trichoepithelioma

  • 文章类型: Journal Article
    报告目的:Brooke-Spiegler综合征(BSS)是一种罕见的常染色体显性疾病,其特征是圆柱瘤的生长,螺旋腺瘤,毛发上皮瘤,或他们的组合。这些肿瘤通常在第二个十年开始,并且随着时间的推移,数量和大小逐渐增加。诊断需要考虑家族史,临床检查,组织学发现,和遗传分析。本文旨在探讨Brooke-Spiegler综合征(BSS)和1型神经纤维瘤病(NF1)之间的临床重叠。我们旨在强调与鉴别诊断相关的挑战,并强调缺乏标准化的诊断标准和治疗方法。案例介绍:特此,我们介绍了一例因怀疑1型神经纤维瘤病(NF1)而转诊的28岁男性,他最初拒绝推荐的头皮肿块手术切除.四年后,他带着更大的头皮回来,切除了多个肿块,露出的圆柱瘤,螺旋腺瘤,和螺旋腺细胞瘤。家族史报告他父亲有类似的肿瘤,他还因头皮上存在多个皮下病变而被诊断为NF1。临床重叠导致遗传咨询,但检测CYLD突变并无显著变异.尽管如此,强烈的家族史和一致的发现导致了布鲁克-斯皮格勒综合征的修订诊断,纠正NF1综合征的初步误诊。结论:由于过去二十年来BSS研究的不断发展,它的分子基础,临床表现,组织病理学特征现在更清晰了。然而,当怀疑有BSS时,必须进行全面的家族史评估.我们认为,在处理BSS时,多学科方法和专家之间的合作至关重要。通过分享这个案例,我们希望强调将BSS视为鉴别诊断的重要性,特别是在非典型表现或与NF1等其他综合征重叠的情况下。
    Aim of the report: Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke-Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke-Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1.
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  • 文章类型: Journal Article
    经常在小型哺乳动物宠物中观察到皮肤肿瘤疾病,比如狗,不管他们的性别。
    这项工作的一个重要目标是全面介绍临床,病态,和几种狗皮肤肿瘤的免疫组织化学特征。
    这项研究是医院诊所的一个案例系列,兽医学院,扎加齐格大学,埃及。在2022年3月至2023年10月期间,对25只狗(14只雄性和11只雌性)进行了临床检查。从受影响的动物收集皮肤肿胀,然后进行详细的组织病理学研究,以记录不同的总体和微观发现,并通过免疫组织化学确认诊断。
    狗的皮肤瘤形成暴露于各种临床症状,狗的年龄在3到11岁之间。关于肿瘤特征,大多数肿瘤的恶性(65.52%)高于良性(34.48%)。研究发现29例犬存在瘤形成,患病率不同,包括鳞状细胞癌(13.79%),肥大细胞瘤(6.89%),基底细胞肿瘤(10.34%),组织细胞瘤(6.89%),毛发上皮瘤(10.34%),传染性性病瘤(10.34%),三毛鞘瘤(3.44%),头皮副神经节瘤(3.44%),毛囊瘤(10.34%),恶性黑色素瘤(17.24%),和其他病例为脂肪坏死(6.89%),在具有不同组织病理学病变和全细胞角蛋白(CK)的免疫组织化学表达的雄性和雌性犬中,黑素细胞分化抗原(S100蛋白),和突触素。
    恶性黑素瘤(17.24%)是本研究中最常见的皮肤肿瘤。同时,良性肿瘤如毛癣瘤,毛发上皮瘤,pilomatricoma,副神经节瘤在狗中的发病率较低。
    UNASSIGNED: Cutaneous neoplastic disorders are often observed in small mammal pets, such as dogs, regardless of their gender.
    UNASSIGNED: An important objective of this work was to give a full account of the clinical, pathological, and immune-histochemical features of several skin tumors in dogs.
    UNASSIGNED: This study was a case series in the hospital clinic, Faculty of Veterinary Medicine, Zagazig University, Egypt. Twenty-five dogs (14 males and 11 females) were examined clinically during the period from March 2022 to October 2023. The skin swelling was collected from affected animals and then subjected to a detailed histopathological study to record the different gross and microscopic findings and confirm the diagnosis by immunohistochemistry.
    UNASSIGNED: Skin neoplasia in dogs was exposed to various clinical signs, and the dogs\' ages ranged between 3 and 11 years. Concerning tumor features, the majority of neoplasms were malignant (65.52%) more than benign (34.48%). The study revealed the presence of 29 cases of dogs showed neoplasia with different prevalence rates including squamous cell carcinoma (13.79%), mast cell tumor (6.89%), basal cell tumors (10.34%), histiocytoma (6.89%), trichoepithelioma (10.34%), transmissible venereal tumor (10.34%), trichilemmoma (3.44%), scalp paraganglioma (3.44%), pilomatricoma (10.34%), malignant melanomas (17.24%), and miscellaneous cases as fat necrosis (6.89%), in males and females dogs with different histopathological lesions and immunohistochemistry expressions for pan-cytokeratin (CK), melanocyte-differentiation antigens (S100 protein), and synaptophysin.
    UNASSIGNED: Malignant melanomas (17.24%) are the extremely common cutaneous tumors diagnosed in this study. Meanwhile, benign tumors such as trichilemmoma, trichoepithelioma, pilomatricoma, and paraganglioma are less frequent in dogs.
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  • 文章类型: Journal Article
    古代帕提亚帝国的Arsacid王朝的多位国王在他们的造币上描绘了面部复发性病变,一个在多代中发现的。多种理论试图解释这种现象,从基底细胞癌到遗传性毛发上皮瘤。在本文中,我们认为这些病变可能是神经纤维瘤病1中发现的神经纤维瘤的代表,这是一种常染色体显性遗传的疾病过程。
    Multiple kings of the Arsacid Dynasty of the ancient Parthian Empire are depicted on their coinage with a recurrent facial lesion, one that is found across multiple generations. Multiple theories have attempted to explain this phenomenon, from basal cell carcinoma to hereditary trichoepithelioma. In this paper, we suggest that these lesions are possibly a representation of the neurofibromas found in Neurofibromatosis 1, an autosomal dominant disease process.
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  • 文章类型: Case Reports
    多发性毛发上皮瘤综合征是一种罕见的实体,对其流行病学特征知之甚少。患者通常表现为多个非可疑皮肤病变。手术切除是治疗的主要手段,诊断通常在第一次病理报告后进行。一旦诊断确定,病人接受临床监测,如果肿瘤负荷和/或大小证明是合理的,则再次进行手术。作者介绍了一名男性患者,该患者36年来首次到我们的门诊就诊,没有任何相关病史,药物,或过敏。患者抱怨多个皮肤病变遍布头部和颈部。进行了受影响区域的手术切除和使用局部前移皮瓣进行表面修复。病理报告始终与毛发上皮瘤一致。从未报告过螺旋腺瘤或圆柱瘤的病理。通常,肿瘤足够小,可以进行简单的切除和原发性闭合。然而,在提出的情况下,肿瘤的大小和中央面部美学单元的参与需要更复杂的方法。
    Multiple trichoepithelioma syndrome is a rare entity, and little is known about its epidemiological features. Patients usually present with multiple nonsuspicious skin lesions. Surgical excision is the mainstay of treatment, and diagnosis is usually made after the first pathology report. Once the diagnosis is established, patients are kept under clinical surveillance, and surgery is performed again if tumor burden and/or size justifies it. The authors present a male patient who presented to our outpatient clinic for the first time in 36 years without any relevant medical history, medication, or allergies. The patient had complaints of multiple skin lesions spreading across the head and neck regions. Surgical excision of the affected area and resurfacing using local advancement flaps were performed. Pathology reports were always consistent with trichoepitheliomas. No pathology of spiradenoma or cylindroma was ever reported. Usually, tumors are small enough for simple excision and primary closure. However, in the presented case, the size of the tumor and the involvement of central facial aesthetic units demanded a more complex approach.
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  • 文章类型: Journal Article
    近年来,1型三鼻咽综合征(TRPS1)免疫组织化学(IHC)染色越来越多地用作乳腺癌的标志物。TRPS1基因参与多种组织,包括毛囊的生长和分化。本文旨在评估具有滤泡分化的皮肤肿瘤中TRPS1的IHC表达,如成纤维细胞瘤(TB),毛发上皮瘤(TE),和基底细胞癌(BCC)。对13个TB进行了IHC研究,15个TE,和15个具有针对TRPS1的抗体的BCC。本研究发现,在TB的肿瘤巢中,TRPS1的可变染色表达,TE,和BCC。BCC的不同之处在于,没有一个BCC表现出中等或高阳性,虽然TB和TE在5/13(38%)和3/15(20%)的病例中显示出中高阳性,分别。我们在TB和TE的间充质细胞中观察到不同的染色模式。我们发现TRPS1突出了与TB和TE肿瘤细胞巢相邻的滤泡周间充质细胞。这种染色模式在BCC中不存在,其中只有分散的基质细胞对TRPS1呈阳性。TRPS1在TB和TE中也突出了乳头状间充质体。TRPS1染色正常毛囊的各个部位,包括生发基质中的细胞核,外根鞘,和毛乳头.TRPS1可能是卵泡分化的有用IHC标记。
    The trichorhinophalangeal syndrome type 1 (TRPS1) immunohistochemical (IHC) stain has increased in use in recent years as a marker for breast carcinomas. The TRPS1 gene is involved in various tissues, including the growth and differentiation of hair follicles. This article seeks to evaluate the IHC expression of TRPS1 in cutaneous neoplasms with follicular differentiation, such as trichoblastoma (TB), trichoepithelioma (TE), and basal cell carcinoma (BCC). IHC studies were performed on 13 TBs, 15 TEs, and 15 BCCs with an antibody against TRPS1. The study found a variable staining expression of TRPS1 in the tumor nests of TB, TE, and BCC. BCCs were distinct in that none of the BCCs demonstrated intermediate or high positivity, while TBs and TEs showed intermediate-to-high positivity in 5/13 (38%) and 3/15 (20%) of cases, respectively. We observed a distinct staining pattern among the mesenchymal cells of TB and TE. We found that TRPS1 highlighted perifollicular mesenchymal cells adjacent to the nests of TB and TE tumor cells. This staining pattern was absent in BCCs, where only scattered stromal cells were positive for TRPS1. Papillary mesenchymal bodies were also highlighted by TRPS1 in TB and TE. TRPS1 stained various parts of the normal hair follicle, including the nuclei of cells in the germinal matrix, outer root sheaths, and hair papillae. TRPS1 may be a useful IHC marker for follicular differentiation.
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  • 文章类型: Journal Article
    基底细胞癌(BCC)是最常见的皮肤恶性肿瘤。在大多数情况下,BCC可以通过其特征性的组织病理学特征来诊断。鉴别诊断包括基底细胞样鳞状细胞癌(SqCC)和滤泡分化的附件肿瘤。据报道,分化簇10(CD10)和免疫染色的名称(BerEP4)可用于区分它们。
    主要目的是比较BCC中BerEP4和CD10的表达与SqCC和滤泡分化的附件肿瘤的表达,次要目的是评估BCC不同组织学亚型的比例。
    28例BCC,本描述性研究包括在2017年1月至2018年6月研究期间在该机构接受的34例SqCC和16例卵泡分化附件肿瘤。用CD10和BerEP4进行免疫染色,并对所有78例患者的染色模式进行了研究。对BCC病例进行了详细的组织病理学评估,包括亚型分型。
    所有BCC均显示CD10和BerEP4阳性,但强度和模式有所不同。鳞状细胞癌对肿瘤细胞中的BerEP4和CD10完全阴性,34例中有25例显示基质CD10阳性。在卵泡分化的附件肿瘤中,增殖性毛囊肿瘤的两种标志物均完全阴性;其他附件肿瘤(n=11/16)显示CD10的瘤周基质加重,11例中有9例显示BerEP4肿瘤细胞阳性(P<0.001).
    BerEP4可以可靠地检测所有类型的BCC,并区分BCC和SqCC,但它不能这样做的附件肿瘤,如毛发上皮瘤,三毛鞘瘤和三毛母细胞瘤。CD10是区分毛发上皮瘤(TE)和SqCC与BCC的有用辅助标记。CD10阳性的肿瘤细胞有利于诊断BCC和肿瘤周围基质加重,以诊断毛囊母细胞瘤(TB)和毛囊瘤(TL)。SqCC中的肿瘤细胞几乎总是CD10阴性。CD10和BerEP4的联合免疫组织化学(IHC)小组可以作为诊断BCC的非常可靠的辅助手段。
    UNASSIGNED: Basal cell carcinoma (BCC) is the most common cutaneous malignancy. In most cases, BCC can be diagnosed by its characteristic histopathological features. The differential diagnosis includes basaloid squamous cell carcinoma (SqCC) and adnexal tumours of follicular differentiation. Cluster of differentiation 10 (CD10) and name of an immunostain (BerEP4) are reported to be useful in differentiating between them.
    UNASSIGNED: The primary objective was to compare the expression of BerEP4 and CD10 in BCC with that of SqCC and adnexal tumours of follicular differentiation, and the secondary objective was to evaluate the proportion of different histological subtypes of BCC.
    UNASSIGNED: Twenty-eight cases of BCCs, 34 cases of SqCCs and 16 adnexal tumours of follicular differentiation received in the institution during the study period January 2017 to June 2018 were included in this descriptive study. Immunostaining with CD10 and BerEP4 was performed, and the staining pattern was studied in all 78 cases. A detailed histopathological evaluation including subtyping was carried out for BCC cases.
    UNASSIGNED: All BCCs showed positivity with CD10 and BerEP4, but the intensity and pattern varied. Squamous cell carcinomas were completely negative for BerEP4 and CD10 in tumour cells, and 25 of 34 cases showed stromal CD10 positivity. Among adnexal tumours of follicular differentiation, proliferating trichilemmal tumour was completely negative for both markers; other adnexal tumours (n = 11/16) showed peritumoral stromal accentuation for CD10, and nine of 11 cases showed BerEP4 tumour cell positivity (P < 0.001).
    UNASSIGNED: BerEP4 can reliably detect BCCs of all types and distinguish between BCC and SqCC, but it is unable to do so for adnexal tumours such as trichoepithelioma, trichilemmoma and trichoblastoma. CD10 is a useful adjunct marker in distinguishing both trichoepithelioma (TE) and SqCC from BCC. CD10-positive tumour cells favour a diagnosis of BCC and peritumoral stromal accentuation for trichoblastoma (TB) and trichilemmoma (TL). Tumour cells in SqCC are almost always negative for CD10. A combined immunohistochemistry (IHC) panel of CD10 and BerEP4 can serve as a very reliable adjunctive in the diagnosis of BCC.
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  • 文章类型: Case Reports
    目的:描述一名患有Brooke-Spiegler综合征的妇女成功接受放射治疗的情况,该妇女在整个头皮上有多个毁容性圆柱瘤,在躯干上有进一步的肿瘤。
    方法:经过数十年的常规治疗,包括手术和局部应用水杨酸,这位73岁的妇女同意接受放射治疗。她的头皮接受了60Gy,腰椎区域的疼痛结节接受了36Gy。
    结果:经过14年和11年的随访,分别,头皮结节几乎完全消退,而腰椎结节变得无痛且小得多。除了脱发,治疗没有后期不良反应。
    结论:该病例应提醒我们放疗在治疗Brooke-Spiegler综合征中的潜在作用。由于缺乏放射治疗经验,治疗这种广泛疾病所需的剂量仍然存在争议。这个病例表明,对于头皮肿瘤,30×2Gy可导致肿瘤的长期控制,而其他剂量处方可能足以治疗其他部位的肿瘤。
    To describe the case of successful radiotherapeutic treatment of a woman suffering from Brooke-Spiegler syndrome who had multiple disfiguring cylindromas on the entire scalp and further tumors on the trunk.
    After decades of treatment with conventional therapies including surgery and topically applied salicylic acid, the 73-year-old woman agreed to undergo radiotherapeutic treatment. She received 60 Gy to the scalp and 36 Gy to painful nodules in the lumbar spine region.
    Over a follow-up period of 14 and 11 years, respectively, the scalp nodules almost completely regressed, while the lumbar nodules became painless and considerably smaller. Apart from alopecia, no late adverse effects of treatment remain.
    This case should remind us of the potential role that radiotherapy could play in treating Brooke-Spiegler syndrome. The required dose for treatment of such extensive disease is still a matter of debate due to the scarcity of radiotherapeutic experience. This case demonstrates that for scalp tumors, 30 × 2 Gy can result in long-term tumor control, while other dose prescriptions may be adequate for tumors in other locations.
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  • 文章类型: Case Reports
    背景:孤立性毛上皮瘤(TE)是良性肿瘤,与恶性肿瘤相似,基底细胞癌(BCC)。
    方法:一名83岁的男子,有10年的右下眼睑皮肤肿块病史,最初被诊断为BCC。术中,我们对皮肤缺损进行了切除活检,并对标本进行组织病理学处理.最终,组织病理学结果提示诊断为良性毛囊肿瘤。术后结果美观,下盖的完整性得以保留。
    结论:尽管很少见,良性孤立性TE常被误诊为恶性BCC,反之亦然。由于其相似的临床和组织学图片,眼整形外科医生在区分两种病理方面面临相当大的困难。因此,当遇到这种差异时,应考虑切除活检,以避免复发或恶性转化的可能性。此外,在这种明确的发现中,免疫组织化学染色可以提高诊断的准确性。
    结论:临床,皮肤镜和组织病理学检查结果对于建立准确的诊断和选择适当的治疗方法至关重要。深入了解眼睑重建原理是实现理想目标的必要条件。
    BACKGROUND: Solitary trichoepitheliomas (TE) are benign tumors that are strikingly similar to their malignant counterpart, basal cell carcinoma (BCC).
    METHODS: An 83-year-old man presented with a 10-year history of a right lower lid skin mass initially diagnosed as BCC. Intraoperatively, an excisional biopsy was performed with primary reconstruction of the skin defect and the specimen was submitted for histopathology processing. Eventually, histopathology findings suggested the diagnosis of benign hair follicle tumor. The postoperative results were aesthetically pleasing and the integrity of the lower lid was preserved.
    CONCLUSIONS: Despite being rare, benign solitary TE are frequently misdiagnosed as malignant BCC, and vice versa. Oculoplastic surgeons face considerable difficulty distinguishing the two pathologies due to their similar clinical and histological pictures. Hence, excisional biopsy should be considered whenever such discrepancy is confronted to avoid the possibility of recurrence or malignant transformation. Furthermore, immunohistochemical staining could increase the accuracy of diagnosis in such unequivocal findings.
    CONCLUSIONS: Correlation of clinical, dermoscopic and histopathological findings are essential to establish an accurate diagnosis and select the appropriate management. In-depth understanding of eyelid reconstruction principles is mandatory to achieve desirable goals.
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  • 文章类型: Journal Article
    背景:虽然基底细胞癌(BCC)可以,在大多数情况下,根据临床和皮肤镜评估进行诊断,似乎存在与良性附件皮肤肿瘤的潜在重叠,包括毛细胞肿瘤(TT)。方法:回顾性分析良性TT和BCC病例的临床和皮肤镜特征,以开发一种在临床实践中具有潜在实用性的诊断算法。结果:在研究中,502例经组织病理学证实的BCC病例与61TT(包括44TB(72.13%),10TE(16.39%)和7DTE(11.48%])。BCC组的患者在统计学上年龄较大(平均年龄为71.4岁vs.64.4年,分别为;p=0.009)。BCC通常表现为较大的肿瘤(平均肿瘤大小11.0与TT组8.2mm;p=0.001),并且更频繁地与临床上可见的溃疡相关(59.4%vs.19.7%,分别为p<0.001)。病变形态比较,临床上可见的色素沉着,和解剖位置在分析组之间没有显着差异。与TT组相比,BCC组的皮肤可见溃疡明显更常见(52.2%vs.14.8%;p<0.0001)。色素结构,特别是棕色点和棕色小球,在TT组中明显更普遍(32.8%vs.11.4%;p=0.0001和29.5%与8.2%;p<0.0001)。同样,TT比BCC更常见,显示存在混浊/星状的milia样囊肿(26.2%vs.11.6%;p=0.0031)和黄色小球(16.4%vs.7.2%;p=0.033)。结论:尽管研究组中BCC和TT之间的临床和皮肤镜特征频率存在差异,基于这些变量的鉴别诊断是不可靠的。组织病理学检查仍然是鉴别BCC和TT的诊断金标准。
    Background: Although basal cell carcinoma (BCC) can, in the majority of cases, be diagnosed based on clinical and dermoscopic assessment, a potential overlap with benign adnexal skin tumours seems to exist, including trichoblastic tumours (TT). Methods: Retrospective analysis of clinical and dermoscopic features of benign TT and BCC cases was performed to develop a diagnostic algorithm with a potential utility in clinical practice. Results: In the study, 502 histopathologically confirmed BCC cases were compared with 61 TT (including 44 TB (72.13%), 10 TE (16.39%) and 7 DTE (11.48%]). Patients in the BCC group were statistically older (mean age was 71.4 vs. 64.4 years, respectively; p = 0.009). BCC presented generally as larger tumours (mean tumour size 11.0 vs. 8.2 mm for the TT group; p = 0.001) and was more frequently associated with clinically visible ulceration (59.4% vs. 19.7%, respectively; p < 0.001). Comparison of lesion morphology, clinically visible pigmentation, and anatomical location did not show significant differences between the analysed groups. Dermoscopically visible ulceration was significantly more common in the BCC group compared to the TT group (52.2% vs. 14.8%; p < 0.0001). Pigmented structures, specifically brown dots and brown globules, were significantly more prevalent in the TT group (32.8% vs. 11.4%; p = 0.0001 and 29.5% vs. 8.2%; p <0.0001). Similarly, TT more commonly than BCC showed the presence of cloudy/starry milia-like cysts (26.2% vs. 11.6%; p = 0.0031) and yellow globules (16.4% vs. 7.2%; p = 0.033). Conclusions: Despite differences in frequency of clinical and dermoscopic features between BCC and TT in the studied group, differential diagnosis based on these variables is not reliable. Histopathological examination remains a diagnostic gold standard in differentiation of BCC and TT.
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