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LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient. 豹综合征伴散发性PTPN11突变的沙特患者
Q3 Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/4161574
Hussein M Alshamrani, Luai M Assaedi, Jumanah A Bahattab, Abdulrahman M Mohammad, Magdy R Abdulghani

LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.

豹综合征(LS)是一种罕见的常染色体显性遗传或散发性遗传疾病,通常由蛋白酪氨酸磷酸酶非受体11型(PTPN11)基因的错义突变引起。由于其罕见和误诊的高机会,LS的流行病学概况是不完善的。据我们所知,这是沙特阿拉伯第二份记录PTPN11基因突变的报告。
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引用次数: 0
Treatment of Generalized Granuloma Annulare with Oral Griseofulvin. 口服灰黄霉素治疗广泛性环形肉芽肿。
Q3 Medicine Pub Date : 2022-11-18 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2523710
Chumsaeng Chumsaengsri, Jongjin Suwanthaweemeesuk

Background: Granuloma annulare (GA) is a benign skin disease that has four clinical variants including localized, generalized, perforating, and subcutaneous GA. The most common type is localized GA, followed by generalized GA. Generalized GA was defined as at least 10 widespread annular plagues and frequently on the trunk, face, neck, and extremities. The diagnosis was made by clinical and histopathology. Generalized GA was difficult to treat. Case Presentation. We presented a Thai woman with nonscaly annular papules and plaques on the trunk and all extremities. A skin biopsy revealed a lesion that was compatible with granuloma annulare. She was partially resolved with 2-month course of oral griseofluvin 500 mg daily. Discussion. The regression of GA response to oral griseofulvin is consistent with the inflammatory nature, which identified IFN-gamma upregulated in GA.

Conclusion: Griseofulvin is safe with few side effects and cost effectiveness. Further studies are needed to better understand the immunology and pathogenesis of GA.

背景:环形肉芽肿(GA)是一种良性皮肤病,临床上有四种变异,包括局部、全身、穿孔和皮下肉芽肿。最常见的是局部遗传算法,其次是广义遗传算法。广泛性GA定义为至少10种广泛分布的环状鼠疫,常发生在躯干、面部、颈部和四肢。经临床及组织病理学诊断。广泛性GA难以治疗。案例演示。我们提出了一个泰国妇女无鳞片环形丘疹和斑块在躯干和四肢。皮肤活检显示病变与环形肉芽肿一致。患者在2个月的疗程中口服griseofluvin,每日500mg,部分缓解。讨论。GA对口服灰黄霉素反应的消退与炎症性质一致,这表明ifn - γ在GA中上调。结论:灰黄霉素安全性好,副作用少,成本效益高。需要进一步研究以更好地了解GA的免疫学和发病机制。
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引用次数: 0
Aggressive Acute Marjolin's Ulcer Arising in a Burn Scar. 烧伤瘢痕引起的侵袭性急性马氏溃疡。
Q3 Medicine Pub Date : 2022-11-08 eCollection Date: 2022-01-01 DOI: 10.1155/2022/8329050
Adela Alvarez Rio, Josep Oriol Roca Mas, Daniel Navarro Sanchez, Ivan Monge Castresana, Gonzalo Joaquin Soroa Moreno, Jaime Estrada Cuxart

Marjolin's ulcer is one of the clinical variants of squamous-cell carcinoma. It is a highly aggressive disease that develops from chronic wounds. Almost 65% of these lesions have been diagnosed on underlying burn scars. Although the mean latency time between the primary lesion and the apparition of the ulcer is around 25 years, some cases with an early debut have been described. Squamous-cell carcinomas arising in chronic wounds are typically aggressive and are related with a poor prognosis due to their late diagnosis. Therefore, it is important to recognize symptoms that indicate malignant degeneration of chronic wounds, allowing the clinician to make an early diagnosis in order not to delay the surgical treatment that is required to improve the global survival of the patient. The time elapsed between our patient's burn and the appearance of Marjolin's ulcer was only 7 months, drawing attention to its fast and aggressive progression.

马卓林溃疡是鳞状细胞癌的临床变种之一。这是一种由慢性伤口发展而来的高度侵袭性疾病。几乎65%的这些病变被诊断为潜在的烧伤疤痕。虽然原发性病变和溃疡出现之间的平均潜伏期约为25年,但一些早期出现的病例已被描述。慢性伤口中出现的鳞状细胞癌通常具有侵袭性,由于诊断较晚,预后较差。因此,重要的是要识别慢性伤口恶性变性的症状,使临床医生能够做出早期诊断,以避免延迟手术治疗,这是提高患者整体生存率所必需的。从患者的烧伤到出现马卓林溃疡的时间仅为7个月,引起了人们对其快速和侵袭性进展的注意。
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引用次数: 1
Amelanotic Melanoma Treated as Fungal Infection for Years. 无色素黑色素瘤作为真菌感染治疗多年。
Q3 Medicine Pub Date : 2022-11-07 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2598965
Guilherme Kuceki, Dekker C Deacon, Aaron M Secrest

This study describes a case of amelanotic lentigo maligna melanoma in a 69-year-old female that had been growing for approximately 5 years. The asymptomatic lesion had been previously diagnosed and treated as a fungal skin infection, an inflammatory rash, and an actinic keratosis that did not respond to standard treatments. Biopsy revealed confluent and nested atypical melanocytes at the dermal-epidermal junction, consistent with melanoma in situ. Excisional biopsy revealed invasive lentigo maligna melanoma, Breslow depth 0.3 mm, with positive melanoma in situ at margins. She is now 3 years post-Mohs surgery without recurrence. When working up a patient with a hypopigmented or inflammatory lesion not responding to standard therapies, physicians should always consider biopsy to rule out unusual neoplastic etiologies, such as amelanotic melanomas.

本研究描述了一个69岁女性的无色素色素体恶性黑色素瘤,已经生长了大约5年。该无症状病变曾被诊断为真菌性皮肤感染、炎症性皮疹和对标准治疗无效的光化性角化病。活检显示真皮-表皮交界处有融合和巢状的非典型黑色素细胞,与原位黑色素瘤一致。切除活检显示浸润性透镜状恶性黑色素瘤,Breslow深度0.3 mm,边缘原位黑色素瘤阳性。术后3年无复发。当对标准治疗无效的低色素或炎性病变进行检查时,医生应考虑活检以排除不寻常的肿瘤病因,如无色素黑色素瘤。
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引用次数: 1
Giant Dermatofibroma: A Rare Presentation as a Large Scaly Plaque. 巨大皮肤纤维瘤:一种罕见的大鳞状斑块。
Q3 Medicine Pub Date : 2022-10-26 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2542404
T Iqbal, V Mudaliar

A rare form of dermatofibroma (DF) is described in the literature as giant dermatofibroma. Due to the rarity and distinct presentation that can be confused with more sinister skin tumours, these can cause diagnostic uncertainty and require clinicopathologic correlation. Familiarity with this rare presentation of an otherwise common entity is required to prevent unnecessary clinical doubt and excessive interventions. We report a case of giant dermatofibroma on the leg of a 29-year-old healthy male that presented with a 7 cm, nonulcerated pink, brown plaque, adding to the limited literature of less than 30 known cases.

一种罕见的皮肤纤维瘤(DF)在文献中被描述为巨大的皮肤纤维瘤。由于罕见和独特的表现,可能与更险恶的皮肤肿瘤混淆,这些可能导致诊断不确定性,需要临床病理相关性。熟悉这种罕见的其他常见实体的表现是必要的,以防止不必要的临床怀疑和过度干预。我们报告一例29岁健康男性腿部的巨大皮肤纤维瘤,表现为7厘米,无溃疡的粉红色,棕色斑块,增加了不足30例已知病例的有限文献。
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引用次数: 0
New-Onset Lichen Planus Induced by the Pfizer COVID-19 Vaccine. 新冠肺炎疫苗致新发扁平苔藓的研究
Q3 Medicine Pub Date : 2022-09-17 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2082445
Fadi A Alghamdi, Shahad T Khayyat, Mohammed M Alshareef, Wala'a Felemban

Objective: Coronavirus disease 2019 (COVID-19) vaccine distribution continues to expand; however, increased cutaneous reactions have been reported. Several recent studies suggest a link between COVID-19 vaccination and the development of various cutaneous complications. Lichen planus is a chronic, immune-mediated, inflammatory dermatological illness with an unclear etiology. In this case report, we assessed the relationship between COVID-19 vaccination (Pfizer) and lichen planus diagnosis and evaluated the link between additional doses of the vaccine and disease progression.

Methods: Complete clinical, laboratory, and histopathological assessment of a patient was performed with ethical and privacy considerations. Written informed consent for all clinical data, images, and publication was obtained from the patient.

Results: New-onset lichen planus appeared 48 hours after the first dose of the Pfizer vaccine. The symptoms worsened following the second dose. The patient responded gradually to topical corticosteroids, and lichen planus was controlled within 21 days.

Conclusion: Our case significantly contributes to the literature by highlighting that additional doses of the Pfizer vaccine can contribute to disease progression. Therefore, reporting the patient's condition associated with COVID-19 vaccination should be considered. Future studies should be performed to investigate the combined onset of lichen planus and multisystem COVID-19 vaccine-related complications.

目的:2019冠状病毒病(COVID-19)疫苗分发继续扩大;然而,有报道称皮肤反应增加。最近的几项研究表明,COVID-19疫苗接种与各种皮肤并发症的发生之间存在联系。扁平苔藓是一种慢性、免疫介导的炎症性皮肤病,病因不明。在本病例报告中,我们评估了COVID-19疫苗接种(辉瑞)与扁平苔藓诊断之间的关系,并评估了额外剂量疫苗与疾病进展之间的联系。方法:对患者进行完整的临床、实验室和组织病理学评估,并考虑伦理和隐私。所有临床数据、图像和出版物均获得患者的书面知情同意。结果:首次接种后48小时出现新发扁平苔藓。第二次注射后症状恶化。患者对局部皮质类固醇逐渐有反应,扁平苔藓在21天内得到控制。结论:我们的病例通过强调额外剂量的辉瑞疫苗可以促进疾病进展,对文献做出了重大贡献。因此,应考虑报告与COVID-19疫苗接种相关的患者病情。未来的研究应进一步调查扁平苔藓和多系统COVID-19疫苗相关并发症的合并发病情况。
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引用次数: 2
Interstitial Mycosis Fungoides: An Unusual Mimic of Interstitial Granuloma Annulare Not to Miss. 间质性蕈样真菌病:一种不寻常的间质性肉芽肿的模拟物。
Q3 Medicine Pub Date : 2022-09-05 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3506738
Neha Singh, Kiley K Fagan, Douglas J Grider

Interstitial mycosis fungoides is a rare histopathologic variant of mycosis fungoides that may resemble interstitial granuloma annulare, inflammatory morphea, and interstitial granulomatous dermatitis. Reported is a case of a 62-year-old African American female who presented with an asymptomatic, progressive rash of the left underarm and abdomen with histologic features suggestive of granuloma annulare. Biopsies revealed an interstitial pattern of cells in the dermis with prominent small aggregates of atypical lymphocytes, a few atypical lymphocytes in the lower epidermis, and a mild increase in dermal mucin. Immunohistochemistry staining revealed the atypical lymphocytes to be positive for CD3 and CD8 and negative for CD4 and CD7, an aberrant immunoprofile. Mixed in the dermis with the atypical lymphoid cells were a few CD68 positive histiocytes and S100 protein positive dermal dendritic cells. T-cell receptor beta gene rearrangement studies showed nearly the same clonal peaks for TCRB rearrangement in two biopsy specimens from separate sites, all supporting a diagnosis of interstitial mycosis fungoides. The patient is undergoing treatment with full body narrowband UVB (nbUVB) phototherapy with notable improvement in skin discoloration and resolution of several abdominal lesions. A diagnosis of interstitial mycosis fungoides is challenging to make based on clinical features alone and is often clinically misdiagnosed. Awareness of histopathologic features is critical to make an accurate diagnosis and thus patient management.

间质性蕈样真菌病是一种罕见的蕈样真菌病的组织病理学变异,它可能类似于间质性肉芽肿、环状肉芽肿和间质性肉芽肿性皮炎。报告一例62岁的非裔美国女性,其表现为无症状,左腋下和腹部的进行性皮疹,组织学特征提示环状肉芽肿。活组织检查显示真皮细胞间质型,有明显的非典型淋巴细胞小聚集,下表皮有少量非典型淋巴细胞,真皮粘蛋白轻度增加。免疫组化染色显示非典型淋巴细胞CD3和CD8阳性,CD4和CD7阴性,免疫谱异常。真皮与非典型淋巴样细胞混合有少量CD68阳性的组织细胞和S100蛋白阳性的真皮树突状细胞。t细胞受体β基因重排研究显示,在两个不同部位的活检标本中,TCRB重排的克隆峰几乎相同,所有这些都支持间质性蕈样真菌病的诊断。患者正在接受全身窄带UVB (nbUVB)光疗,皮肤变色明显改善,几个腹部病变消退。蕈样间质性真菌病的诊断是具有挑战性的,仅根据临床特征,并经常被误诊。组织病理学特征的认识是至关重要的作出准确的诊断,从而病人的管理。
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引用次数: 1
Coexistence of Pemphigus Vulgaris and Lichen Planus following COVID-19 Vaccination. COVID-19疫苗接种后寻常型天疱疮和扁平苔藓的共存。
Q3 Medicine Pub Date : 2022-08-28 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2324212
Zeinab Aryanian, Kamran Balighi, Arghavan Azizpour, Kambiz Kamyab Hesari, Parvaneh Hatami

SARS-CoV-2 vaccines were approved without long-term monitoring due to emergent situation and might have several side effects. Herein, we describe the first case with development of both LP and PV following COVID-19 vaccination. Immunological alteration due to COVID-19 vaccination and its potential role in triggering autoimmune disorders were also dealt with.

由于紧急情况,SARS-CoV-2疫苗在没有长期监测的情况下获得批准,可能有一些副作用。在此,我们描述了第一例在COVID-19疫苗接种后并发LP和PV的病例。COVID-19疫苗引起的免疫改变及其在触发自身免疫性疾病中的潜在作用也得到了处理。
{"title":"Coexistence of Pemphigus Vulgaris and Lichen Planus following COVID-19 Vaccination.","authors":"Zeinab Aryanian,&nbsp;Kamran Balighi,&nbsp;Arghavan Azizpour,&nbsp;Kambiz Kamyab Hesari,&nbsp;Parvaneh Hatami","doi":"10.1155/2022/2324212","DOIUrl":"https://doi.org/10.1155/2022/2324212","url":null,"abstract":"<p><p>SARS-CoV-2 vaccines were approved without long-term monitoring due to emergent situation and might have several side effects. Herein, we describe the first case with development of both LP and PV following COVID-19 vaccination. Immunological alteration due to COVID-19 vaccination and its potential role in triggering autoimmune disorders were also dealt with.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":" ","pages":"2324212"},"PeriodicalIF":0.0,"publicationDate":"2022-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33448951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Pityriasis Versicolor Resistant to Antifungal Drugs in a Patient in Lomé (Togo). 多哥洛莫雷市1例花斑糠疹抗真菌药物耐药。
Q3 Medicine Pub Date : 2022-08-22 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5404913
Julienne Teclessou, Koussake Kombate, Bayaki Saka, Séfako Abla Akakpo, Palokinam Pitche

Background: Pityriasis versicolor (PV) is a ubiquitous superficial skin mycosis that often affects young adults. It is often effectively treated with local or oral antifungal agents. Cases of PV resistance to antifungal agents have been reported rarely. We report a case of antifungal resistant PV. Observation. A 22-year-old patient was followed since the age of 17 years in a dermatology outpatient clinic for hyperpigmented scaly macular lesions of the trunk and upper limbs. The clinical diagnosis of PV was retained. The patient was treated by fluconazole 300 mg/week before being lost to follow-up. He was seen again in 2019 (about 2 years later) for the same symptomatology and treated again by fluconazole and ciclopirox olamine cream without improvement. He was again lost to follow-up and seen again six months later. A mycological sample was taken and Aspergillus niger was isolated. The patient was treated by itraconazole for 6 weeks. The evolution was marked by a clinical status quo. The patient was again put on salicylated petroleum jelly 10% associated with terbinafine cream and then lost to follow-up.

Conclusion: The emergence of fungal resistance to antifungal drugs does not spare PV. It can therefore be resistant to several antifungal drugs, leaving clinicians and patients in despair.

背景:花斑糠疹(PV)是一种普遍存在的浅表皮肤真菌病,常影响年轻人。通常用局部或口服抗真菌药物有效治疗。PV对抗真菌药物耐药的病例报道很少。我们报告一例抗真菌PV。观察。一位22岁的患者因躯干和上肢色素沉着的鳞状黄斑病变在皮肤科门诊随访了17年。保留PV的临床诊断。患者给予氟康唑300 mg/周治疗,失访。2019年(约2年后)因相同症状再次就诊,再次使用氟康唑和环匹罗胺乳膏治疗,未见改善。他再次失去了随访,六个月后又见到了他。采集真菌学标本,分离出黑曲霉。伊曲康唑治疗6周。这一演变以临床现状为标志。患者再次涂抹10%水杨酸凡士林和特比萘芬乳膏,然后失去随访。结论:真菌对抗真菌药物耐药的出现并不能使PV幸免。因此,它可以对几种抗真菌药物产生抗药性,使临床医生和患者感到绝望。
{"title":"Pityriasis Versicolor Resistant to Antifungal Drugs in a Patient in Lomé (Togo).","authors":"Julienne Teclessou,&nbsp;Koussake Kombate,&nbsp;Bayaki Saka,&nbsp;Séfako Abla Akakpo,&nbsp;Palokinam Pitche","doi":"10.1155/2022/5404913","DOIUrl":"https://doi.org/10.1155/2022/5404913","url":null,"abstract":"<p><strong>Background: </strong>Pityriasis versicolor (PV) is a ubiquitous superficial skin mycosis that often affects young adults. It is often effectively treated with local or oral antifungal agents. Cases of PV resistance to antifungal agents have been reported rarely. We report a case of antifungal resistant PV. <i>Observation</i>. A 22-year-old patient was followed since the age of 17 years in a dermatology outpatient clinic for hyperpigmented scaly macular lesions of the trunk and upper limbs. The clinical diagnosis of PV was retained. The patient was treated by fluconazole 300 mg/week before being lost to follow-up. He was seen again in 2019 (about 2 years later) for the same symptomatology and treated again by fluconazole and ciclopirox olamine cream without improvement. He was again lost to follow-up and seen again six months later. A mycological sample was taken and <i>Aspergillus niger</i> was isolated. The patient was treated by itraconazole for 6 weeks. The evolution was marked by a clinical status quo. The patient was again put on salicylated petroleum jelly 10% associated with terbinafine cream and then lost to follow-up.</p><p><strong>Conclusion: </strong>The emergence of fungal resistance to antifungal drugs does not spare PV. It can therefore be resistant to several antifungal drugs, leaving clinicians and patients in despair.</p>","PeriodicalId":9630,"journal":{"name":"Case Reports in Dermatological Medicine","volume":" ","pages":"5404913"},"PeriodicalIF":0.0,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40332472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nasolabial Ulcerated Placard Revealing a Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma. 鼻唇溃疡牌显示原发性皮肤侵袭性表皮性CD8+ t细胞淋巴瘤。
Q3 Medicine Pub Date : 2022-08-09 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5672783
J B Ntihebuwayo, F Hali, A Kerouach, H Rachadi, S Chiheb, F Marnissi

Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare entity representing less than 1% of cutaneous lymphomas. It has an aggressive clinical manifestation with a poor prognosis. It is characterized by cytotoxic and epidermotropic CD8+ proliferation. It also expresses the TIA-1 marker. We report a new case for its display and aggressive character, diagnostic difficulty, and good therapeutic response to chemotherapy. This is a 62-year-old female patient admitted to the hospital for a nasolabial ulcerated placard evolving for two years. Clinical examination revealed submandibular lymph nodes. The specimen analysis associated with anatomoclinical manifestation was concluded for a primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma. Tumor extent assessment did not show any secondary localization. The blood tests and serology were unremarkable. The patient had benefited from a CHOEP-type multidrug therapy protocol with complete healing of the lesion after three courses of chemotherapy.

原发性皮肤侵袭性表皮性CD8+ t细胞淋巴瘤是一种罕见的实体,占皮肤淋巴瘤的不到1%。它具有侵袭性临床表现,预后差。其特点是细胞毒性和表皮性CD8+增殖。它也表达TIA-1标记物。我们报告一个新病例的表现和侵袭性,诊断困难,和良好的治疗反应,化疗。这是一名62岁的女性患者,因鼻唇溃疡而住院两年。临床检查发现下颌下淋巴结。标本分析与解剖临床表现相结合,结论为原发性皮肤侵袭性表皮性CD8+ t细胞淋巴瘤。肿瘤范围评估未发现继发定位。血液检查和血清学检查均无异常。患者受益于choep型多药治疗方案,经过三个疗程的化疗,病变完全愈合。
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引用次数: 0
期刊
Case Reports in Dermatological Medicine
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