Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 70
Filtrar
1.
Actas Dermosifiliogr ; 115(1): 56-65, 2024 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37451337

RESUMO

Psoriasis and hidradenitis suppurativa are often associated with obesity. Because chronic low-grade inflammation underlies these 2 diseases, they can progress to more severe forms in patients with obesity if weight-reduction measures are not taken. This review covers pharmacologic alternatives for treating obesity, with emphasis on the benefits associated with the novel use of glucagon-like peptide-1 (GLP-1) agonists that act on satiety receptors. These drugs have led to greater weight loss in clinical trials and real-world settings than orlistat, which until recently was the only drug approved for treating obesity in the European Union. Although experience with GLP-1 agonists in patients with obesity and inflammatory skin diseases is currently scarce, the promising results reported suggest they may offer a useful tool for managing obesity.


Assuntos
Diabetes Mellitus Tipo 2 , Dermatopatias , Humanos , Hipoglicemiantes/farmacologia , Hipoglicemiantes/uso terapêutico , Liraglutida/uso terapêutico , Obesidade/complicações , Obesidade/tratamento farmacológico , Dermatopatias/tratamento farmacológico , Dermatopatias/etiologia
2.
Actas Dermosifiliogr ; 115(1): T56-T65, 2024 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37918631

RESUMO

Psoriasis and hidradenitis suppurativa are often associated with obesity. Because chronic low-grade inflammation underlies these 2 diseases, they can progress to more severe forms in patients with obesity if weight-reduction measures are not taken. This review covers pharmacologic alternatives for treating obesity, with emphasis on the benefits associated with the novel use of glucagon-like peptide-1 (GLP-1) agonists that act on satiety receptors. These drugs have led to greater weight loss in clinical trials and real-world settings than orlistat, which until recently was the only drug approved for treating obesity in the European Union. Although experience with GLP-1 agonists in patients with obesity and inflammatory skin diseases is currently scarce, the promising results reported suggest they may offer a useful tool for managing obesity.


Assuntos
Diabetes Mellitus Tipo 2 , Dermatopatias , Humanos , Hipoglicemiantes/farmacologia , Hipoglicemiantes/uso terapêutico , Obesidade/complicações , Obesidade/tratamento farmacológico , Peptídeo 1 Semelhante ao Glucagon/uso terapêutico , Peptídeo 1 Semelhante ao Glucagon/farmacologia , Dermatopatias/tratamento farmacológico , Dermatopatias/etiologia
3.
Actas Dermosifiliogr ; 115(7): 702-711, 2024.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38382743

RESUMO

Several studies suggest that patients with psoriasis have a higher incidence of neoplasms, especially of the skin, which could be associated with the use of therapies to treat psoriasis. Furthermore, the evidence available on the safety profile of some treatments in this context, and the management of these patients is scarce, which is why clinical practice guidelines with recommendations on the management of psoriasis in cancer patients are ambiguous. This study provides recommendations on the management and use of the therapies currently available for these patients. They are the result of a Delphi consensus reached by 45 dermatologists of the Spanish Academy of Dermatology and Venereology Psoriasis Working Group, whose goal is to help specialists in the field in their decision-making processes.


Assuntos
Neoplasias , Psoríase , Humanos , Psoríase/terapia , Psoríase/tratamento farmacológico , Neoplasias/terapia , Neoplasias/complicações , Técnica Delphi , Espanha , Dermatologia/normas , Comorbidade
4.
Actas Dermosifiliogr ; 115(4): 341-346, 2024 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37482292

RESUMO

BACKGROUND: The past 5 years have seen a proliferation of new treatments for atopic dermatitis (AD). We analyzed recent drug survival data for cyclosporine in this setting. Because the Spanish National Healthcare system requires patients with AD to be treated with cyclosporine before they can be prescribed other systemic treatments, drug survival for cyclosporine may be shorter than in other diseases. MATERIAL AND METHOD: Multicenter, observational, prospective cohort study using data from the Spanish Atopic Dermatitis Registry (BIOBADATOP). Data from the Spanish Registry of Systemic Treatments in Psoriasis (BIOBADADERM) were used to create a comparison cohort. RESULTS: We analyzed data for 130 patients with AD treated with cyclosporine (median drug survival, 1 year). Median cyclosporine survival in the psoriasis comparison group (150 patients) was 0.37 years. Drug survival was significantly longer in AD than in psoriasis (P<.001). CONCLUSION: Drug survival of cyclosporine in the BIOBADATOP registry is similar to that described in other series of patients with AD and longer than that observed in the BIOBADADERM psoriasis registry.


Assuntos
Dermatite Atópica , Psoríase , Humanos , Ciclosporina/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Imunossupressores/uso terapêutico , Estudos Prospectivos , Psoríase/tratamento farmacológico , Sistema de Registros , Resultado do Tratamento
5.
Actas Dermosifiliogr ; 2024 Mar 06.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38452889

RESUMO

BACKGROUND AND OBJECTIVE: Risankizumab - a humanized monoclonal antibody that targets the p19 subunit of IL-23 - has been recently approved to treat moderate-to-severe plaque psoriasis. Real-world data based on a representative pool of patients are currently lacking. OBJECTIVE: To assess the mid- and long-term safety and efficacy profile of risankizumab in patients with moderate-to-severe psoriasis in the routine clinical practice. METHODS: This was a retrospective and multicenter study of consecutive psoriatic patients on risankizumab from April 2020 through November 2022. The primary endpoint was the number of patients who achieved a 100% improvement in their Psoriasis Area and Severity Index (PASI) (PASI100) on week 52. RESULTS: A total of 510 patients, 198 (38.8%) women and 312 (61.2%) men were included in the study. The mean age was 51.7±14.4 years. A total of 227 (44.5%) study participants were obese (body mass index [BMI] >30kg/m2). The mean baseline PASI score was 11.4±7.2, and the rate of patients who achieved PASI100 on week 52, 67.0%. Throughout the study follow-up, 21%, 50.0%, 59.0%, and 66% of the patients achieved PASI100 on weeks 4, 16, 24, and 40, respectively. The number of patients who achieved a PASI ≤2 was greater in the group with a BMI ≤30kg/m2 on weeks 4 (P=.04), 16 (P=.001), and 52 (P=.002). A statistically significantly greater number of patients achieved PASI100 in the treatment-naïve group on weeks 16 and 52 (P=.001 each, respectively). On week 16 a significantly lower number of participants achieved PASI100 in the group with psoriatic arthropathy (P=.04). Among the overall study sample, 22 (4.3%) patients reported some type of adverse event and 20 (3.9%) discontinued treatment. CONCLUSIONS: Risankizumab proved to be a safe and effective therapy for patients with moderate-to-severe psoriasis in the routine clinical practice.

6.
Artigo em Inglês | MEDLINE | ID: mdl-38153843

RESUMO

BACKGROUND: Prediction of the response to a biological treatment in psoriasis patients would allow efficient treatment allocation. OBJECTIVE: To identify polymorphisms associated with secukinumab response in psoriasis patients in a daily practice setting. METHODS: We studied 180 SNPs in patients with moderate-to-severe plaque psoriasis recruited from 15 Spanish hospitals. Treatment effectiveness was evaluated by absolute PASI ≤3 and ≤1 at 6 and 12 months. Individuals were genotyped using a custom Taqman array. Multiple logistic regression models were generated. Sensitivity, specificity and area under the curve (AUC) were analysed. RESULTS: A total of 173 patients were studied at 6 months, (67% achieved absolute PASI ≤ 3 and 65% PASI ≤ 1) and 162 at 12 months (75% achieved absolute PASI ≤ 3 and 64% PASI ≤ 1). Multivariable analysis showed the association of different sets of SNPs with the response to secukinumab. The model of absolute PASI≤3 at 6 months showed best values of sensitivity and specificity. Four SNPs were associated with the capability of achieving absolute PASI ≤ 3 at 6 months. rs1801274 (FCGR2A), rs2431697 (miR-146a) and rs10484554 (HLCw6) were identified as risk factors for failure to achieve absolute PASI≤3, while rs1051738 (PDE4A) was protective. AUC including these genotypes, weight of patients and history of biological therapy was 0.88 (95% CI 0.83-0.94), with a sensitivity of 48.6% and specificity of 95.7% to discriminate between both phenotypes. CONCLUSION: We have identified a series of polymorphisms associated with the response to secukinumab capable of predicting the potential response/non-response to this drug in patients with plaque psoriasis.

7.
Actas Dermosifiliogr ; 2023 Nov 02.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37925068

RESUMO

BACKGROUND: Generalized pustular psoriasis (GPP) is a rare and severe inflammatory skin disease characterised by recurrent or intermittent flares. Epidemiological and disease management data in Spain are limited. Our goal was to estimate the epidemiology of GPP, explore its management, and reach consensus on the current challenges faced in Spain. METHODS: An electronic survey was submitted to dermatologists from the Spanish Academy of Dermatology and Venereology Psoriasis Working Group. This group is experienced in the management of GPP. It included a Delphi consensus to establish the current challenges. RESULTS: A total of 33 dermatologists responded to the survey. A 5-year prevalence and incidence of 13.05 and 7.01 cases per million inhabitants, respectively, were estimated. According to respondents, the most common GPP symptoms are pustules, erythema, and desquamation, while 45% of patients present > 1 annual flares. A total of 45% of respondents indicated that flares often require a length of stay between 1 and 2 weeks. In the presence of a flare, 67% of respondents often or always prescribe a non-biological systemic treatment as the first-line therapy [cyclosporine (55%); oral retinoid (30%)], and 45% a biological treatment [anti-TNFα (52%); anti-IL-17 (39%)]. The dermatologists agreed that the main challenges are to define and establish specific therapeutic goals to treat the disease including the patients' perspective on the management of the disease. CONCLUSION: Our study describes the current situation on the management of GPP in Spain, increasing the present knowledge on the disease, and highlighting the current challenges faced at the moment.

8.
Actas Dermosifiliogr ; 114(9): 802-811, 2023 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37244396

RESUMO

Managing moderate to severe psoriasis in older adults is complex due to factors characteristic of the later years of life, such as associated comorbidity, polypharmacy, and immunosenescence. This consensus statement discusses 17 recommendations for managing treatment for moderate to severe psoriasis in patients older than 65 years. The recommendations were proposed by a committee of 6 dermatologists who reviewed the literature. Fifty-one members of the Psoriasis Working Group of the Spanish Academy of Dermatology and Venereology (AEDV) then applied the Delphi process in 2 rounds to reach consensus on which principles to adopt. The recommendations can help to improve management, outcomes, and prognosis for older adults with moderate to severe psoriasis.


Assuntos
Dermatologia , Psoríase , Venereologia , Humanos , Idoso , Psoríase/tratamento farmacológico
9.
Actas Dermosifiliogr ; 114(6): 494-501, 2023 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36906260

RESUMO

The advent of biosimilar drugs and their use in routine clinical practice has revolutionized the management of moderate to severe psoriasis and led to changes in the positioning of the existing molecules used to control this condition. Evidence from clinical trials complemented by real-world experience has helped to clarify concepts and has significantly changed the use and positioning of biologic agents in this setting. The present document is an update on the position of the Spanish Psoriasis Working Group regarding the use of biosimilar drugs, which takes into account this new situation.


Assuntos
Medicamentos Biossimilares , Psoríase , Humanos , Medicamentos Biossimilares/uso terapêutico , Índice de Gravidade de Doença , Psoríase/tratamento farmacológico
10.
Actas Dermosifiliogr ; 114(7): 587-605, 2023.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36806634

RESUMO

Quality indicators are crucial for standardizing and guaranteeing the quality of health care practices. The Spanish Academy of Dermatology and Venereology (AEDV) launched the CUDERMA Project to define quality indicators for the certification of specialized units in dermatology; the first 2areas selected were psoriasis and dermato-oncology. The aim of this study was to achieve consensus on what should be evaluated by these indicators using a structured process comprising a literature review and selection of an initial list of indicators to be evaluated in a Delphi consensus study following review by a multidisciplinary group of experts. The selected indicators were evaluated by a panel of 28 dermatologists and classified as either «essential¼ or «of excellence¼. The panel agreed on 84 indicators, which will be standardized and used to develop the certification standard for dermato-oncology units.


Assuntos
Dermatologia , Indicadores de Qualidade em Assistência à Saúde , Humanos , Técnica Delphi , Consenso , Certificação
11.
Actas Dermosifiliogr ; 114(10): 865-883, 2023.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36796538

RESUMO

Defining quality indicators is a key strategy for ensuring the quality and standardization of health care. The CUDERMA project, an initiative of the Spanish Academy of Dermatology and Venerology (AEDV), was undertaken to define quality indicators for the certification of specialized units in dermatology; the first 2 areas selected were psoriasis and dermato-oncology. The aim of this study was to reach a consensus on what should be assessed by the indicators used to certify psoriasis units. The structured process used to do this comprised a literature review to identify potential indicators, the selection of an initial set of indicators to be evaluated by a multidisciplinary group of experts and, finally, a Delphi consensus study. A panel of 39 dermatologists evaluated the selected indicators and classified them as either "essential" or "of excellence". Consensus was finally reached on 67 indicators, which will be standardized and used to develop the certification standard for psoriasis units.


Assuntos
Psoríase , Indicadores de Qualidade em Assistência à Saúde , Humanos , Técnica Delphi , Psoríase/terapia
12.
J Eur Acad Dermatol Venereol ; 36(1): 60-67, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34543474

RESUMO

BACKGROUND: Psoriasis has important physical and psychosocial effects that extend beyond the skin. Understanding the impact of treatment on health-related quality of life (HRQoL) and patient-perceived symptom severity in psoriasis is key to clinical decision-making. OBJECTIVES: This post hoc analysis of the PSO-LONG trial data assessed the impact of long-term proactive or reactive management with fixed-dose combination calcipotriene 50 µg/g and betamethasone dipropionate 0.5 mg/g (Cal/BD) foam on patient-reported outcomes (PROs) in patients with psoriasis vulgaris. METHODS: Five hundred and twenty-one patients from the Phase 3, randomized, double-blind PSO-LONG trial were included. An initial 4-week, open-label phase of fixed-dose combination Cal/BD foam once daily (QD) was followed by a 52-week maintenance phase, at the start of which patients were randomized to a proactive management arm (Cal/BD foam twice weekly) or reactive management arm (vehicle foam twice weekly). Patient-perceived symptom severity and HRQoL were assessed using the Psoriasis Symptom Inventory (PSI), the Dermatology Life Quality Index (DLQI) and the EuroQol-5D for psoriasis (EQ-5D-5L-PSO). RESULTS: Statistically and clinically significant improvements were observed across all PRO measures. The mean difference (standard deviation) from baseline to Week 4 was -8.97 (6.18) for PSI, -6.02 (5.46) for DLQI and 0.11 (0.15) for EQ-5D-5L-PSO scores. During maintenance, patients receiving reactive management had significantly higher DLQI (15% [p = 0.007]) and PSI (15% [p = 0.0128]) and a numerically lower EQ-5D-5L-PSO mean area under the curve score than patients receiving proactive management (1% [p = 0.0842]). CONCLUSIONS: Cal/BD foam significantly improved DLQI, EQ-5D-5L-PSO and PSI scores during the open-label and maintenance phases. Patients assigned to proactive management had significantly better DLQI and PSI scores and numerically better EQ-5D-5L-PSO versus reactive management. Additionally, baseline flare was associated with worse PROs than the start of a relapse, and patients starting a relapse also had worse PROs than patients in remission.


Assuntos
Fármacos Dermatológicos , Psoríase , Betametasona , Fármacos Dermatológicos/uso terapêutico , Combinação de Medicamentos , Humanos , Psoríase/tratamento farmacológico , Qualidade de Vida , Resultado do Tratamento
13.
Actas Dermosifiliogr ; 113(7): 666-673, 2022.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35292237

RESUMO

OBJECTIVE: To analyze degree of implementation of recommendations on the management of psoriasis during preconception, pregnancy, postpartum, breastfeeding, and perinatal care published by the Psoriasis Working Group of the Spanish Academy of Dermatology and Venereology (AEDV). METHODS: We designed a structured online survey consisting of closed questions. A link was emailed to all the members of the Psoriasis Working Group to collect their anonymous responses. We also collected sociodemographic, professional, and practice-related data related to the goals of the study and then compiled descriptive statistics to analyze the survey findings. RESULTS: We received 53 responses for analysis. Overall, 96% of respondents were familiar with the recommendations, but very few of them worked in multidisciplinary maternity care units or had access to specific protocols on the management of psoriasis before, during, and after pregnancy in their departments. Seventy percent of dermatologists regularly ask their patients about pregnancy plans, but only 46% ask both men and women. Women also receive more preconception advice than men (54% vs. 19%). Significant variations were observed in the type of advice given. Ninety percent of the dermatologists interrupt topical treatments during pregnancy, and nearly all suspend conventional systemic drugs with the exception of cyclosporin A. Most biologics are also being discontinued in the third trimester, with the exception of certolizumab pegol. Almost all the respondents indicated that they use topical treatments, phototherapy, and certolizumab pegol in breastfeeding mothers. The main barriers to implementing the working group's recommendations are a lack of time, a lack of support, and a lack of robust data. CONCLUSIONS: Although the AEDV psoriasis working group's recommendations are widely known, areas for improvement remain.


Assuntos
Serviços de Saúde Materna , Psoríase , Aleitamento Materno , Certolizumab Pegol/uso terapêutico , Criança , Feminino , Humanos , Recém-Nascido , Masculino , Assistência Perinatal , Período Pós-Parto , Gravidez , Psoríase/tratamento farmacológico
14.
Actas Dermosifiliogr ; 113(5): 467-480, 2022 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35697406

RESUMO

BACKGROUND AND OBJECTIVE: No recent data on health care resources and medical and surgical activity in Spanish dermatology departments are available in the literature. The aim of this study was to compile this information for 2019. MATERIAL AND METHODS: Cross-sectional study based on an online survey sent to the heads of dermatology departments at public hospitals in Spain. RESULTS: Of the 162 department heads contacted, 59 answered the survey (participation rate, 36.4%). General findings included a shortage of staff, especially dermatologists, in hospitals of low and medium complexity. The main reason given for the shortage of dermatologists was a lack of interested applicants. Large hospital complexes had more infrastructure and equipment. Over 50% of the departments surveyed used a combination of in-person and virtual visits. Psoriasis units were the most common specialized care units. Approximately 75% of the hospitals had operating rooms with an anesthetist. More complex procedures such as sentinel lymph node biopsy and Mohs micrographic surgery were performed more often in large hospital complexes. Hospitalization and the presence of dermatology residents working call shifts were also more common in these hospitals. Teaching and research activity differed according to hospital complexity. CONCLUSIONS: We have mapped health care resource availability and medical and surgical activity in Spanish dermatology departments prior to the COVID-19 pandemic. Our findings could be useful for improving clinical management and defining future actions and areas for improvement.


Assuntos
COVID-19 , Dermatologia , COVID-19/epidemiologia , Estudos Transversais , Atenção à Saúde , Hospitais Públicos , Humanos , Pandemias
15.
Actas Dermosifiliogr ; 113(6): 583-609, 2022 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35570005

RESUMO

BACKGROUND AND OBJECTIVES: Since its inception, the Psoriasis Group (GPs) of the Spanish Academy of Dermatology and Venereology (AEDV) has worked to continuously update recommendations for the treatment of psoriasis based on the best available evidence and incorporating proposals arising from and aimed at clinical practice. An updated GPs consensus document on the treatment of moderate to severe psoriasis was needed because of changes in the treatment paradigm and the approval in recent years of a large number of new biologic agents. METHODOLOGY: The consensus document was developed using the nominal group technique complemented by a scoping review. First, a designated coordinator selected a group of GPs members for the panel based on their experience and knowledge of psoriasis. The coordinator defined the objectives and key points for the document and, with the help of a documentalist, conducted a scoping review of articles in Medline, Embase, and the Cochrane Library up to January 2021. The review included systematic reviews and meta-analyses as well as clinical trials not included in those studies and high-quality real-world studies. National and international clinical practice guidelines and consensus documents on the management of moderate to severe psoriasis were also reviewed. The coordinator then drew up a set of proposed recommendations, which were discussed and modified in a nominal group meeting. After several review processes, including external review by other GPs members, the final document was drafted. RESULTS: The present guidelines include updated recommendations on assessing the severity of psoriasis and criteria for the indication of systemic treatment. They also include general principles for the treatment of patients with moderate to severe psoriasis and define treatment goals for these patients as well as criteria for the indication and selection of initial and subsequent therapies Practical issues, such as treatment failure and maintenance of response, are also addressed.


Assuntos
Dermatologia , Psoríase , Venereologia , Fatores Biológicos/uso terapêutico , Humanos , Psoríase/tratamento farmacológico , Índice de Gravidade de Doença
16.
Actas Dermosifiliogr ; 113(3): 261-277, 2022 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35526919

RESUMO

BACKGROUND AND OBJECTIVES: A new, updated AEDV Psoriasis Group consensus document on the treatment of moderate to severe psoriasis was needed owing to the approval, in recent years, of a large number of new drugs and changes in the treatment paradigm. METHODOLOGY: The consensus document was developed using the nominal group technique and a scoping review. First, a designated coordinator selected a group of Psoriasis Group members for the panel. The coordinator defined the objectives and key points for the document and, with the help of a documentalist, conducted a scoping review of articles in Medline, Embase, and the Cochrane Library up to January 2021. The review included systematic reviews and meta-analyses as well as clinical trials not included in those studies and high-quality real-world studies. National and international clinical practice guidelines and consensus documents on the management of moderate to severe psoriasis were also reviewed. Based on these reviews, the coordinator drew up a set of proposed recommendations, which were then discussed and modified in a nominal group meeting. After several review processes, including external review by other GPs members, the final document was drafted. RESULTS: The present guidelines include general principles for the treatment of patients with moderate to severe psoriasis and also define treatment goals and criteria for the indication of biologic therapy and the selection of initial and subsequent therapies. Practical issues, such as treatment failure and maintenance of response, are also addressed.


Assuntos
Dermatologia , Psoríase , Venereologia , Terapia Biológica , Humanos , Psoríase/tratamento farmacológico , Índice de Gravidade de Doença
17.
Actas Dermosifiliogr ; 113(4): 401-406, 2022 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35428502

RESUMO

Childhood-onset psoriasis generally follows an indolent course but patients with moderate or severe disease may require systemic treatment. The aim of this study was to determine the relative proportion of children and young people aged up to 21 years with moderate to severe psoriasis in the BIOBADADERM registry and to analyze the characteristics of these patients, treatments used, and adverse events. Of the 3946 patients in the registry, 24 were aged 21 years or younger. They had mean age of 16.1 years on starting treatment. When the registry was started, they had a Psoriasis Area and Severity Index of 9.4 and 67% were being treated with a conventional systemic drug. Treatment was discontinued in 14 patients (58%) due to adverse events or a loss or lack of effectiveness. In conclusion, the BIOBADADERM registry shows that young people account for a small proportion of psoriasis patients receiving systemic treatment, and they are more likely to be treated using conventional systemic drugs.


Assuntos
Produtos Biológicos , Psoríase , Adolescente , Produtos Biológicos/uso terapêutico , Criança , Humanos , Psoríase/induzido quimicamente , Psoríase/tratamento farmacológico , Psoríase/epidemiologia , Sistema de Registros
18.
Clin Exp Dermatol ; 46(2): 300-305, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32840927

RESUMO

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. AIM: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. METHODS: We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. RESULTS: In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. CONCLUSIONS: Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.


Assuntos
Malformações Arteriovenosas/patologia , Encéfalo/patologia , Capilares/anormalidades , Mancha Vinho do Porto/patologia , Pele/patologia , Coluna Vertebral/patologia , Malformações Vasculares/patologia , Adulto , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/epidemiologia , Malformações Arteriovenosas/genética , Encéfalo/irrigação sanguínea , Capilares/patologia , Criança , Pré-Escolar , Análise de Dados , Feminino , Estudos de Associação Genética , Humanos , Achados Incidentais , Lactente , Masculino , Mutação , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/epidemiologia , Mancha Vinho do Porto/genética , Prevalência , Receptor EphB4/genética , Pele/irrigação sanguínea , Espanha/epidemiologia , Coluna Vertebral/irrigação sanguínea , Malformações Vasculares/diagnóstico , Malformações Vasculares/genética , Proteína p120 Ativadora de GTPase/genética
19.
Pharmacogenomics J ; 18(1): 70-75, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-27670765

RESUMO

Anti-tumor necrosis factor (anti-TNF) drugs are effective against psoriasis, although 20-30% of patients are nonresponders. Few pharmacogenomic studies have been performed to predict the response to anti-TNF drugs in psoriasis. We studied 173 polymorphisms to establish an association with the response to anti-TNF drugs in patients with moderate-to-severe plaque psoriasis (N=144). We evaluated the response using PASI75 at 3, 6 and 12 months. The results of the multivariate analysis showed an association between polymorphisms in PGLYR4, ZNF816A, CTNNA2, IL12B, MAP3K1 and HLA-C genes and the response at 3 months. Besides, the results for polymorphisms in IL12B and MAP3K1 were replicated at 6 months. We also obtained significant results for IL12B polymorphism at 1 year. Moreover, polymorphisms in FCGR2A, HTR2A and CDKAL1 were significant at 6 months. This is the first study to show an association with these polymorphisms. However, these biomarkers should be validated in large-scale studies before implementation in clinical practice.


Assuntos
Fármacos Dermatológicos/uso terapêutico , Polimorfismo de Nucleotídeo Único/genética , Psoríase/tratamento farmacológico , Psoríase/genética , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Biomarcadores/metabolismo , Feminino , Genótipo , Humanos , Masculino , Farmacogenética/métodos , Psoríase/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA