blisters

水泡
  • 文章类型: Review
    大疱疮是一种罕见的遗传性皮肤病,可引起水疱。在真皮-表皮交界处或附近编码结构蛋白的基因被连续或主要突变,这是EB的主要原因。在这里,两名中国男孩被诊断出患有这种疾病,每个基因都有不同的变异,作为EB遗传咨询的参考。皮肤护理显著影响其预后和生活质量。
    方法:两个中国男孩,表型正常的父母,被诊断出明显的水疱症状,一种患有显性营养不良性大疱性表皮松解症,另一种患有严重形式的单纯性大疱性表皮松解症。第一位患者在COL7A1等位基因中有G到A变异,在核苷酸位置6163,被命名为“G2055A”。由于COL7A1等位基因在三螺旋结构域具有甘氨酸取代,因此先证为营养不良性大疱性表皮松解症的杂合。在他的母亲身上发现了一个类似的变种,表明了它对后代的潜在传播。另一名患者患有严重的单纯大疱性表皮松解症,罕见的c.377T>A变体导致氨基酸p.Leu126Arg(NM_000526.5(c.377T>G,p.Leu126Arg)在角蛋白14基因中。在先前的文献中,角蛋白14与良好的预后相关。然而,我们患有这种罕见变异的患者在21日龄时不幸死于脓毒症。据报道该变体仅发生一次。
    结论:我们的研究表明,患有COL7A1c.6163G>A和KRT14c.377T>A变异的大疱性表皮松解症患者具有不同的临床表现,与显性形式的营养不良性EB相比,其表型更为温和。因此,c.6163G>A患者预后较好。此外,c.377T>A患者比c.6163G>A基因变异的患者更容易感染。基因检测对于确定负责的特定变体和改善治疗方案至关重要。
    UNASSIGNED: Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB. Herein, two Chinese boys were diagnosed with the condition, each with a different variant in a gene that serves as a reference for EB genetic counseling. Skincare significantly impacted their prognosis and quality of life.
    METHODS: Two Chinese boys, with phenotypically normal parents, have been diagnosed with distinct blister symptoms, one with Dominant Dystrophic Epidermolysis Bullosa and the other with a severe form of Epidermolysis Bullosa Simplex. The first patient had a G-to-A variant in the COL7A1 allele, at nucleotide position 6163 which was named \"G2055A\". The proband is heterozygous for Dystrophic Epidermolysis Bullosa due to a COL7A1 allele with a glycine substitution at the triple helix domain. A similar variant has been discovered in his mother, indicating its potential transmission to future generations. Another patient had severe Epidermolysis Bullosa Simplex with a rare c.377T > A  variant resulting in substitution of amino acid p.Leu126Arg (NM_000526.5 (c.377T > G, p.Leu126Arg) in the Keratin 14 gene. In prior literature, Keratin 14 has been associated with an excellent prognosis. However, our patient with this infrequent variant tragically died from sepsis at 21 days old. There has been a reported occurrence of the variant only once.
    CONCLUSIONS: Our study reveals that Epidermolysis Bullosa patients with COL7A1 c.6163G > A and KRT14 c.377T>A variants have different clinical presentations, with dominant forms of Dystrophic EB having milder phenotypes than recessive ones. Thus, the better prognosis in the c.6163G > A patient. Furthermore, c.377T>A patient was more prone to infection than the patient with c.6163G>A gene variant. Genetic testing is crucial for identifying the specific variant responsible and improving treatment options.
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  • 文章类型: Case Reports
    大疱性类天疱疮(BP)是一种复杂的自身免疫性水疱疾病,在合并症人群中发病率增加,尤其是在老年人中。药物诱导的BP的发生与潜在的遗传易感性有关,引发增强的免疫反应,自身抗体的形成,以及基底膜区内抗原特性的改变。有超过90种确定的能够沉淀BP的药物,我们介绍了一例87岁女性患者的合并症,她经历了从氯沙坦到沙库巴曲/缬沙坦的药物变化.三个月后,她的下肢出现红斑,进展为伴有瘙痒的全身性皮疹。在接下来的一个月里,这些病变演变成紧张的水泡,伴有浆液性内容和剧烈疼痛。怀疑药物改用沙库巴曲/缬沙坦是原因,药物被停用了,开始免疫调节治疗,导致病变的显着改善。
     Bullous pemphigoid (BP) is a complex autoimmune blistering disease with an increased incidence in the comorbid population, particularly among older adults. The occurrence of drug-induced BP is associated with an underlying genetic predisposition, triggering an enhanced immune response, the formation of autoantibodies, and alterations in antigenic properties within the basement membrane zone. With over 90 identified drugs capable of precipitating BP, we present the case of an 87-year-old woman with comorbidities who experienced a medication change from losartan to sacubitril/valsartan. Three months later, erythematous lesions appeared on her lower limbs, progressing to a generalized rash accompanied by itching. Over the following month, these lesions evolved into tense blisters with serous content and intense pain. Suspecting the medication switch to sacubitril/valsartan as the cause, the drug was discontinued, and immunomodulatory treatment was initiated, resulting in a notable improvement in the lesions.
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  • 文章类型: Review
    棕色隐居蜘蛛(BRS)咬伤很难确认,但可以通过考虑位置进行临床诊断,一年的季节,和临床表现。这里,一名26岁的男性在昆虫叮咬后出现皮肤病变,瘀伤,严重肿胀,三天后右侧下肢弥漫性水泡,被描述。临床检查后,病史评估,并考虑其他相关因素,该患者接受了BRS咬伤引起的坏死性筋膜炎的鉴别诊断。虽然蜘蛛咬伤中毒很少见,正确的诊断和管理很重要,因为,在某些情况下,结果可能是毁灭性的。
    A brown recluse spider (BRS) bite is challenging to confirm, but may be clinically diagnosed by considering the location, the season of the year, and the clinical manifestations. Here, the case of a 26-year-old male who presented after an insect bite with a skin lesion, bruising, severe swelling, and diffuse blisters on the right lower extremity after three days, is described. Following clinical examination, patient history assessment, and consideration of other relevant factors, the patient received a differential diagnosis of necrotizing fasciitis caused by BRS bite. Although spider bite poisoning is rare, proper diagnosis and management are important because, in some cases, the outcomes may be devastating.
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  • 文章类型: Case Reports
    大疱性系统性红斑狼疮(BSLE)是一种非常罕见的自身免疫性疾病,其特征是在大部分暴露于阳光的皮肤区域上出现囊泡状病变。我们介绍了一例36岁的女性,该女性在先前控制不佳的狼疮后出现了囊泡状病变。氨苯砜被添加到她的治疗计划中,病变在几周内愈合,没有疤痕或色素沉着。
    Bullous systemic lupus erythematous (BSLE) is a very rare autoimmune disease characterized by vesiculobullous lesions on mostly sun-exposed areas of skin. We present a case of a 36-year-old female who developed vesiculobullous lesions after previously having poorly controlled lupus. Dapsone was added to her treatment plan, and the lesions healed in a few weeks without scarring or pigmentation.
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  • 文章类型: Case Reports
    棕色隐居蜘蛛(BRS)咬伤很难确认,但可以通过考虑位置进行临床诊断,季节和临床表现。我们描述了一名26岁的男性,他在BRS咬伤后出现皮肤病变,瘀伤,3天后右下肢严重肿胀和弥漫性水疱。在坏死性筋膜炎的鉴别诊断中应考虑此病例。虽然蜘蛛咬伤中毒很少见,正确的诊断和管理很重要,因为,在某些情况下,它可能会带来毁灭性的后果。
    A brown recluse spider (BRS) bite is challenging to confirm, but can be clinically diagnosed by considering the location, the season of the year and the clinical manifestations. We described a 26-year-old male who presented after a BRS bite with a skin lesion, bruising, severe swelling and diffuse blisters on the right lower extremity after 3 days. This case should be considered in the differential diagnosis of necrotizing fasciitis. Although spider bite poisoning is rare, proper diagnosis and management are important because, in some cases, it can have devastating outcomes.
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  • 文章类型: Journal Article
    目的:类天疱疮(PG)是一种罕见的妊娠期皮肤病。鉴于其在孕妇中的发病率,内科医生,尤其是产科医生在其整个职业生涯中可能不会遇到这种诊断.我们发现这是一个主要问题,并且有义务尽可能详细地报告它以及已证明疗效的推荐治疗方法。
    方法:我们描述了一名27岁患者的案例,该患者在怀孕第9周被转诊至皮肤科,水疱严重扩散。她在第一次怀孕时被诊断出患有类天疱疮。开始使用高剂量的皮质类固醇,但由于效果不足,添加了环孢菌素。妊娠并发妊娠糖尿病。由于膜的过早破裂,患者在第33周通过剖腹产分娩。新生儿出生后立即观察到囊泡,在2周内自发减少。即使全身性皮质类固醇与环孢素联合使用,分娩后1个月患者仍可见水泡。
    结论:PG是一种罕见的妊娠皮肤病。病程可能很严重,需要全身治疗。正如这个病人所描述的,全身性皮质类固醇可能不够,可能需要增加另一种免疫抑制治疗.如果类天疱疮妊娠发生在以前的怀孕期间,建议重新考虑再次怀孕。
    OBJECTIVE: Pemphigoid gestationis (PG) is a rare skin disease of pregnancy. Given its incidence in pregnant women, physicians and especially obstetricians may not encounter this diagnosis in their entire career. We find this to be a major problem and there is an obligation to report it in as much detail as possible along with recommended treatments with proven efficacy.
    METHODS: We describe the case of a 27 year old patient who was referred to the dermatology department with severe dissemination of blisters in the 9th week of pregnancy. She was diagnosed with pemphigoid gestationis in her first pregnancy. High doses of corticosteroids were initiated but due to inadequate effect cyclosporine was added. The pregnancy was complicated with gestational diabetes. The patient gave birth in her 33rd week by caesarian section due to premature rupture of the membrane. Vesicles were seen on the newborn immediately after birth which diminished spontaneously over 2 weeks. Blisters were still seen on the patient 1 month after labor even with the combination of systemic corticosteroids with cyclosporine.
    CONCLUSIONS: PG is a rare dermatosis of pregnancy. The course of the disease can be severe, necessitating systemic therapy. As described in this patient, systemic corticosteroids may not be sufficient and adding another immunosuppressive treatment may be needed. If pemphigoid gestationis has occurred during a previous pregnancy it is advised to reconsider another pregnancy.
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  • 文章类型: Case Reports
    Pernio, also known as chilblains, presents as erythematous macules at sites of cold exposure, mainly in women. It is a diagnosis that is often overlooked, and when suspecting a patient with pernio, other conditions such as lupus nephritis and Raynaud\'s must be ruled out. A 46-year-old lady presented to the clinic with skin findings suggestive of pernio. She had erythematous macules on the dorsum of her hands, which appeared during cold weather and lasted for three weeks. She had been suffering with this condition for over 18 years and nothing has helped her condition, other than preventing cold exposure. There are limited treatment options for pernio, and current management includes using steroids, calcium-channel blockers and cold avoidance. Current research has suggested that pernio could also be linked to the severe acute respiratory syndrome coronavirus 2.
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  • 文章类型: Journal Article
    镰刀典型地表现为手的叉指空间瘙痒和皮肤损伤,树干,和生殖器。很少,非经典皮肤病变可导致患者误诊和管理不当。
    Scabies classically presents with itching and skin lesions in the interdigital spaces of hands, trunk, and genitals. Rarely, non-classical skin lesions can result in misdiagnosis and inappropriate management of patients.
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  • 文章类型: Case Reports
    一位有长期高血压病史的87岁女性,甲状腺功能减退症和糖尿病表现为持续2个月的红斑基底和结痂表面的鳞片状和瘙痒性囊泡。它们首先出现在她的腹部,并逐渐扩散到她的下背部,大腿,然后扩散到她的上肢和下肢。她的病变没有疼痛,仅因阳光照射而加剧,保留粘膜。Nikolsky标志为阳性,没有明显的充满液体的大疱。病史仅在病变出现前2个月将赖诺普利的剂量加倍时才引人注目,没有其他潜在的环境和/或药物触发可识别的历史记录。鉴于赖诺普利剂量增加后出现的病变,在没有任何其他明显的触发因素的情况下,发生药物不良反应(ADR),产生相应的NaranjoADR概率得分为7。特别是,考虑到她的临床表现以及病变的形态和分布,最初怀疑是药物诱导的天疱疮。然而,她的皮肤活检改变了我们对药物诱导的大疱性类天疱疮(BP)的诊断,这是到目前为止关于赖诺普利引起的血压的第二例报道,第一个报告这种不良反应的剂量反应变体。
    An 87-year-old woman with a long-standing history of hypertension, hypothyroidism and diabetes presented to us with scaly and pruritic vesicles of an erythematous base and crusted surface of 2-month duration. They first appeared on her abdomen and gradually spread to her lower back, thighs, before spreading to her upper and lower limbs. Her lesions were non-painful, aggravated by sun exposure only, and sparing mucous membranes. Nikolsky sign was positive with no discernible fluid-filled bullae. History was remarkable only for a doubling of her Lisinopril dosage 2 months prior to the appearance of her lesions, with no other potential environmental and/or drug triggers recognizable on history taking. In light of the appearance of her lesions after her Lisinopril dose escalation, in the absence of any other discernible triggers, an adverse drug reaction (ADR) was entertained, yielding a corresponding Naranjo ADR probability score of 7. Particularly, drug-induced pemphigus foliaceus was initially suspected given her clinical presentation and the morphology and distribution of her lesions. However, her skin biopsy altered our diagnosis to drug-induced bullous pemphigoid (BP) instead, making this the second case reported to date on Lisinopril-induced BP, and the first to report a dose-response variant of this adverse reaction.
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  • 文章类型: Case Reports
    We report two cases of patients with diabetes mellitus who developed bullae measuring 2 cm in diameter on the fingers or toes, which could be classified as bullosis diabeticorum after excluding several differential diagnoses that are discussed. Bullosis diabeticorum is a rare blister formation located on the palmoplantar region, which is mainly observed in the case of diabetic patients. The clinical picture is characterized by tense bullae measuring up to 10 cm in diameter, containing clear to hemorrhagic fluid. Generally, lesions heal without residual scarring, less frequently with residual postinflammatory pigmentation or tender scars. On histopathological examination, both intraepidermal and subepidermal bullae are found without any significant inflammatory infiltrate. The etiopathogenesis of bullosis diabeticorum has not yet been clarified.
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