Muir–Torre syndrome

  • 文章类型: Journal Article
    背景:非黑素细胞性良性皮肤肿瘤包括一组不同的病变,根据它们的细胞起源分类,如表皮,血管,纤维状,神经,肌肉,和附件肿瘤.尽管它们经常显示孤立性病变,多发性皮肤肿瘤集中于遗传性皮肤病。每个综合征都表现出不同的临床特征和潜在的并发症。包括皮肤和皮肤外恶性肿瘤,其中一些可能危及生命。诊断遗传综合征是复杂的,需要许多组织病理学和免疫组织化学测试,因为病理学上附件肿瘤和基底细胞癌之间存在相似性。方法:阐述临床实践,我们进行了一项回顾性病例研究,纳入了2018年9月至2024年4月转诊至三级皮肤科诊所的11例遗传性皮肤病患者.我们还对这种情况下可用的治疗方式进行了研究。结果:使用最近批准的FDA血浆装置治疗了5例具有出色美学效果的患者。搜索SCOPUS和PubMed数据库记录后,我们评估了96篇原创文章,以介绍有关皮外科方法的最新知识.结论:多发性皮肤肿瘤,尤其是在脸上,可能会显著影响患者的生活质量并产生心理后果。应根据患者的需要提供适当的治疗选择。对于遗传性皮肤病中的多发性良性肿瘤,没有标准化的治疗方法,并且采用具有不同功效的选定方法。我们介绍了在这些设置中新型等离子体设备的实用性。
    Background: Non-melanocytic benign skin tumours encompass a diverse group of lesions, classified based on their cellular origin, such as epidermal, vascular, fibrous, neural, muscle, and adnexal tumours. Though they often reveal solitary lesions, multiple skin tumours focus on genodermatoses. Each syndrome exhibits distinct clinical characteristics and potential complications, including cutaneous and extra-cutaneous malignancies, some of which are potentially life-threatening. Diagnosing genetic syndromes is complex and requires numerous histopathological and immunohistochemistry tests due to similarities between the adnexal tumours and basal cell carcinoma upon pathology. Methods: To illustrate the clinical practice, we conducted a retrospective case study that included eleven patients with genodermatoses referred to a tertiary dermatology clinic from September 2018 to April 2024. We have also conducted a research study on available treatment modalities in this setting. Results: Five patients with excellent aesthetic results were treated using a recently approved FDA plasma device. After searching SCOPUS and PubMed database records, we assessed 96 original articles to present current knowledge regarding the dermato-surgical approach. Conclusions: Multiple skin tumours, especially on the face, may significantly affect patients\' quality of life and have psychological consequences. An appropriate treatment selection tailored to the patient\'s needs should be provided. There is no standardised treatment for multiple benign tumours in genodermatoses, and selected methods with varying efficacy are employed. We presented the utility of a new plasma device in these settings.
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  • 文章类型: Case Reports
    角化棘皮瘤(KA)是一种快速生长的皮肤肿瘤亚型,在罕见的遗传综合征中可以观察到孤立性病变或很少观察到多发性病变。多发性角化棘皮瘤样病变的综合征已被记录为多发性自愈鳞状上皮瘤(Ferguson-Smith综合征),Grzybowski爆发性角化棘皮瘤,Witten和ZakMuir-Torre综合征的多发性家族性角化棘皮瘤,和色素性不连续症。由于许多病变,这些实体的治疗方法具有挑战性,病变的性质不明确,以及其他恶性皮肤肿瘤的共存。在这里,我们报道了一例40岁女性患者,该患者发展为多重治疗耐药的Ferguson-Smith样角化棘皮瘤,头皮上同时存在大型和溃疡性浸润性鳞状细胞癌和微囊附件癌.用口服阿维酮(0.5mg/kg/天)与局部氟尿嘧啶(5-FU)5%联合成功治疗了四肢多发性角化棘皮瘤,同时进行切除和整形手术修复以治疗头皮上的溃疡性癌症病变。由于这种罕见综合征的有趣性质,我们进行了文献综述,包括多KA样病变综合征的病例报告和病例系列,重点是诊断和治疗方法.我们还对患者报告进行了比较,其中包括评估病变的临床表现,并评估已实施的各种治疗方法的成功和进展或失败。
    Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson-Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir-Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions\' undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson-Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented.
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  • 文章类型: Journal Article
    背景:Muir-Torre综合征是错配修复基因的常染色体显性突变,随着时间的推移会引起皮脂腺肿瘤和内脏恶性肿瘤。因为结直肠癌和泌尿生殖系统癌症在Muir-Torre综合征中很常见,十二指肠癌的诊断常常延迟。
    方法:一名58岁女性出现严重消瘦,厌食症,和上腹痛。她有直肠癌病史,升结肠癌,和右肩皮脂腺癌.上消化道内镜和计算机断层扫描检查提示肠系膜上动脉综合征引起的十二指肠梗阻,导致长期观察。七个月后,她最终被诊断为第三部分十二指肠癌。由于肿瘤的位置,Vater的乳头是可以保留的,她接受了部分十二指肠切除术代替胰十二指肠切除术。病理上,肿瘤是高分化腺癌,分类为T3N0M0IIA期(UICC,第8版)。术后进展顺利,食欲恢复。错配修复基因MSH2的突变在遗传上证实了Muir-Torre综合征的诊断。三年后,她的营养状况已完全恢复,没有复发和转移。
    结论:在合并皮肤皮脂腺肿瘤和胃肠道恶性肿瘤的患者中,强烈建议进行基因筛查。Muir-Torre综合征患者需要长期随访,和功能保持治疗是可取的。
    BACKGROUND: Muir-Torre syndrome is an autosomal-dominant mutation in mismatch repair genes that gives rise to sebaceous tumors and visceral malignancies over time. Because colorectal and genitourinary cancers are common in Muir-Torre syndrome, duodenal carcinoma diagnoses are often delayed.
    METHODS: A 58-year-old woman presented with severe emaciation, anorexia, and upper abdominal pain. She had a history of rectal carcinoma, ascending colon carcinoma, and a right shoulder sebaceous carcinoma. Upper gastrointestinal endoscopy and computed tomography examinations suggested duodenal obstruction due to superior mesenteric artery syndrome, leading to long-term observation. Seven months later, she was finally diagnosed with duodenal carcinoma of the third portion. As the papilla of Vater was preservable due to tumor location, she received a partial duodenectomy in lieu of a pancreatoduodenectomy. Pathologically, the tumor was a well-differentiated adenocarcinoma with a classification of T3N0M0 Stage IIA (UICC, 8th edition). The postoperative course was uneventful and her appetite returned. A mutation in mismatch repair gene MSH2 confirmed the diagnosis of Muir-Torre syndrome genetically. Three years later, her nutritional status has fully recovered and she is free from both recurrence and metastasis.
    CONCLUSIONS: In patients with comorbid skin sebaceous tumors and gastrointestinal malignancies, genetic screening is strongly recommended. Patients with Muir-Torre syndrome require long-term follow-up, and function-preserving treatment is desirable.
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