Palmoplantar keratoderma

掌足底角化病
  • 文章类型: English Abstract
    本文讨论了初级卫生保健(PHC)范围内的掌plant皮肤病(PPD)的诊断挑战。这些常见的皮肤状况,在日常实践中遇到,表现出各种各样的症状和形态,使他们的诊断复杂化。它们在病因学上分为感染性炎症,非感染性炎症,和遗传性角膜炎.虽然各种皮肤病可能会影响手掌和脚底,很少有人专门针对这个领域。值得注意的例子包括掌plant脓疱病,汗肿,Pernio红斑,和Bazex综合征.鉴于PHC皮肤科咨询的患病率很高,这篇文章强调了PHC专业人士关于这些条件的知识的重要性。它提出了一种诊断算法,以方便他们的管理和及时转诊。
    This article addresses the diagnostic challenges of palmoplantar dermatoses (PPD) within the scope of Primary Health Care (PHC). These common skin conditions, encountered in daily practice, exhibit a diverse range of symptoms and morphologies, complicating their diagnosis. They are etiologically classified into infectious inflammatory, non-infectious inflammatory, and hereditary keratodermas. While various dermatoses may affect the palms and soles, few are specific to this area. Notable examples include palmoplantar pustulosis, dyshidrosis, erythema pernio, and Bazex syndrome. Given the high prevalence of dermatological consultations in PHC, this article underscores the significance of PHC professionals\' knowledge regarding these conditions. It proposes a diagnostic algorithm to facilitate their management and timely referral.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    暂无摘要。
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    Nagashima型掌plant角膜皮病(NPPK)是由SERPINB7功能丧失变异引起的常染色体隐性遗传病,是亚洲人遗传性掌plant角膜皮病的最普遍形式。然而,目前尚无有效的NPPK治疗方法,因为其发病机制尚不清楚.在这项研究中,Serpinb7-/-小鼠产生并自发形成破坏的皮肤屏障,丙酮-乙醚-水处理进一步加剧了这种情况。这些Serpinb7-/-小鼠的皮肤显示出减弱的细胞骨架蛋白。此外,在三维人类表皮模型中,SERPINB7缺乏始终导致表皮分化降低。我们还证明了SERPINB7是主要抑制蛋白酶legumain的抑制性serpin。SERPINB7在体外和体内直接与豆蔻素结合并抑制豆蔻素活性。此外,我们发现SERPINB7以“蛋白酶-底物”方式抑制legumain,并将SERPINB7的切割位点鉴定为Asn71和Asn343。总的来说,我们发现SERPINB7显示了半胱氨酸蛋白酶抑制剂的性质,并鉴定了生豆素是SERPINB7的关键靶蛋白酶。SERPINB7功能的丧失导致了豆素的过度激活,这可能会破坏细胞骨架蛋白,导致NPPK皮肤屏障受损。这些发现可能导致NPPK治疗策略的发展。
    Nagashima-type palmoplantar keratoderma (NPPK) is an autosomal recessive genodermatosis caused by loss-of-function variants in SERPINB7 and is the most prevalent form of inherited palmoplantar keratodermas among Asians. However, there is currently no effective therapy for NPPK because its pathogenesis remains unclear. In this study, Serpinb7-/- mice were generated and spontaneously developed a disrupted skin barrier, which was further exacerbated by acetone-ether-water treatment. The skin of these Serpinb7-/- mice showed weakened cytoskeletal proteins. Additionally, SERPINB7 deficiency consistently led to decreased epidermal differentiation in a three-dimensional human epidermal model. We also demonstrated that SERPINB7 was an inhibitory serpin that mainly inhibited the protease legumain. SERPINB7 bound directly with legumain and inhibited legumain activity both in vitro and in vivo. Furthermore, we found that SERPINB7 inhibited legumain in a \'protease-substrate\' manner and identified the cleavage sites of SERPINB7 as Asn71 and Asn343. Overall, we found that SERPINB7 showed the nature of a cysteine protease inhibitor, and identified legumain as a key target protease of SERPINB7. Loss of SERPINB7 function led to overactivation of legumain, which might disrupt cytoskeletal proteins, contributing to the impaired skin barrier in NPPK. These findings may lead to the development of therapeutic strategies for NPPK.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    MalDeMeleda是一种罕见的遗传性疾病,其特征是掌plant角化症,经常在诊断和管理方面提出挑战。此病例报告讨论了一名18岁男性,表现为增厚,手掌和脚底都有淡黄色的皮肤,伴有瘙痒和开裂。通过临床和组织病理学检查确定了MalDeMeleda的移行变体的诊断。口服阿维A和局部保湿剂的治疗导致了显著的改善。本报告强调了识别掌plant角化病的罕见变异的重要性,以及对诊断和管理的多学科方法的需求。
    Mal De Meleda is a rare genetic disorder characterized by palmoplantar keratoderma, often presenting challenges in diagnosis and management. This case report discusses an 18-year-old male presenting with thickened, yellowish skin on both palms and soles, accompanied by itching and cracking. A diagnosis of the transgradiens variant of Mal De Meleda was established through clinical and histopathological examination. Treatment with oral acitretin and topical moisturizers resulted in significant improvement. This report highlights the importance of recognizing rare variants of palmoplantar keratoderma and the need for a multidisciplinary approach to diagnosis and management.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    结痂是一种罕见的寄生虫感染形式,是由人皮肤上的体外寄生虫Sarcoptesscabieivarietashominis引起的。这是一种极具传染性的疾病,甚至可能导致社会耻辱。在像希腊这样的欧洲国家,许多病例长期得不到诊断,在患者的日常生活和社会环境中造成极度痛苦。
    这里,我们在希腊介绍了一个86岁的女人结痂的病例,5个月仍未确诊。四肢上大量的过度角化斑块,和脸,掌plant角化病,患者的主要临床表现是躯干上大量的小红斑丘疹,并伴有极度瘙痒。皮肤镜检查显示寄生虫。人员采取了所有必要的净化措施。给予治疗并观察到疾病的完全治愈。
    在这种情况下,皮肤镜检查的使用归因于对患者进行精确的结痂诊断和急性药物治疗。此类疾病的早期诊断不仅使患者免于致命的继发感染,而且还降低了大规模sc疮爆发的风险。我们还进行了一次小型审查,分析所有近期有关结痂的宏观数据,皮肤镜,和组织学图像。所有关于结痂表现的病理生理机制的新信息,更新的治疗方案,提供了对广泛使用的治疗的潜在抗性。
    UNASSIGNED: Crusted scabies is a rare form of parasitic infection provoked by a massive infestation of the ectoparasite Sarcoptes scabiei varietas hominis on human skin. It is an extremely contagious type of disease and can even lead to a social stigma. In European countries like Greece, many cases remain undiagnosed for long periods, causing extreme distress in the patient\'s everyday life and social environment.
    UNASSIGNED: Herein, we present a case of an 86-year-old woman with crusted scabies in Greece, who remained undiagnosed for 5 months. Massive hyperkeratotic plaques on the extremities, and face, palmoplantar keratoderma, and numerous small erythematous papules on the torso with extreme itch were the main clinical manifestations of the patient. Dermoscopy revealed the parasite. All necessary decontamination measures were taken by personnel. Treatment was administered and a complete cure of the disease was observed.
    UNASSIGNED: In this case, the use of dermoscopy has attributed to precise crusted scabies diagnosis and acute pharmacological management of the patient. Early diagnosis of such diseases not only saves patients from lethal secondary infections, but also reduces the risk of a massive scabies outbreak. We also conducted a mini-review, analyzing all recent data concerning crusted scabies macroscopic, dermatoscopic, and histological images. All new information concerning the pathophysiological mechanism of crusted scabies manifestation, updated treatment options, and potential resistance to widely-used treatments are provided.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    重叠综合征是一项临床挑战,为治疗医师带来了广泛的治疗选择。解决患者的每一个投诉至关重要。一名50岁的女性患者出现皮肤增厚,变黑,角化过度;吞咽困难;关节痛;肌病的特征;雷诺现象;和口干。炎症标志物随着高尔基体模式的抗核抗体(ANA)阳性而升高,抗干燥综合征相关抗原A(抗SSA)/Ro603+,抗SSA/Ro523+,和提示重叠综合征的抗PM/Scl2+抗体。尽管患者没有呼吸道疾病,在评估过程中发现了一种独特的间质性肺病(ILD)模式.皮肤表现令人费解,但对来自两个不同部位的皮肤活检的组织病理学分析显示了皮肤狼疮和皮肌炎的显著特征。用羟氯喹治疗,毛果芸香碱,硝苯地平,甲氨蝶呤,和外用他克莫司在临床特征上产生了显著的改善。此病例突出了不同自身免疫性疾病的微妙和花哨的特征。角化过度的皮肤变化是最显著的特征,但整个评估过程揭示了已知自身免疫性疾病的许多罕见表现,这些表现可以为我们对结缔组织疾病(CTDs)的新认识领域打开大门.我们的病例报告显示了ANA模式的显著异质性,ILD模式,临床表现,和治疗方法。
    Overlap syndrome is a clinical challenge and brings together a wide range of treatment options for the treating physician. Addressing each and every complaint of the patient is crucial. A 50-year-old female patient presented with skin thickening, blackening, and hyperkeratosis; dysphagia; joint pain; features of myopathy; Raynaud\'s phenomenon; and dry mouth. Inflammatory markers were raised along with a positive antinuclear antibody (ANA) with Golgi apparatus pattern, anti-Sjögren\'s-syndrome-related antigen A (anti-SSA)/Ro60 3+, anti-SSA/Ro52 3+, and anti-PM/Scl 2+ antibodies that suggested overlap syndrome. Although the patient had no respiratory complaints, a unique interstitial lung disease (ILD) pattern was noted during the evaluation. Skin manifestations were puzzling, but the histopathology analyses of skin biopsies taken from two different sites revealed distinguishing features of cutaneous lupus and dermatomyositis. Treatment with hydroxychloroquine, pilocarpine, nifedipine, methotrexate, and topical tacrolimus produced a dramatic improvement in the clinical features. This case highlights subtle and florid features of different autoimmune diseases. The hyperkeratotic skin changes were the most striking feature, but the whole evaluation process unveiled many rare presentations of known autoimmune conditions that can open doors to new areas of our understanding toward connective tissue diseases (CTDs). Our case report demonstrates significant heterogeneity in the ANA patterns, ILD patterns, clinical manifestations, and treatment approaches.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Letter
    暂无摘要。
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:皮肤病超出了身体症状,深刻影响患者的心理健康。这项研究探讨了抑郁症状之间的复杂关系,生活质量(QoL),以及被诊断患有特定遗传病的个体的个性特征。方法:研究队列包括在皮肤科诊所接受治疗的30例遗传性皮肤病患者,和一个健康的对照组。标准化调查问卷:皮肤病生活质量指数(DLQI),贝克的抑郁量表(BDI),和NEO五因素清单(NEO-FFI)用于评估。结果:研究结果表明,与匹配的对照组相比,研究组QoL严重或非常严重降低的风险显着升高(OR=22.2,95%CI:2.7-184.8)。具体来说,与对照组相比,鱼鳞病患者QoL下降的风险高出131倍.此外,研究组的抑郁症患病率高于对照组(36.7%vs.10%;p=0.0086)。详细分析显示,与高同意者相比,低同意者或平均同意者表现出明显更高的抑郁症发生率(100%或75%与28.6%;p=0.0400)。同样,与具有平均或低水平神经质的人相比,具有高神经质的人的抑郁症发病率明显更高(比率:66.7%vs.9.1%或0%,分别为;p=0.0067)。结论:该研究强调了遗传性皮肤病与受影响个体的心理健康之间的实质性相关性,强调在遗传性皮肤病的治疗中必须考虑心理因素。我们研究的主要局限性是样本量小,源于由于所研究条件的罕见性质而导致招募参与者的困难。
    Background: Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in individuals diagnosed with specific genodermatoses. Methods: The study cohort comprised 30 patients with genodermatoses treated at the dermatology clinic, and a healthy control group. Standardized survey questionnaires: The Dermatology Life Quality Index (DLQI), Beck\'s Depression Inventory (BDI), and NEO Five-Factor Inventory (NEO-FFI) were employed for assessments. Results: The findings indicate a significantly elevated risk of severely or very severely reduced QoL in the study group compared to matched controls (OR = 22.2, 95% CI: 2.7-184.8). Specifically, individuals with ichthyosis exhibited a staggering 131-fold higher risk of diminished QoL compared to the control group. Furthermore, the prevalence of depression was higher in the study group than in the control group (36.7% vs. 10%; p = 0.0086). A detailed analysis revealed that patients with low or average agreeableness exhibited a notably higher incidence of depression compared to those with high agreeableness (100% or 75% vs. 28.6%; p = 0.0400). Similarly, individuals with high levels of neuroticism had a significantly higher incidence of depression compared to those with average or low levels of neuroticism (rates: 66.7% vs. 9.1% or 0%, respectively; p = 0.0067). Conclusions: The study underscores a substantial correlation between genodermatoses and the mental health of affected individuals, underscoring the imperative consideration of psychological factors in the management of hereditary skin disorders. Our study\'s primary limitation is the small sample size, stemming from difficulties in recruiting participants due to the rare nature of the studied conditions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Letter
    暂无摘要。
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    多项研究表明,白细胞介素36受体拮抗剂基因(IL36RN)的突变与全身性脓疱型银屑病(3GPP)有关,IL36RN突变的存在可能影响临床表现和治疗反应。然而,在临床实践中,基因检测并不常规用于诊断3GPP.以前,研究者发现Hallopeau连续肢端皮炎(ACH)患者携带IL36RN突变的比例较高。在这项研究中,我们报道了60例IL36RN突变患者中6例脓疱型银屑病患者,表现为弥漫性掌足底红斑伴角化病.ACH出现在5例患者中,5例患者出现了3GPP急性发作。这种独特的表现可能作为脓疱型银屑病患者IL36RN突变的预测因子,类似于ACH。
    Several studies have suggested that mutation of the interleukin 36 receptor antagonist gene (IL36RN) is related to generalized pustular psoriasis (GPP), and the presence of IL36RN mutation may affect the clinical manifestations and treatment responses. However, genetic testing is not routinely available in clinical practice for the diagnosis of GPP. Previously, GPP patients with acrodermatitis continua of Hallopeau (ACH) were found to have a high percentage of carrying IL36RN mutation. In this study, we reported six patients with pustular psoriasis presenting as diffuse palmoplantar erythema with keratoderma among 60 patients who carried IL36RN mutation. ACH was present in five patients and five patients had acute flare of GPP. This unique presentation may serve as a predictor for IL36RN mutation in patients with pustular psoriasis, similar to ACH.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号