Rare skin disease

罕见皮肤病
  • 文章类型: Case Reports
    颈部白色纤维丘疹病(WFPN)通过大量固体的存在表现出来,持久性,和无症状的黄白色丘疹,表现出明显的不对称分布,主要位于颈部和肘前窝。该病例报告描述了一名70岁女性被诊断为WFPN的临床表现,在组织病理学分析中突出了胶原纤维增厚的重要发现。尽管它偏爱特定的解剖部位,WFPN难以捉摸的发病机制增加了诊断的复杂性,强调需要在这种通常遵循良性过程的独特条件下进行进一步研究。
    White fibrous papulosis of the neck (WFPN) manifests through the presence of numerous solid, persistent, and asymptomatic yellowish-white papules, displaying a distinctive asymmetrical distribution primarily localized on the neck and antecubital fossa. This case report describes the clinical presentation of a 70-year-old female diagnosed with WFPN, highlighting the significant finding of collagen fiber thickening upon histopathological analysis. Despite its predilection for specific anatomical sites, the elusive pathogenesis of WFPN adds diagnostic complexity, emphasizing the need for further research in this unique condition that generally follows a benign course.
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  • 文章类型: Case Reports
    色素性扁平苔藓(LPP)是一种罕见的扁平苔藓,通常会影响皮肤较黑的中年人。与经典扁平苔藓相比,LPP与更长的临床病程有关,这在临床上是有区别的。它在儿童中的发生并不常见,在文献中很少报道该人群的病例。我们报告了一名7岁的沙特阿拉伯女性患者中罕见的单侧BlaschkoidLPP。
    Lichen planus pigmentosus (LPP) is a rare form of lichen planus that typically affects middle-aged people with darker-pigmented skin. LPP is associated with a longer clinical course than classical lichen planus, which distinguishes it clinically. Its occurrence in children is uncommon, with few reported cases in this population in the literature. We report a rare presentation of unilateral blaschkoid LPP in a seven-year-old Saudi Arabian female patient.
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  • 文章类型: Case Reports
    ErdheimChester病(ECD)是一种罕见且复杂的非朗格汉斯组织细胞系统疾病,可影响多器官系统,包括骨头,心,肺,和中枢神经系统。医学文献中报道的病例不到1,000例,该病的皮肤病学表现很少见,但可以为这种具有挑战性的疾病提供有价值的诊断线索。ECD的皮肤表现可以采取多种形式,包括结节,斑块,丘疹,和黄色瘤.这些病变可发生在身体的任何部位,可能是单发或多发。据报道,多达20%的病例发生ECD的皮肤表现,但是真正的患病率可能更高,因为许多病例可能无法确诊。我们介绍了一名62岁的绅士,该绅士目前在vemurafenib上有ECD病史,他在局部麻醉下进行切除活检后,背部出现了多个无痛皮下结节,揭示了ECD的组织学特征。本病例报告的目的是提高对ECD及其皮肤病学表现的认识。需要进一步的研究以更好地了解ECD中皮肤受累的发病机理和形态。
    Erdheim Chester disease (ECD) is a rare and complex non-Langerhans histiocytic systemic disease that affects multiple organ systems, including the bones, heart, lungs, and central nervous system. Fewer than 1,000 cases have been reported in the medical literature and dermatological manifestations of the disease are rare but can provide valuable diagnostic clues for this challenging disease. The cutaneous manifestations of ECD can take many forms, including nodules, plaques, papules, and xanthomas. These lesions can occur on any part of the body and may be solitary or multiple. Cutaneous manifestations of ECD have been reported to occur in up to 20% of cases, but the true prevalence may be higher, as many cases may go undiagnosed. We present the case of a 62-year-old gentleman with a history of ECD currently on vemurafenib who presented with multiple painless subcutaneous nodules on his back after an excision biopsy under local anesthetic revealed histological features of ECD. The objective of this case report is to raise awareness of ECD and its dermatological manifestations. Further research is warranted to better understand the pathogenesis and morphology of cutaneous involvement in ECD.
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  • 文章类型: Case Reports
    着色性干皮病(XP)是一种罕见的常染色体隐性遗传病理,影响核苷酸切除对紫外线辐射的修复。这导致发展眼科的倾向增加,神经学,以及细胞更新增加的皮肤状况。该病例报道了一名8岁印度男性的XP晚期表现,伴有转移性鳞状细胞癌(SCC)和感染性休克。静脉输液和广谱抗生素的应急管理并未显示出生命体征的改善。紧急的手术清创和肿瘤切除未能提高实验室价值。术后白细胞增多伴发热,需要将患者转移到超级专业肿瘤科。这种不良表现常见于XP相关的浸润性鳞状细胞癌。预防性管理需要早期识别和涉及皮肤科医生的多学科方法,眼科医生,还有外科医生.晚期表现围绕着通过严格的清创和化疗以及定期监测来控制疾病过程,因为即使在切除和化疗后,病变也会复发。
    Xeroderma pigmentosum (XP) is a rare autosomal recessive pathology affecting nucleotide excision repair against ultraviolet radiation. This leads to an increased predisposition to developing ophthalmological, neurological, and cutaneous conditions with an increased cell turnover. This case reports a late presentation of XP presenting with metastatic squamous cell carcinoma (SCC) and septic shock in an eight-year-old Indian male. Emergency management with IV fluid boluses and broad-spectrum antibiotics showed no improvement in vitals. Urgent surgical debridement and tumor debulking failed to improve laboratory values. Postoperative leukocytosis with fever spikes warranted the need to transfer the patient to a super-specialty oncology unit. Such an adverse presentation is commonly seen in XP-related invasive squamous cell carcinoma. Preventive management requires early identification and a multidisciplinary approach involving dermatologists, ophthalmologists, and surgeons. Late presentations revolve around control of the disease process by sharp debridement and chemotherapy with regular surveillance as the lesions tend to reoccur even after excision and chemotherapy.
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  • 文章类型: Case Reports
    颈部白色纤维丘疹病是一种罕见的实体,具有良性病程和未知的发病机制。它的临床特征是坚硬的外观,持久性,通常无症状,位于颈部的非滤泡丘疹。我们介绍了一名72岁的患者,该患者在颈部出现瘙痒性病变,其活检与该实体兼容。
    White fibrous papulosis of the neck is a rare entity, with a benign course and unknown pathogenesis. It is clinically characterized by the appearance of firm, persistent, usually asymptomatic, non-follicular papules located on the neck. We present the case of a 72-year-old patient who presented pruritic lesions on the neck whose biopsy was compatible with this entity.
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  • 文章类型: Case Reports
    Morphea,也被称为局限性硬皮病,是一种罕见的特发性炎症性疾病,导致皮肤硬化斑块的发展。该疾病优先影响女性。该病的发病机制尚不清楚。该疾病可能具有自身免疫基础;环境和遗传因素也可能在其病因中起作用。Morphea具有多种临床表现。硬叶的病变通常以炎症斑块或斑块开始,演变成坚固的硬化病变。参与可能限于真皮或可能延伸到潜在的皮下脂肪,肌肉,或者骨头。特征性临床发现的鉴定通常足以诊断硬伤。当诊断有问题或获得有关疾病深度和强度的信息时,活检可能是有用的工具,它应该总是至少延伸到皮下脂肪中。麻风病可引起关节挛缩和其他继发于组织硬化的损伤,并且可在美容和功能上非常衰弱。
    Morphea, also known as localized scleroderma, is an uncommon idiopathic inflammatory disorder leading to the development of sclerotic plaques in the skin. The disorder preferentially affects females. The pathogenesis of morphea is not well-understood. The disorder is likely to have an autoimmune basis; environmental and genetic factors may also play a role in its etiology. Morphea has a variety of clinical presentations. Lesions of morphea typically begin as inflammatory plaques or patches that evolve into firm sclerotic lesions. Involvement may be limited to the dermis or may extend to underlying subcutaneous fat, muscle, or bone. The identification of characteristic clinical findings is often sufficient for the diagnosis of morphea. A biopsy can be a useful tool when the diagnosis is in question or to obtain information on the depth and intensity of the disease, and it should always extend at least into the subcutaneous fat. Morphea may cause joint contractures and other impairments secondary to tissue sclerosis and can be very debilitating cosmetically and functionally.
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