Pediatric Dermatology最新文献_第4页

Immunoglobulin A vasculitis with periorbital edema and severe renal involvement: A case report. 免疫球蛋白 A 血管炎伴眶周水肿和严重肾脏受累：病例报告。

IF 1.2 4区医学

Pediatric Dermatology Pub Date : 2024-08-21 DOI: 10.1111/pde.15726

Le Wen Chiu, Basema I Dibas, Patrick D Walker, Aimee C Smidt, Nikifor K Konstantinov

引用次数: 0

Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature. 伴有萎缩、溃疡和瘢痕的节段性先天性血管异常（SeCVAUS）：病例系列和文献综述。

IF 1.2 4区医学

Pediatric Dermatology Pub Date : 2024-08-19 DOI: 10.1111/pde.15724

Marta Ivars, Ilona J Frieden, Lauren Provini, Michel Wassef, Lisa Weibel, Martin Theiler, Agustina Lanoel, Victor Martinez-Glez, Lara Rodriguez-Laguna, Carine van der Vleuten, Laurent Guibaud, Katherine Puttgen, Jose Manuel Azaña-Defez, Sarah Chamlin, Beth Drolet, Natalia Torres, Dariusz Wyrzykowsky, Isabel Colmenero, Juan Carlos Lopez-Gutierrez

{"title":"Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature.","authors":"Marta Ivars, Ilona J Frieden, Lauren Provini, Michel Wassef, Lisa Weibel, Martin Theiler, Agustina Lanoel, Victor Martinez-Glez, Lara Rodriguez-Laguna, Carine van der Vleuten, Laurent Guibaud, Katherine Puttgen, Jose Manuel Azaña-Defez, Sarah Chamlin, Beth Drolet, Natalia Torres, Dariusz Wyrzykowsky, Isabel Colmenero, Juan Carlos Lopez-Gutierrez","doi":"10.1111/pde.15724","DOIUrl":"https://doi.org/10.1111/pde.15724","url":null,"abstract":"Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described.Objective: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring.Methods: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases.Results: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209.Conclusions: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A 9-month-old female with sudden onset of a non-tender, edematous scaly plaque. 一名 9 个月大的女性，突然出现无触痛的水肿性鳞屑斑。

IF 1.2 4区医学

Pediatric Dermatology Pub Date : 2024-08-18 DOI: 10.1111/pde.15722

Cassidy M Nguyen, Courtney N Haller, Moise L Levy

引用次数: 0

An unusual linear plaque in a child along with nail dystrophy. 一名儿童身上出现异常的线状斑块，并伴有甲营养不良症。

IF 1.2 4区医学

Pediatric Dermatology Pub Date : 2024-08-15 DOI: 10.1111/pde.15732

Divya Garg, Anubha Dev, Apoorva Sharma, Debajyoti Chatterjee, Tarun Narang

引用次数: 0

A rare cutaneous infection with Mycobacterium chelonae in a pediatric patient treated with trametinib for KRAS-mutated diffuse glioma. 一名接受曲美替尼治疗KRAS突变弥漫性胶质瘤的儿童患者罕见地感染了克氏分枝杆菌。