiple Follicular Hybrid Tumors Presenting in Association With Myotonic Dystrophy Type 1.

Abstract: Follicular hybrid cysts are uncommon entities derived from 2 or more components of the folliculo-sebaceous-apocrine unit. The pathogenesis of follicular hybrid cysts is uncertain; however, they are proposed to derive from the multipotent nature of follicular stem cells. Myotonic dystrophy type 1 is an inherited muscular dystrophy caused by an unstable trinucleotide repeat expansion in the myotonic dystrophy protein kinase gene, notably associated with multiple pilomatricomas. We report a novel case of multiple follicular hybrid tumors presenting in association with myotonic dystrophy type 1. We suspect that multipotent follicular stem cells, under the influence of the hypermutability phenotype present in myotonic dystrophy type 1, contributed to the pathogenesis of multiple follicular hybrid tumors in our patient.

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来源期刊
CiteScore
1.80
自引率
9.10%
发文量
453
审稿时长
3 months
期刊介绍: The American Journal of Dermatopathology offers outstanding coverage of the latest diagnostic approaches and laboratory techniques, as well as insights into contemporary social, legal, and ethical concerns. Each issue features review articles on clinical, technical, and basic science advances and illuminating, detailed case reports. With the The American Journal of Dermatopathology you''ll be able to: -Incorporate step-by-step coverage of new or difficult-to-diagnose conditions from their earliest histopathologic signs to confirmatory immunohistochemical and molecular studies. -Apply the latest basic science findings and clinical approaches to your work right away. -Tap into the skills and expertise of your peers and colleagues the world over peer-reviewed original articles, "Extraordinary cases reports", coverage of practical guidelines, and graphic presentations. -Expand your horizons through the Journal''s idea-generating forum for debating controversial issues and learning from preeminent researchers and clinicians
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