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Artritis Reumatoide , Análisis de la Aleatorización Mendeliana , Esclerodermia Localizada , Humanos , Artritis Reumatoide/genética , Artritis Reumatoide/complicaciones , Artritis Reumatoide/epidemiología , Esclerodermia Localizada/genética , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/epidemiología , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma CompletoRESUMEN
BACKGROUND: Melanoma is a highly malignant tumor. Moreover, its prevalence is increasing at a rapid rate year after year. Currently, UV light is the leading cause of melanoma, although numerous other risk factors exist, including arsenic. The link between arsenic and the likelihood of developing melanoma has long been debated. As a result, we conducted a meta-analysis of the available data to investigate the association between arsenic exposure and melanoma. METHODS: We identified seven non-randomized controlled studies with 41,949 participants by searching the Chinese CNKI, Embase, PubMed, and Cochrane Library databases. We then used random-effects or fixed-effects models to evaluate the pooled odds ratios (OR) and their 95% confidence intervals (CI). Subgroup analyses were also carried out with different included regions. RESULTS: Participants in the study who were exposed to arsenic had a somewhat higher chance of developing melanoma than those who were not (OR = 1.47, 95% CI 1.01-2.13). A subgroup analysis was also carried out for the US region, and the findings were not statistically significant (OR = 1.40, 95% CI 0.94-2.07). CONCLUSION: This meta-analysis shows that arsenic exposure relates to an increased risk of melanoma.
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Arsénico , Exposición a Riesgos Ambientales , Melanoma , Neoplasias Cutáneas , Melanoma/epidemiología , Melanoma/inducido químicamente , Melanoma/etiología , Humanos , Arsénico/efectos adversos , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/inducido químicamente , Neoplasias Cutáneas/etiología , Exposición a Riesgos Ambientales/efectos adversos , Factores de Riesgo , Oportunidad RelativaRESUMEN
We described a 58-year-old female diagnosed with zosteriform cutaneous metastases from breast carcinoma. She was initially diagnosed with herpes zoster. Correct diagnosis was obtained after pathological biopsy. Various forms of cutaneous metastases have various forms, which require careful discrimination by dermatologists to reduce the rate of misdiagnosis.
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Riehl's melanosis (RM) is a contact photodermatitis, with fast progressive gray-brown skin pigmentation as the main manifestation, which can seriously affect the psychology and physiology of patients. Currently, although the etiological factors of Riehl's melanosis is still be unknown, the existing literature proves clearly the cause of it is related to the contacting with suspected allergens. For decades, there has been no standard method for the treatment of RM, but with both conventional drug therapy and laser therapy having been attempted. Topical application of bleaching agents is mainly used as an auxiliary treatment modality. The laser treatment modality remains a hot spot, among which Q-switched Nd:YAG laser is well received for RM. Positive outcomes have been achieved by the combined treatment modalities attempted in recent years also achieve positive outcomes. The purpose of this paper is to review and summarize recent advances in the treatment of the disease.
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Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation. Purpose: To identify pathogenic mutation of the NF1 gene in a pedigree of NF1. Patients and Methods: Collection of clinical data from one NF1 family. Peripheral blood samples were collected from the affected persons and their family members. Potential mutations of NF1 gene were screened by exome and cDNA sequencing. Results: A splice mutation (c.4836-10T>G) was found in exon 37 of the NF1 gene in this NFI family, and no corresponding mutation was found in healthy members of this pedigree or in the human reference genome (GRCh37/hg19). Conclusion: Mutations of NF1 gene is a major cause of NF1. The novel splice mutation in exon 37 of NF1 gene is the underlying cause of the familial c.4836-10T>G.
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Striae distensae (stretch marks/striae gravidarum) is one of the common cosmetic problems that can cause psychological distress and anxiety to patients due to its disfiguring damage, especially for women. The etiology of striae distensae is currently unknown, and risk factors include low maternal age, family history of stretch marks, excessive weight gain during pregnancy, and high neonatal weight. This article reviews the latest literature on the most commonly used, most popular, and novel treatment modalities and analyzes the hot spots and difficulties in striae distensae treatment in recent years. Topical treatment modalities are mainly used as an adjunctive treatment. Ablative lasers and non-ablative lasers are the most popular, among which picosecond has been tried in striae distensae treatment in the last two years. Combined treatment modalities are currently a hot spot for SD treatment, and microneedle radiofrequency and fractional CO2 laser combined with other treatments are the most common. Microneedle radiofrequency is the most commonly used and achieved therapeutic effect among the combined treatment modalities.
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We describe a 62-year-old woman with a 1-month-old unhealed cat bite wound caused by Mycobacterium chelonae presenting with persistent infection despite treatment with cefazolin and amoxicillin. This is the first reported case of M. chelonae infection caused by a cat bite. Cat bites are affected by the cat's food microbiome, so clinicians should consider the cat's diet if wounds are not responding as expected to first-line therapy.
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Immune-related adverse events have been reported in relation to programmed cell death protein-1 (PD-1). However, there are few reports on PD-1 inhibitor-induced bullous pemphigoid. We report the case of a patient who developed bullous pemphigoid following long-term administration of sintilimab for renal cell carcinoma. He developed scattered erythema, blisters, and generalized pruritus for 1 week before admission. Histopathology showed subepidermal blisters and direct immunofluorescence showed linear deposition of immunoglobulin G and complement 3 on the basement membrane; the level of BP180 was 146.93U/mL. A regimen containing methylprednisolone, minocycline, and niacinamide was administered and the patient was discharged following resolution of symptoms.
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Melasma is an acquired and chronic hyperpigmentation disorder which is recognized as one of the most psychologically distressing and difficult to cure forms of skin hyperpigmentation. It is associated with substantial quality of life impairments. Treatments of melasma include local application, oral medication, physical laser therapy and program combination therapy. However, routine treatment usually leads to the damage of skin barrier function, resulting in adverse reactions such as erythema, pruritus, post-inflammatory pigmentation and even scar. Skin care products contain a variety of active ingredients, which are widely concerned by cosmetic dermatologists because of high safety, good tolerance and the effect of improving the damaged skin barrier. Using skin care products alone or in combination with routine treatment not only can improve the curative effect for melasma, reduce side effects and recurrence rate, but also improve patient satisfaction. This article mainly describes the application of skin care products in the treatment of melasma.
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Acne is a kind of chronic inflammatory skin disease, which is common in the hair follicle and sebaceous gland of teenagers. It often recurs and affects the quality of life of patients. Acne itself can cause the damage of skin barrier function. On the other hand, common acne treatment methods, such as external drugs, systemic drugs, physical, and chemical treatment, can also lead to the damage of skin barrier function and affect the treatment effect. The application of skin care in the adjuvant treatment of acne has been widely concerned. Due to their high safety, good tolerance, and the effect of improving the damaged skin barrier, medical skin care products are a hot spot in the treatment of cosmetic skin diseases in recent years. It can not only increase the curative effect, reduce the side effects, but also increase the compliance of patients when combined with conventional acne treatment. In this article, skin care products and their application in acne treatment were reviewed.
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Acné Vulgar , Calidad de Vida , Acné Vulgar/diagnóstico , Acné Vulgar/tratamiento farmacológico , Adolescente , Folículo Piloso , Humanos , Glándulas Sebáceas , Cuidados de la PielRESUMEN
BACKGROUND: Several studies have shown a relationship between psoriasis and hypertension, but no meta-analysis has been restricted to studies that adjusted for confounders. The aim of the study was to estimate the association between psoriasis and hypertension with adjustment for covariates. METHODS: A systematic literature search in the MEDLINE, Embase, Cochrane databases, and Google Scholar was conducted to identify relevant studies which reported the association of psoriasis with the risk of hypertension published up to November 2018 in English. Data analysis was performed with Stata V.12, and Begg adjusted rank correlation test and Egger regression asymmetry test were used to detect publication bias. RESULTS: A total of 16 adjusted-for-covariates studies, involving 50,291 cases with hypertension in 255,132 psoriasis patients and 76,547 cases with hypertension in 814,631 controls (no psoriasis), were included in this meta-analysis. The results indicated that psoriasis was associated with an increased risk of hypertension compared to those without psoriasis, and the prevalence of hypertension in severe psoriasis patients was higher than that in mild psoriasis patients, and the risk of hypertension in psoriasis patients was higher than that in nonpsoriasis patients in Europe and Asia. CONCLUSION: We conducted this meta-analysis using the adjusted-for-covariates odds ratio, demonstrating that psoriasis was associated with an increased risk of hypertension compared to those without psoriasis.
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Hipertensión/diagnóstico , Psoriasis/diagnóstico , Correlación de Datos , Humanos , Hipertensión/fisiopatología , Oportunidad Relativa , Psoriasis/fisiopatología , Medición de Riesgo/métodosRESUMEN
Fractional ablative carbon dioxide laser resurfacing is a frontline treatment for acne scars. It creates multiple microscopic treatment zones to accelerate the collagen formation and the healing process of reepithelialization, according the principle of fractional photothermolysis. At present, the fractional CO2 laser with a wavelength of 10,600 nm is commonly used in the field of cosmetology and clinical therapies for various skin diseases, and it can effectively improve skin regeneration and scar formation. To obtain satisfactory results for patients with scars, repetitive fractional laser therapy is always required; however, this treatment could easily lead to complications such as erythema, edema, infection, and post-inflammatory hyperpigmentation. In addition, different types of acne scars may have different responses to laser, further limiting its widespread use. In recent studies both home and abroad, a new pattern of fractional laser combined with other therapies to improve acne scar has been recommended to guarantee the safety and effective of treatment. This article reviews the recent pertinent literatures and summarized the progression of ablative fractional CO2 laser combined with other therapies on acne scar.
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Acné Vulgar/complicaciones , Cicatriz/terapia , Láseres de Gas/uso terapéutico , Cicatriz/etiología , Terapia Combinada , Humanos , Láseres de Gas/efectos adversos , Regeneración/fisiologíaRESUMEN
Primary cutaneous nocardiosis caused by Nocardia brasiliensis is an uncommon disease. The present authors report a Chinese woman presented with lymphocutaneous nocardiosis caused by N. brasiliensis. The lesion begin with her right hand after an unknown insect sting and evolved rapidly and formed painful erythema and two subcutaneous nodules and abscesses on her right forearm in 5 days. N. brasiliensis was isolated from pustule and identified by gene sequencing. The patient received 2 weeks of combination therapy contained infusion of amoxilin potassioum clavinet and oral TMP/SMX and followed by a single therapy of oral TMP/SMX for 1 month and got a marked improvement. The present authors reviewed a case of lymphocutaneous nocardiosis caused by N. brasiliensis reported in China.
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Linfangitis/diagnóstico , Nocardiosis/diagnóstico , Nocardia/aislamiento & purificación , Piel/microbiología , Adulto , Biopsia , China , Diagnóstico Diferencial , Femenino , Antebrazo , Humanos , Linfangitis/microbiología , Nocardiosis/microbiología , Piel/patología , Enfermedades Cutáneas BacterianasRESUMEN
Exposure of ultraviolet (UV) radiation is the major factor from environment to cause erethema, inflammation, photoaging and skin carcinogenesis. Vicenin-2, a bioflavonoid which are isolated from several medicinal plants. The present study was demonstrated the role of vicenin-2 on UVB linked oxidative stress and photoaging signaling in human dermal fibroblasts (HDF). In this study, UVB-irradiation (100â¯mJ/cm2) significantly elevated the intracellular ROS levels, lipid peroxidation, DNA damage, depletion of antioxidants resulted in apoptotic HDF cells. Interestingly, HDF cells were administrated with vicenin-2, 1â¯h before UVB-irradiation prevents ROS generation, TBARS, apoptotic changes and DNA damage in HDF. MAPKs and MMP signaling are implicated in oxidative stress and photoaging; these signaling events are considered as photoaging and differentiation. We found that Vicenin-2 prevents over expression of MAPKs (p-ERK1, p-JNK & p-p38), AP-1 and MMPs (MMP-2, 9 & 12) in during the exposure of UVB in HDF cells. These findings conclude that vicenin-2 could be a potential bioactive ingredient to absorb UV photons and protects the dermal cells from the UVB associated oxidative stress and photoaging signaling due to sunscreen properties.
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Apigenina/uso terapéutico , Fibroblastos/efectos de la radiación , Glucósidos/uso terapéutico , Estrés Oxidativo/efectos de los fármacos , Envejecimiento de la Piel/efectos de los fármacos , Antiinflamatorios/farmacología , Antiinflamatorios/uso terapéutico , Apigenina/farmacología , Línea Celular , Glucósidos/farmacología , Humanos , Metaloproteinasas de la Matriz/metabolismo , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Sustancias Protectoras/farmacología , Transducción de Señal , Piel/patologíaRESUMEN
BACKGROUND: Schizophyllum commune, a basidiomycetous fungus, is a common invader of rotten wood. This fungus rarely causes mycotic disease in humans, especially cutaneous infection. In this paper, we describe the first case of cutaneous granuloma caused by S. commune in a Chinese woman. CASE PRESENTATION: A 25-year-old female with a two-year history of erythema, papules, nodules, and scales on her sole of left foot was presented to our outpatient center. Samples were obtained by the scraping of lesion and for light microscopy. Hyphae were observed by microscopic examination. We carried out a skin tissue biopsy, which showed multiple granulomatous nodules. Biopsy specimens were also inoculated onto media. After being cultured on SDA at 27 °C for 7 days, spreading-woolly-white colonies grew on the inoculation sites of media containing chloramphenicol only and there,s no other colonies grew. S. commune was identified by morphology methods, biochemical tests, and PCR sequencing. Pathological findings also aided in diagnosing cutaneous fungal granuloma. Oral itraconazole was applied. After 1 month of therapy, rashes on her left foot and pain were improved. CONCLUSION: We describe the first case of cutaneous granuloma caused by Schizophyllum commune, which illustrates the importance of recognizing uncommon pathogenic fungal infections.
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Enfermedades del Pie/diagnóstico , Granuloma/diagnóstico , Micosis/diagnóstico , Schizophyllum/aislamiento & purificación , Adulto , Antifúngicos/uso terapéutico , ADN de Hongos/genética , ADN de Hongos/metabolismo , Femenino , Enfermedades del Pie/tratamiento farmacológico , Enfermedades del Pie/microbiología , Enfermedades del Pie/patología , Granuloma/tratamiento farmacológico , Granuloma/microbiología , Humanos , Hifa/genética , Hifa/aislamiento & purificación , Itraconazol/uso terapéutico , Microscopía , Micosis/tratamiento farmacológico , Micosis/microbiología , Schizophyllum/genética , Schizophyllum/crecimiento & desarrolloRESUMEN
OBJECTIVE: To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE). METHODS: Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing. RESULTS: The results revealed that the patient and his mother have both carried a novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) in exon 6. A novel nonsense mutation c.958C to T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls. CONCLUSION: The novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.
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Acrodermatitis/genética , Proteínas de Transporte de Catión/genética , Zinc/deficiencia , Adolescente , Secuencia de Bases , Exones , Homocigoto , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , LinajeRESUMEN
OBJECTIVE: To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC). METHODS: For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family. CONCLUSION: The missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.
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Mutación Missense , Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Adolescente , Adulto , Secuencia de Bases , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Linaje , Fenotipo , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis TuberosaRESUMEN
OBJECTIVE: To identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH). METHODS: Clinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. RESULTS: A novel frame-shift mutation c.2638delG (p.Asp880ThrfsX15) from the patients of the pedigree was detected in exon 8 of the ADAR1 gene. And a novel nonsense mutation c.2867C>A (p.Ser956X) was detected in exon 10 of the ADAR1 gene from the sporadic case. Neither mutation was identified among the unaffected family members nor 100 unrelated healthy controls. CONCLUSION: The frame-shift mutation c.2638delG (p.Asp880ThrfsX15) and the nonsense mutation c.2867C>A (p.Ser956X) in the ADAR1 gene probably underlie the DSH in our patients.
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Adenosina Desaminasa/genética , Codón sin Sentido , Mutación del Sistema de Lectura , Trastornos de la Pigmentación/congénito , Proteínas de Unión al ARN/genética , Adulto , Pueblo Asiatico/genética , Secuencia de Bases , China , Exones , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Trastornos de la Pigmentación/enzimología , Trastornos de la Pigmentación/genéticaRESUMEN
OBJECTIVE: To identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis. METHODS: Peripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing. RESULTS: The patient has presented facial angiofibroma and prefrons fibrous plaque for 20 years, and lumbar connective tissue nevus for 10 years. She also had mental retardation but no epilepsy. A novel frame-shift mutation c.4258-4261delTCAG was detected in exon 34 of the TSC2 gene, which had led to a premature stop codon TAG after the 55th amino acids. The same mutation was not found in the unaffected family members and 100 unrelated healthy controls. CONCLUSION: The novel frame-shifting mutation c.4258-4261delTCAG (p.Ser1420GlyfsX55) in the TSC2 gene may be responsible for the disease in the patient.