Photosensitivity

光敏性
  • 文章类型: Case Reports
    Kindler综合征(KS)是一种罕见的常染色体隐性皮肤病。FERMT1基因突变并引起诸如起泡和表皮萎缩等症状,以及癌症和伤口愈合不良的风险增加。一名20多岁的男性寻求治疗,因为他的身体色素沉着过度,面部变硬,卷烟纸皮肤薄薄的皱纹与光敏性有关。他在童年时期就有过全身水泡的历史,形成原始区域并最终治愈,形成萎缩性疤痕。目的是评估KS患者的临床发现与皮肤镜检查的相关性。KS是一种罕见的真皮病,光敏性,婴儿期的肢端大疱为主要特征。皮肤镜检查被证明是诊断这种罕见疾病的有用工具,因为它有助于鉴定真皮病,Adermatoglyphia,和香烟纸疤痕。
    Kindler syndrome (KS) is a rare autosomal recessive skin condition. The FERMT1 gene mutates and causes symptoms such as blistering and epidermal atrophy, as well as an increased risk of cancer and poor wound healing. A male in his 20s sought treatment for his hyper-hypopigmentation over the body with poikiloderma of the face with thin wrinkled cigarette paper skin in association with photosensitivity. He gave a history of developing blisters all over the body during his childhood, which formed raw areas and eventually healed forming atrophic scars. The objective is to assess the correlation of clinical findings with dermoscopy in a case of KS. KS is a rare disorder with poikiloderma, photosensitivity, and acral bullae in infancy as predominant features. Dermoscopy proves to be a useful tool in the diagnosis of this rare disorder as it helps in the identification of poikiloderma, adermatoglyphia, and cigarette paper scarring.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    药物引起的急性胰腺炎是一种潜在的被忽视的诊断,必须得到精确的重视。在排除酒精和胆结石之后,药物引起的急性胰腺炎可被认为是急性胰腺炎的第三常见原因。左氧氟沙星属于一类用于治疗各种感染的氟喹诺酮类抗生素。除了光敏性和肝毒性,左氧氟沙星可诱发急性胰腺炎,虽然很少描述。我们重点介绍了左氧氟沙星诱发的女性急性胰腺炎病例。她表现出急性胰腺炎的典型体征和症状,最近3天一直服用左氧氟沙星治疗尿路感染。在排除了所有其他可能的原因之后,她的临床照片,实验室结果,影像学检查结果证实左氧氟沙星诱发急性胰腺炎。
    Drug-induced acute pancreatitis is a potentially ignored diagnosis that must be precisely valued. Drug-induced acute pancreatitis can be considered the third common cause of acute pancreatitis after ruling out alcohol and gallstones. Levofloxacin belongs to a class of fluoroquinolone antibiotics used for treating various infections. Besides photosensitivity and liver toxicity, levofloxacin can induce acute pancreatitis, although rarely described. We highlight a case of acute pancreatitis in a female induced by levofloxacin. She presented with typical signs and symptoms of acute pancreatitis and had been taking levofloxacin for urinary tract infections for the last 3 days. After ruling out all other possible causes, her clinical picture, laboratory results, and imaging findings confirmed acute pancreatitis induced by levofloxacin.
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  • 文章类型: Case Reports
    背景:红细胞生成性原卟啉症是一种罕见的疾病,是儿童的重要健康问题,造成痛苦的光敏性。对遗传特征和临床表现之间的相关性知之甚少。促红细胞生成性原卟啉症的护理标准是基于避免日晒和使用防晒霜,但最近的文献表明,西咪替丁可能有改善太阳敏感度的作用。在此,我们报告了我们的案例系列,描述了西咪替丁的成功使用并分析了潜在的表型-基因型相关性。
    方法:本病例系列描述了5名患者就诊于我们的风湿病服务机构,他们抱怨阳光敏感。血液检查和遗传分析与红细胞生成性原卟啉症的诊断一致。5例患者中有4例除标准治疗外还接受西咪替丁治疗,并通过促红细胞生成原卟啉症-生活质量问卷评估治疗效果。
    结论:促红细胞生成性原卟啉症通常在儿童早期经过短暂的日晒后出现。皮肤表现是调查的主要原因,虽然有时它们会更微妙,导致严重的诊断延迟。儿童的皮肤病会对他们的家庭和社会关系产生深远的影响。西咪替丁治疗似乎是红细胞生成性原卟啉症儿童的绝佳治疗选择。
    BACKGROUND: Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations. The standard of care for Erythropoietic protoporphyria is based on avoiding sun and using sun protections, but recent literature has suggested that cimetidine may have a role in improving sun sensitivity. Herein we report our case series describing the successful use of cimetidine and analyzing potential phenotype-genotype correlations.
    METHODS: This case series describes five patients presented to our Rheumatology Service complaining sun sensitivity. Blood exams and genetic analysis were consistent with the diagnosis of erythropoietic protoporphyria. Four of 5 patients received cimetidine in addition to standard therapies and the effect of treatment was evaluated by Erythropoietic Protoporphyria - Quality of Life questionnaire.
    CONCLUSIONS: Erythropoietic protoporphyria usually manifests in early childhood after a short sun exposure. Skin manifestations are the main reason for investigations, although sometimes they can be more subtle, leading to a significant diagnostic delay. Skin diseases in children can have profound effects on their family and social relationships. A treatment with cimetidine appears to be an excellent therapeutic option in children with Erythropoietic protoporphyria.
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  • 文章类型: Case Reports
    网状红斑黏液病是一种罕见且持续的原发性特发性黏液病,通常被称为斑块样皮肤粘液病或中线粘液病。它表现为网状斑块或红斑,前干和后干都有好发。受影响的患者通常无症状。在暴露于阳光后报告瘙痒或灼烧感。病因仍然模糊;其发病机理知之甚少,特别是在免疫功能低下的患者,如HIV感染的患者。疾病关联没有统一记录。抗疟药可显着改善和缩短病程。我们报告了一例31岁的非洲妇女,患有潜在的HIV感染,该妇女表现出网状红斑粘液病的经典临床和组织学特征。这种情况在艾滋病毒感染患者中很少见,特别是在非洲裔,其中最常报告的是扁平苔藓黏液性水肿/巩膜黏液性水肿变异型和肢端持续性丘疹黏液。在HIV感染的个体中,包括皮肤有颜色的患者中,光敏性较高的发生率可能在网状红斑粘液病中起潜在作用。讨论了其与红斑狼疮和HIV感染背景下的光敏性的关系。据我们所知,这是非洲HIV感染患者中首例报告的网状红斑黏液病病例.这种情况突显了在出现红斑和斑块的病例中需要诊断意识,这些斑块和斑块在躯干的中线和阳光照射区域呈网状。
    Reticular erythematous mucinosis is a rare and persistent form of primary idiopathic mucinosis, often referred to as plaque-like cutaneous mucinosis or midline mucinosis. It presents with reticulate patches or erythematous plaques with predilection for the anterior and posterior trunk. Affected patients are frequently asymptomatic. Pruritus or burning sensations were reported after exposure to the sun. The aetiology remains obscure; its pathogenesis is poorly understood, particularly in immunocompromised patients such as HIV-infected patients. The disease associations are not uniformly documented. Antimalarial agents significantly improve and shorten the course of the disease. We report a case of a 31-year-old African woman with underlying HIV infection who displayed the classical clinical and histological features of reticular erythematous mucinosis. This condition is rare among the HIV-infected patients, particularly in those of African descent, in whom lichen myxoedematosus/scleromyxoedema variants and acral persistent papular mucinoses were most frequently reported. The higher incidence of photosensitivity in HIV-infected individuals including the patients with skin of colour may play a potential role in reticular erythematous mucinosis. Its relationship with lupus erythematosus and photosensitivity in the context of HIV infection is discussed. To the best of our knowledge, this is the first reported case of reticular erythematous mucinosis in an African HIV-infected patient. This case highlights the need for diagnostic awareness in cases presenting with erythematous plaques and patches in a net-like pattern developing on the midline and sun-exposed areas of the trunk.
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  • 文章类型: Journal Article
    Kindler综合征是一种罕见的常染色体隐性遗传病。作者报告了一个具有独特表现的病例,该病例以前从未在医学文献“羊毛”中报道过。这是一个13岁的叙利亚儿童的案例,他脸上长着细小的头发,和严重的泌尿并发症。Kindler综合征的特征是出生时开始的肢端皮肤起泡,弥漫性皮肤萎缩,光敏性,polikiloderma,和各种粘膜检查结果。突出一组临床诊断标准;只有在基因测试不可用的情况下才使用。
    Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur\" lanugo hair\". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hair, and serious urinary complications. Kindler syndrome is characterized by acral skin blistering beginning at birth, diffuse cutaneous atrophy, photosensitivity, poikiloderma, and various mucosal findings. Highlighting a set of clinical diagnostic criteria; which is used only if a genetic test is not available.
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  • 文章类型: Case Reports
    Haber\'s syndrome is an autosomal dominant, rare genodermatosis characterized by photosensitive, persistent facial erythema associated with reticulated hyperpigmentation. We present a case of an eight-year-old healthy Saudi girl who presented with facial erythema and generalized reticulated hyperpigmentation. Systematic review and laboratory studies were unremarkable. Histopathological examination revealed hyperpigmentation of the basilar keratinocytes with mild digitated elongations of the rete ridges. The patient was diagnosed with early-onset clinical presentation of Haber\'s syndrome. In this report, Haber\'s syndrome is reviewed, and differential diagnoses of reticulated hyperpigmentation are discussed.
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  • 文章类型: Case Reports
    红细胞生成性原卟啉症(EPP)具有不起泡的光敏性。肝胆表现见于约5%的病例,包括胆石症,肝酶升高,进行性黄疸,和终末期肝病。根据临床特征和红细胞无金属原卟啉升高怀疑诊断,并通过遗传分析证实,显示铁螯合酶(FECH)基因功能丧失突变。我们介绍了一个青春期男孩,他表现出黄疸和光敏性,肝活检显示泪小管和肝细胞内有棕色色素沉积。该颜料在偏光显微镜下显示马耳他交叉双折射,在电子显微镜上显示美杜莎头外观。遗传分析显示FECH的功能丧失突变。EPP的引入是由FECH突变引起的血红素生物合成的先天性错误,患病率为1:75,000至1:200,000。我们介绍了一个16岁的青春期男孩,患有光敏性,腹痛,和黄疸,肝脏中的原卟啉沉积,最终根据遗传分析诊断为EPP。
    Erythropoietic protoporphyria (EPP) presents with nonblistering photosensitivity. Hepatobiliary manifestations are seen in around 5% cases and include cholelithiasis, elevations in liver enzymes, progressive jaundice, and end-stage liver disease. The diagnosis is suspected based on clinical features and elevated erythrocyte metal-free protoporphyrin and confirmed by genetic analysis showing loss-of-function mutations in the ferrochelatase (FECH) gene. We present an adolescent boy who presented with jaundice and photosensitivity with the liver biopsy showing deposition of brown pigments within the canaliculi and hepatocytes. This pigment showed Maltese cross birefringence on polarizing microscopy and Medusa-head appearance on electron microscopy. Genetic analysis revealed loss-of-function mutations in FECH. Introduction of EPP is an inborn error of heme biosynthesis caused by mutations in FECH with a prevalence of 1:75,000 to 1:200,000. We present a case of a 16-year-old adolescent boy with photosensitivity, abdominal pain, and jaundice with protoporphyrin deposition in the liver who was ultimately diagnosed with EPP based on genetic analysis.
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  • 文章类型: Journal Article
    背景:大多数抗高血压药可以诱导皮肤光敏性,这可能会增加黑色素瘤的风险。然而,确证有限。我们研究了使用抗高血压药与黑色素瘤风险之间的关联。
    方法:使用挪威癌症登记处的数据进行了一项全国性的巢式病例对照研究。2004-15年度国家登记处和挪威处方数据库。每个黑色素瘤病例随机选择10个对照,性别和出生年份相匹配。该研究包括12048例病例和117895例对照。我们用95%置信区间(CI)估计了比率(RR)。针对环境紫外线辐射(UVR)调整所有分析。我们还进行了主动比较分析,和敏感性分析,只包括新用户,区分独家用户和混合用户,允许不同的延迟周期,并按黑色素瘤亚型和临床分期进行亚组分析。
    结果:与未使用相比,我们观察到利尿剂使用者的黑色素瘤风险略有增加(RR1.08,CI1.01-1.15),钙通道阻滞剂(RR1.10,CI1.04-1.18)和影响肾素-血管紧张素系统的药物(RR1.10,CI1.04-1.16),但不是β受体阻滞剂(RR0.97,CI0.92-1.03)。我们发现黑素瘤亚型或临床分期之间的关联没有异质性,并且累积确定日剂量(DDDs)与黑素瘤之间没有剂量反应关系。在累积DDDs和环境UVR之间没有发现相互作用。
    结论:弱关联,缺乏剂量反应关系,缺乏与环境UVR的相互作用,在这项全国性研究的DDD分析中,不支持抗高血压药与黑色素瘤风险之间存在因果关系.
    Most antihypertensives can induce dermal photosensitivity, which may increase melanoma risk. However, corroborating evidence is limited. We examined the associations between use of antihypertensives and melanoma risk.
    A nationwide nested case-control study was conducted using data from the Cancer Registry of Norway, the National Registry and the Norwegian Prescription Database in 2004-15. Ten controls were randomly selected for each melanoma case, matched on sex and birth year. The study included 12 048 cases and 117 895 controls. We estimated rate ratios (RRs) with 95% confidence intervals (CIs). All analyses were adjusted for ambient ultraviolet radiation (UVR). We additionally performed active comparator analyses, and sensitivity analyses by only including new users, distinguishing between exclusive and mixed users, allowing for different latency periods, and subgroup analyses by melanoma subtype and clinical stage.
    Compared with non-use, we observed a slightly increased melanoma risk in users of diuretics (RR 1.08, CI 1.01-1.15), calcium-channel blockers (RR 1.10, CI 1.04-1.18) and drugs affecting the renin-angiotensin system (RR 1.10, CI 1.04-1.16), but not for beta blockers (RR 0.97, CI 0.92-1.03). We found no heterogeneity of associations by melanoma subtype or clinical stage and no dose-response relationship between the cumulative defined daily doses (DDDs) and melanoma. No interaction was found between cumulative DDDs and ambient UVR.
    Weak associations, with lack of a dose-response relationship and lack of interactions with ambient UVR, in the DDD analysis in this nationwide study do not support a causal relationship between antihypertensives and melanoma risk.
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  • 文章类型: Review
    虽然艾滋病毒感染者中最常见的药物不良事件是皮疹,光敏性并不常见。我们在此描述了一名感染HIV的女性,她出现了照片分布的环状靶状喷发和小的紧张水泡。我们的患者在宽带UV光测中客观地降低了红斑阈值,UVA和UVB。在停止富马酸替诺福韦酯和依非韦仑混合制剂五个月后进行的重新测试的异常反应的解决证实了药物诱导的光敏性的诊断。鉴于首选的一线抗逆转录病毒疗法,通常包含TDF和EFV,对于接受这种抗逆转录病毒治疗方案的患者,应强调对宽带紫外线波长的光防护。
    Although the most frequent presentation of adverse drug events amongst HIV- infected individuals is skin rash, photosensitivity is uncommon. We herein described an HIV-infected female who presented with photo-distributed annular target-like eruptions and small tense blisters. Our patient had objectively reduced erythemal thresholds on broadband UV phototesting, to both UVA and UVB. Resolution of the abnormal responses on retesting undertaken after cessation of the tenofovir disoproxil fumarate and efavirenz in mixed formulation for five months confirmed a diagnosis of drug-induced photosensitivity. Given the preferred first-line anti-retroviral therapy which usually contains both TDF and EFV, photoprotection from broad-band ultraviolet wavelengths should be emphasized for the patients receiving this antiretroviral regimen.
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