Reports—Medical Cases, Images, and Videos最新文献

Observations on Four Cases of Brooke–Spiegler Syndrome 布鲁克-斯皮格勒综合征4例观察

Reports—Medical Cases, Images, and Videos Pub Date : 2020-09-30 DOI: 10.3390/REPORTS3040028

M. Leventer, C. Coltoiu, Alexandra Zota, T. Tebeică, Carmen Lisievici, A. Martinescu

{"title":"Observations on Four Cases of Brooke–Spiegler Syndrome","authors":"M. Leventer, C. Coltoiu, Alexandra Zota, T. Tebeică, Carmen Lisievici, A. Martinescu","doi":"10.3390/REPORTS3040028","DOIUrl":"https://doi.org/10.3390/REPORTS3040028","url":null,"abstract":"Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117191917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Concurrent Hip Pain and Skull Lump as the First Manifestations of a Silent Follicular Thyroid Carcinoma 无症状的滤泡性甲状腺癌的首要表现是并发髋关节疼痛和颅骨肿块

Reports—Medical Cases, Images, and Videos Pub Date : 2020-09-23 DOI: 10.3390/REPORTS3040027

K. Setiaji, W. S. Avanti, H. Rinonce, S. Anwar

引用次数: 2

Examination of a Short-Term, Prognostic Predictive Method for Terminal Cancer Patients Using the Barthel Index Barthel指数对晚期癌症患者短期预后预测方法的探讨

Reports—Medical Cases, Images, and Videos Pub Date : 2020-09-22 DOI: 10.3390/REPORTS3030026

Masahiro Okada, Kazuko Okazaki, F. Murakami, S. Okamoto, Hiroki Sugihara, Kengo Banshoya, T. Onoda, Eisuke Takei, Shuso Takeda, N. Sugihara

引用次数: 1

Emergence of Natural Killer Cell Large Granular Lymphocytes during Gilteritinib Treatment in Acute Myeloid Leukemia with FLT3-ITD Mutation 吉特替尼治疗FLT3-ITD突变急性髓系白血病期间自然杀伤细胞大颗粒淋巴细胞的出现

Reports—Medical Cases, Images, and Videos Pub Date : 2020-09-17 DOI: 10.3390/REPORTS3030025

Shintaro Izumi, Y. Minami, S. Masuda, Y. Utsu, E. Sakaida, N. Aotsuka

{"title":"Emergence of Natural Killer Cell Large Granular Lymphocytes during Gilteritinib Treatment in Acute Myeloid Leukemia with FLT3-ITD Mutation","authors":"Shintaro Izumi, Y. Minami, S. Masuda, Y. Utsu, E. Sakaida, N. Aotsuka","doi":"10.3390/REPORTS3030025","DOIUrl":"https://doi.org/10.3390/REPORTS3030025","url":null,"abstract":"As the potent, selective Fms-Like Tyrosine Kinase 3 (FLT3) inhibitor gilteritinib has only been approved for use for a few years, its efficacy and complications remain incompletely understood. We herein report an elderly patient with FLT3 internal tandem duplications (FLT3-ITD) mutated acute myeloid leukemia (AML) who developed natural killer cell large granular lymphocytes (NK-LGL) in the bone marrow and peripheral blood during gilteritinib treatment. Case: A 79-year-old Japanese female had been diagnosed with FLT3-ITD-mutated AML. The patient received hydroxycarbamide 2000 mg daily for induction chemotherapy but did not achieve remission at day 28 postinduction. The treatment was then changed to gilteritinib 120 mg daily. Although the reduction of blasts in peripheral blood occurred immediately, it was revealed abnormal lymphocytes with large granules developed in bone marrow and peripheral blood. These lymphocytes were analyzed by flow cytometry, which revealed that these cells were NK-LGL because they expressed CD2, CD7, CD16, and CD56 and did not express CD3, CD19, and CD20. The patient achieved partial remission (PR) in a month with gilteritinib treatment. Leukemia eventually could not be controlled, but PR persisted for about 4 months and leukemia was controlled for 4 months after progression disease (PD) with gilteritinib treatment alone. Conclusion: Gilteritinib may induce the NK-LGL. The exact mechanism and effect of LGL in patients with FLT3 mutated AML treated with gilteritinib warrants further investigation.","PeriodicalId":383932,"journal":{"name":"Reports—Medical Cases, Images, and Videos","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131384237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0