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Cutaneous Neuroendocrine Metastases of Visceral Origin Responsive to Surgical Resection and Targeted Radionuclide Therapy. 对手术切除和放射性核素靶向治疗敏感的内脏源皮肤神经内分泌转移瘤
Q3 Medicine Pub Date : 2024-02-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8873822
Eleanor Tung-Hahn, Ghassan El-Haddad, Jonathan Strosberg

Neuroendocrine neoplasms (NENs) encompass a diverse range of biologically and behaviorally distinct epithelial malignancies that derive from neuroendocrine cells. These neoplasms are able to secrete a variety of bioactive amines or peptide hormones. The majority of NENs are well-differentiated and are defined as neuroendocrine tumors (NETs). While NETs are known to frequently metastasize to lymph nodes, liver, and lungs, spread to the skin is extremely rare and is often a late finding. Because cutaneous metastasis from a visceral site represents distant tumor dissemination, prompt histologic diagnosis is critical in terms of selecting further treatment options and ultimately impacts subsequent prognosis. This report presents a man with painful cutaneous NET metastases initially on the face then scalp. He had a prior history of longstanding and progressive stage IV visceral disease. Multimodal therapy with initial surgical resection of the larger facial lesion and radionuclide infusion therapy was undertaken. Excision fully removed the temple lesion and resolved pain. Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE, a radiolabeled somatostatin analog that targets somatostatin receptors on NETs, was given along with maintenance lanreotide therapy, which resolved the scalp lesion, prevented recurrence of prior lesions and development of new cutaneous metastases, and controlled his visceral disease. PRRT has not been previously described in the management of cutaneous NET metastases. Due to the rare nature of cutaneous NET metastases, there is no consensus regarding optimal management. As such, we propose novel multimodal therapy involving excision and targeted radionuclide therapy as a possible effective option.

神经内分泌肿瘤(NENs)包括各种不同的生物和行为上独特的上皮恶性肿瘤,它们都来自神经内分泌细胞。这些肿瘤能够分泌多种生物活性胺或肽类激素。大多数神经内分泌瘤分化良好,被定义为神经内分泌瘤(NET)。众所周知,NET 常常会转移到淋巴结、肝脏和肺部,但转移到皮肤的情况极为罕见,而且往往是晚期才发现。由于内脏部位的皮肤转移代表着肿瘤的远处播散,因此及时的组织学诊断对于选择进一步的治疗方案至关重要,并最终影响后续的预后。本报告介绍了一名男性患者,他患有疼痛性皮肤 NET 转移瘤,最初出现在面部,后来转移到头皮。他曾有长期和进展性内脏疾病 IV 期病史。患者接受了多模式治疗,最初通过手术切除了面部较大的病灶,并进行了放射性核素输注治疗。切除手术完全清除了太阳穴病灶,并缓解了疼痛。177Lu-DOTATATE是一种放射性标记的体生长抑素类似物,可靶向NET上的体生长抑素受体,患者在接受兰瑞奥肽维持治疗的同时接受了肽受体放射性核素治疗(PRRT),头皮病变得到了根治,防止了之前病变的复发和新的皮肤转移,内脏疾病也得到了控制。在治疗皮肤NET转移方面,PRRT以前从未有过描述。由于皮肤 NET 转移瘤的罕见性,目前尚未就最佳治疗方法达成共识。因此,我们提出了新颖的多模式疗法,包括切除术和靶向放射性核素疗法,作为一种可能的有效选择。
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引用次数: 0
Metastatic Esophageal Adenocarcinoma Presenting as Neck Dermal Metastasis. 表现为颈部真皮转移的转移性食管腺癌
Q3 Medicine Pub Date : 2024-01-16 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7951391
Sara Ibrahim-Shaikh, Noah Shaikh, Nour Daboul, Esra Alshaikhnassir, Maria Hafez, Monika E Freiser

Dermal metastasis is a rare manifestation of visceral disease, and esophageal adenocarcinomas represent around only 1% of primaries that present with cutaneous metastasis. In this case, we discuss a patient who presented with a painless submental mass and extensive right neck cutaneous induration and erythema. Core needle biopsy demonstrated poorly differentiated adenocarcinoma. Blood testing also demonstrated elevated carbohydrate antigen 19-9, carcinoembryonic antigen, and alkaline phosphatase. PET/CT followed by esophagoscopy led to the diagnosis of esophageal signet-cell adenocarcinoma primary with isolated dermal metastasis. The patient was started on palliative radiotherapy and passed away two months later from a suspected thoracic fistula and hydropneumothorax.

皮肤转移是内脏疾病的一种罕见表现,食管腺癌仅占出现皮肤转移的原发癌的 1%左右。在本病例中,我们讨论了一名因无痛性门下肿块和广泛的右颈部皮肤压痕和红斑而就诊的患者。核心针活检显示为分化较差的腺癌。血液检测还显示碳水化合物抗原 19-9、癌胚抗原和碱性磷酸酶升高。PET/CT 和食管镜检查后,诊断为食管原发信号细胞腺癌,伴有孤立的真皮转移。患者开始接受姑息性放疗,两个月后因疑似胸腔瘘和水肺气胸去世。
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引用次数: 0
Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review. 视黄醇疗法在一例 Harlequin 鱼鳞病病例中的应用及简短文献综述。
Q3 Medicine Pub Date : 2024-01-12 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8729318
Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman

Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.

Harlequin 鱼鳞病(HI)是一种遗传性表皮疾病,是由于负责脂质运输的 ABCA12 基因发生突变而引起的。该病的病例数量不多,死亡率较高。在本病例报告中,一名孕妇产下了一个 33 周大的早产儿,并伴有 HI 的特征性症状。将其送入新生儿重症监护室后,儿科皮肤科医生、眼科医生、泌尿科医生和营养师对其进行了多学科治疗。预后良好,角化过度板块脱屑,皮肤红斑发亮。此外,还补充了有关 HI 特征、诊断辅助工具和治疗方法的简短文献综述。
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引用次数: 0
Bullous Hemorrhagic Dermatosis Induced by Enoxaparin: About a Case in Madagascar. 依诺肝素致大疱性出血性皮肤病:马达加斯加1例。
Q3 Medicine Pub Date : 2023-11-02 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5710870
Fenohasina Rakotonandrasana, Fandresena Arilala Sendrasoa, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Herin'Ny Fitiavana Princia Andriatahina, Voahanginirina Nathalie Ralimalala, Samson Léophonte Ramily, Moril Sata, Onivola Raharolahy, Malalaniaina Andrianarison, Irina Mamisoa Ranaivo, Lala Soavina Ramarozatovo, Fahafahantsoa Rapelanoro Rabenja

Bullous hemorrhagic dermatosis is an adverse reaction occurring within 5 to 21 days after anticoagulation; the diagnosis is to be evoked in the presence of hemorrhagic bullous lesions at a distance from the injection site in the days following the introduction of anticoagulant; this is a diagnosis of exclusion. It is a rare pathology that mainly affects the elderly. A 54-year-old man presented with bullous hemorrhagic lesions on the left upper limb starting at the 4th day after enoxaparin injection, diagnosed as a bullous hemorrhagic dermatosis induced by enoxaparin. We report the first case of bullous hemorrhagic dermatosis induced by enoxaparin in Madagascar.

大疱性出血性皮肤病是抗凝后5 ~ 21天内发生的不良反应;在使用抗凝剂后的几天内,在注射部位远处出现出血性大疱性病变时,应引起诊断;这是一种排除性诊断。这是一种罕见的病理,主要影响老年人。54岁男性,注射依诺肝素后第4天开始出现左上肢大疱性出血性病变,诊断为依诺肝素所致大疱性出血性皮肤病。我们报告第一例大疱出血性皮肤病诱发依诺肝素在马达加斯加。
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引用次数: 0
Is Exploration of Alternate Immune Pathways Needed in Hidradenitis Suppurativa? A Case of Atopic Dermatitis and Concurrent Hidradenitis Suppurativa Responding to Dupilumab. 是否需要探索化脓性痢疾的替代免疫途径?一例对Dupilumab有反应的特应性皮炎和并发化脓性腮腺炎。
Q3 Medicine Pub Date : 2023-10-23 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5189034
Sean McCormack, Noor Tazudeen, Benjamin C Garden

Hidradenitis suppurativa (HS) is an inflammatory dermatosis associated with overactive T helper 1/T helper 17 (Th1/Th17) cells. HS has been effectively treated with biologic medications; however, many such biologics lack large randomized controlled trials. Only one such biologic, adalimumab, has been approved by the US Food and Drug Administration (FDA) for the treatment of HS. Other such biologics currently being studied for HS downregulate Th1/Th17 inflammatory pathways. We describe a patient with atopic dermatitis (AD) and comorbid HS, both of which improved several months into treatment with dupilumab. Interestingly enough, dupilumab targets Th2-mediated inflammatory skin conditions through the inhibition of IL-4/IL-13 cytokines. While dupilumab is known for its success in treating Th2-mediated inflammation, this presents a paradox as HS is a Th1/Th17 inflammatory condition. This case highlights how the inflammatory process of HS is not fully understood and how biologic pharmacologic interventions need to be further studied to determine their efficacy in treating HS.

化脓性手足口炎(HS)是一种与Th1/Th17细胞过度活跃有关的炎症性皮肤病。HS已得到生物药物的有效治疗;然而,许多此类生物制剂缺乏大型随机对照试验。只有一种生物制剂阿达木单抗被美国食品药品监督管理局批准用于治疗HS。目前正在研究HS下调Th1/Th17炎症途径的其他此类生物制品。我们描述了一名患有特应性皮炎(AD)和合并HS的患者,这两种疾病在使用杜匹单抗治疗几个月后都有所改善。有趣的是,dupilumab通过抑制IL-4/IL-13细胞因子来靶向Th2介导的炎症性皮肤病。虽然dupilumab以其成功治疗Th2介导的炎症而闻名,但这是一个悖论,因为HS是Th1/Th17炎症性疾病。该病例强调了HS的炎症过程尚不完全清楚,以及需要进一步研究生物药理学干预措施以确定其治疗HS的疗效。
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引用次数: 0
Drug-Induced Erythema Multiforme. 药物诱导的多型红斑。
Q3 Medicine Pub Date : 2023-10-23 eCollection Date: 2023-01-01 DOI: 10.1155/2023/8706006
Peeyush Shivhare, Naqoosh Haidry, Anka Sharma, Deepali Agrawal, Abhishek Gupta, Shalini Subramanyam

Erythema multiforme (EM) is an acute inflammatory, mucocutaneous, psychosomatic, and vesiculobullous condition that varies from minor to major forms. The acral distribution of target lesions is a characteristic of this condition. The aetiology of erythema multiforme is multifactorial. 90% of the cases are triggered by a herpes infection, whereas 10% occur secondary to drug intake. The offending drugs include nonsteroidal anti-inflammatory drugs, antibiotics, and anticonvulsants. The present case series discusses four cases of drug-induced erythema multiforme and their management.

多形性红斑(EM)是一种急性炎症性、皮肤粘膜性、心身性和水疱性疾病,从轻微到主要形式不等。目标病变的肢端分布是这种情况的特征。多形性红斑的病因是多因素的。90%的病例是由疱疹感染引发的,而10%的病例是继发于药物摄入。违规药物包括非甾体抗炎药、抗生素和抗惊厥药。本病例系列讨论了四例药物性多形性红斑及其治疗。
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引用次数: 0
Pemphigus Foliaceus after COVID-19 Vaccination: A Report of Two Cases. 新冠肺炎疫苗接种后对叶天疱疮:两例报告。
Q3 Medicine Pub Date : 2023-10-19 eCollection Date: 2023-01-01 DOI: 10.1155/2023/1218388
Nguyen Nhat Pham, Thuy Thi Phan Nguyen, Thao Thi Phuong Vu, Hao Trong Nguyen

Autoimmune bullous diseases (AIBDs) following coronavirus disease (COVID-19) vaccination have been previously documented in medical literature, given the comparable nature of the RNA antigen in these vaccines to that of the cellular nuclear matter. However, pemphigus foliaceus has been reported less frequently than other postimmunization AIBDs worldwide. Two women were admitted to our hospital with skin erosion over their faces, trunks, and extremities after receiving COVID-19 vaccination. Upon examination and consultation with pathologists, the diagnosis of pemphigus foliaceus was confirmed for both patients. In an effort to contribute to the knowledge on this intriguing topic, we present these two aforementioned cases of pemphigus foliaceus following COVID-19 vaccination, which may initially appear as a typical occurrence but exhibit some noteworthy characteristics.

鉴于冠状病毒病(新冠肺炎)疫苗接种后的自身免疫大疱病(AIBD)与细胞核物质的RNA抗原性质相当,医学文献中先前已记录了这些疾病。然而,据报道,与世界各地其他社区化后AIBD相比,叶面天疱疮的发病率较低。两名女性在接种新冠肺炎疫苗后,因面部、躯干和四肢皮肤侵蚀入院。经检查和病理学家会诊,两名患者均确诊为叶面天疱疮。为了对这一有趣话题的知识做出贡献,我们介绍了上述两例新冠肺炎疫苗接种后的叶片天疱疮病例,这两例病例最初可能是典型的,但表现出一些值得注意的特征。
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引用次数: 0
Reactive Granulomatous Dermatitis in a Child with Acute Lymphoblastic Leukemia. 儿童急性淋巴细胞白血病反应性肉芽肿性皮炎。
Q3 Medicine Pub Date : 2023-10-12 eCollection Date: 2023-01-01 DOI: 10.1155/2023/3428162
Hannah C Tolson, Mariana McCune, Miranda Yousif, David DiCaudo, Elizabeth Dupuy

Reactive granulomatous dermatitis (RGD) is an umbrella term to describe a reaction pattern characterized by skin-colored to erythematous papules, plaques, and nodules although other morphologies have been described. RGD has rarely been reported in children, and in this report, we present the case of a 3-year-old girl with acute lymphoblastic leukemia (ALL) who presented with firm, tender nodules, and ulcerated plaques on her extremities. Histopathologic examination showed foci of dense granulomatous inflammatory infiltrates composed of histiocytes, neutrophils, and multinucleate giant cells. The constellation of clinical symptoms, negative infectious workup, and histopathology support the diagnosis of RGD.

反应性肉芽肿性皮炎(RGD)是一个总括性术语,用于描述以皮肤着色为红斑丘疹、斑块和结节为特征的反应模式,尽管已经描述了其他形态。RGD在儿童中很少报道,在本报告中,我们介绍了一例患有急性淋巴细胞白血病(ALL)的3岁女孩,她四肢出现坚硬、柔软的结节和溃疡斑块。组织病理学检查显示由组织细胞、中性粒细胞和多核巨细胞组成的致密肉芽肿性炎症浸润灶。临床症状、阴性感染检查和组织病理学支持RGD的诊断。
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引用次数: 0
Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation. Clouston综合征:一个患有GJB6基因突变的约旦家庭的报告。
Q3 Medicine Pub Date : 2023-10-12 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5577379
Rand Murshidi, Heba Al-Lala

Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.

外胚层发育异常(ED)包括一系列条件,其中源自外胚层的两个或多个结构的发育表现出异常模式。这种罕见的外胚层发育不良的一个例子是多汗性外胚层发育异常,也称为Clouston综合征。这种特殊的变体有三种临床特征,包括部分至完全脱发、指甲营养不良和掌跖角化过度。它是一种罕见的常染色体显性遗传性疾病,由编码间隙连接蛋白连接蛋白30的GJB6基因突变引起。我们在此记录一名45岁的约旦妇女的病例,她除了指甲营养不良外,还患有影响头皮、眉毛和睫毛的脱发。有趣的是,她没有表现出掌跖角化病。值得一提的是,她的几个大家庭成员也表现出类似的临床特征。随后的基因检测最终确定了克劳斯顿综合征的诊断。根据这一诊断,对患者进行了全面的咨询。
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引用次数: 0
Atypical Mal de Meleda in a Hispanic Patient. 一名西班牙裔患者的非典型Mal de Meleda。
Q3 Medicine Pub Date : 2023-09-14 eCollection Date: 2023-01-01 DOI: 10.1155/2023/6640311
Mónica Guevara, Michelle Mafla, Camila Miño

Mal de Meleda (MDM) is a rare autosomal palmoplantar keratoderma (PPK) skin disorder (estimated incidence of 1 per 100,000 people) commonly associated with consanguinity and early childhood onset. MDM is characterized by bilateral diffusion of PPK plaques with delimited yellowish lesions that transgredien to the dorsum of the hands and feet. Additional features include nail dystrophy, lichenoid lesions, hyperhidrotic maceration, involvement of the knees and elbows, malodor, fungal superinfections, and digital constrictions. A male patient aged 42 years presented with asymptomatic, chronic, and diffused PPK lesions that progressed to the dorsal surface of the hands and feet, along with knees and elbows involvement. On clinical examination, asymmetrical lesions were observed on the hands, the left palm with yellowish waxy hyperkeratotic plaques, and the right palm with erythematous scaling and hyperkeratotic interphalangeal rings. The soles of the feet presented with yellow waxy hyperkeratotic plaques. In addition, nail dystrophy and loss of dermatoglyphics were observed. Initially, symptomatic topical treatment was established. However, owing to the lack of clinical response, a biopsy was performed, which revealed thickened corneal layer, acanthosis, spongiosis, and perivascular lymphohistiocytic infiltrate. MDM diagnosis was confirmed based on a personal history of consanguinity, clinical presentation with absence of systemic symptoms, and transgredien pattern of the lesions. Systemic treatment with low doses of isotretinoin (10 mg orally everyday) was initiated, and two months later, slight clinical improvement has been observed until date. The present case report describes MDM in a Hispanic patient, who presented with asymmetric PPK lesions on the hands and received isotretinoin treatment.

Mal de Meleda(MDM)是一种罕见的常染色体掌跖角化病(PPK)皮肤病(估计发病率为十万分之一),通常与血缘关系和儿童早期发病有关。MDM的特征是PPK斑块的双侧扩散,有界限的黄色病变,这些病变转移到手和脚的背侧。其他特征包括指甲营养不良、地衣样病变、多汗浸渍、膝盖和肘部受累、恶臭、真菌重叠感染和指关节收缩。一名42岁的男性患者 年表现为无症状、慢性和弥漫性PPK病变,进展至手和脚的背表面,同时伴有膝盖和肘部受累。临床检查发现手部不对称病变,左手掌有黄蜡状角化过度斑块,右手掌有红斑性鳞屑和角化过度的指间环。脚底出现黄色蜡状角化过度斑块。此外,还观察到指甲营养不良和皮纹缺失。最初,建立了症状性局部治疗。然而,由于缺乏临床反应,进行了活检,发现角膜层增厚、棘皮病、海绵状血管病和血管周围淋巴组织细胞浸润。MDM的诊断是根据个人血亲史、无全身症状的临床表现和病变的变性模式来确认的。低剂量异维甲酸的全身治疗(10 每日口服mg),两个月后,迄今为止,观察到轻微的临床改善。本病例报告描述了一名西班牙裔患者的MDM,该患者手部出现不对称PPK病变,并接受了异维甲酸治疗。
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引用次数: 0
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Case Reports in Dermatological Medicine
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