RESUMO
Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. Methods A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 24; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 23; mean 2.61) vs 2 (IQR 23; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. Conclusions DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments. (AU)
Antecedentes: La telangiectasia hemorrágica hereditaria (THH) se caracteriza por la presencia de telangiectasias y malformaciones arteriovenosas de mayor tamaño en diferentes órganos. Las telangiectasias a nivel mucocutáneo pueden sangrar y convertirse en un problema estético, afectando la calidad de vida (CdV). Sin embargo, aún no se ha definido su mejor enfoque terapéutico. Objetivo: Evaluar la eficacia y la seguridad del láser dual secuencial de longitud de onda de 595/1064nm (DWSL) en comparación con el láser de 1064nm (Nd:YAG) solo. Por otro lado, evaluar el deterioro de la calidad de vida en los pacientes con THH y su mejora tras la terapia con láser. Métodos: Estudio prospectivo, doble ciego, aleatorizado, comparativo, de cuerpo dividido (DWSL vs. Nd:YAG). Se registraron las características demográficas, clínicas y del tratamiento. La gravedad y el grado de mejora fueron evaluados por tres examinadores ciegos que calificaron las imágenes previas al tratamiento y posteriores al tratamiento en una escala de 5 puntos. Los pacientes cumplimentaron las pruebas Skindex-29 y FACE-Q® y se evaluó el dolor asociado al procedimiento y la satisfacción del paciente. Resultados: Se analizaron 111 áreas de tratamiento (55 tratadas con DWSL y 56 con Nd:YAG) de 26 pacientes. La mediana del número de sesiones de láser fue de 2 (rango intercuartílico [RIC] 2-4; media 2,90 vs. 2,88, respectivamente). La mediana de la puntuación de mejora, independientemente de la ubicación, fue significativamente mayor para Nd:YAG en comparación con DWSL: 3 (IQR 2-3; media 2,61) frente a 2 (IQR 2-3; media 2,32), p=0,031. Tanto el índice FACE-Q como los resultados de la prueba Skindex-29 mejoraron significativamente (p<0,001), y el 92,4% de los pacientes informaron un alto grado de satisfacción (≥8). No se informaron eventos adversos graves... (AU)
Assuntos
Humanos , Telangiectasia Hemorrágica Hereditária , Lasers de Estado Sólido , Qualidade de Vida , Malformações Arteriovenosas , Terapia a Laser , Telangiectasia Retiniana , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
Antecedentes: La telangiectasia hemorrágica hereditaria (THH) se caracteriza por la presencia de telangiectasias y malformaciones arteriovenosas de mayor tamaño en diferentes órganos. Las telangiectasias a nivel mucocutáneo pueden sangrar y convertirse en un problema estético, afectando la calidad de vida (CdV). Sin embargo, aún no se ha definido su mejor enfoque terapéutico. Objetivo: Evaluar la eficacia y la seguridad del láser dual secuencial de longitud de onda de 595/1064nm (DWSL) en comparación con el láser de 1064nm (Nd:YAG) solo. Por otro lado, evaluar el deterioro de la calidad de vida en los pacientes con THH y su mejora tras la terapia con láser. Métodos: Estudio prospectivo, doble ciego, aleatorizado, comparativo, de cuerpo dividido (DWSL vs. Nd:YAG). Se registraron las características demográficas, clínicas y del tratamiento. La gravedad y el grado de mejora fueron evaluados por tres examinadores ciegos que calificaron las imágenes previas al tratamiento y posteriores al tratamiento en una escala de 5 puntos. Los pacientes cumplimentaron las pruebas Skindex-29 y FACE-Q® y se evaluó el dolor asociado al procedimiento y la satisfacción del paciente. Resultados: Se analizaron 111 áreas de tratamiento (55 tratadas con DWSL y 56 con Nd:YAG) de 26 pacientes. La mediana del número de sesiones de láser fue de 2 (rango intercuartílico [RIC] 2-4; media 2,90 vs. 2,88, respectivamente). La mediana de la puntuación de mejora, independientemente de la ubicación, fue significativamente mayor para Nd:YAG en comparación con DWSL: 3 (IQR 2-3; media 2,61) frente a 2 (IQR 2-3; media 2,32), p=0,031. Tanto el índice FACE-Q como los resultados de la prueba Skindex-29 mejoraron significativamente (p<0,001), y el 92,4% de los pacientes informaron un alto grado de satisfacción (≥8). No se informaron eventos adversos graves... (AU)
Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. Methods: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 24; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 23; mean 2.61) vs 2 (IQR 23; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. Conclusions: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments. (AU)
Assuntos
Humanos , Telangiectasia Hemorrágica Hereditária , Lasers de Estado Sólido , Qualidade de Vida , Malformações Arteriovenosas , Terapia a Laser , Telangiectasia Retiniana , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.
Assuntos
Alumínio , Lasers de Corante , Lasers de Estado Sólido , Telangiectasia Hemorrágica Hereditária , Telangiectasia , Ítrio , Humanos , Lasers de Corante/efeitos adversos , Lasers de Estado Sólido/efeitos adversos , Neodímio , Estudos Prospectivos , Qualidade de Vida , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia/etiologia , Telangiectasia/radioterapia , Resultado do TratamentoRESUMO
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. OBJECTIVE: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. METHODS: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. RESULTS: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. CONCLUSIONS: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.
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/genéticaRESUMO
No disponible
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Pandemias , Isolamento Social , Púrpura/virologia , Estudos Retrospectivos , EspanhaAssuntos
COVID-19 , Pérnio , Pérnio/diagnóstico , Humanos , Estudos Retrospectivos , SARS-CoV-2 , Espanha/epidemiologiaRESUMO
BACKGROUND: A long-term prospective observational safety study is essential to characterize fully the safety profile of systemic immunomodulating therapies for patients with atopic eczema. The TREatment of ATopic eczema (TREAT) Registry Taskforce offers a large platform to conduct such research using national registries that collect the same data using a predefined core dataset. OBJECTIVES: To present a protocol for a safety study comparing dupilumab with other systemic immunomodulating therapies in children and adults with moderate-to-severe atopic eczema, to assess the long-term safety risk of these therapies in a routine clinical care setting. METHODS: We describe a registry-embedded international observational prospective cohort study. Adult and paediatric patients who start treatment with dupilumab or another systemic immunomodulating agent for their atopic eczema will be included. The primary end point is the incidence of malignancies (excluding nonmelanoma skin cancer) compared between the treatment groups. Secondary end points include other serious adverse events and adverse events of special interest, such as eye disorders and eosinophilia. CONCLUSIONS: This protocol delineates a safety study for dupilumab in adult and paediatric patients with atopic eczema, using a standardized methodological approach across several national registries. The protocol could also be used for other novel systemic immunomodulating therapies, and could provide licensing and reimbursement authorities, pharmaceutical companies and clinicians with safety evidence from a routine clinical care setting. What's already known about this topic? There is a need for long-term data on the safety of systemic immunomodulating therapies in patients with atopic eczema. Regulatory bodies, such as the European Medicines Agency, increasingly stipulate the collection of such data as part of the licensing agreement for new treatments, to assess the new agent's long-term safety profile against established therapies. Large numbers of patients with a long duration of follow-up are necessary in order to detect rare events like malignancies. What does this study add? The TREAT Registry Taskforce offers a platform to conduct such research with a network of multiple national atopic eczema research registries. We present a protocol for an investigator-initiated multicentre safety study comparing dupilumab with other systemic immunomodulating therapies in adults and subsequently adolescents and children with moderate-to-severe atopic eczema. This protocol can be used as a framework for similar studies for other novel systemic immunomodulating therapies across both adult and paediatric populations.
Assuntos
Dermatite Atópica , Eczema , Adolescente , Adulto , Anticorpos Monoclonais Humanizados , Criança , Dermatite Atópica/tratamento farmacológico , Humanos , Estudos Observacionais como Assunto , Estudos Prospectivos , Sistema de Registros , Resultado do TratamentoRESUMO
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the role of the stromal microenvironment in the pathology of these disorders. OBJECTIVES: To investigate, by means of comparative gene expression analysis, the role played by dermal fibroblasts in the pathogenesis of RDEB, KS and XPC. METHODS: We conducted RNA-Seq analysis, which included a thorough examination of the differentially expressed genes, a functional enrichment analysis and a description of affected signalling circuits. Transcriptomic data were validated at the protein level in cell cultures, serum samples and skin biopsies. RESULTS: Interdisease comparisons against control fibroblasts revealed a unifying signature of 186 differentially expressed genes and four signalling pathways in the three genodermatoses. Remarkably, some of the uncovered expression changes suggest a synthetic fibroblast phenotype characterized by the aberrant expression of extracellular matrix (ECM) proteins. Western blot and immunofluorescence in situ analyses validated the RNA-Seq data. In addition, enzyme-linked immunosorbent assay revealed increased circulating levels of periostin in patients with RDEB. CONCLUSIONS: Our results suggest that the different causal genetic defects converge into common changes in gene expression, possibly due to injury-sensitive events. These, in turn, trigger a cascade of reactions involving abnormal ECM deposition and underexpression of antioxidant enzymes. The elucidated expression signature provides new potential biomarkers and common therapeutic targets in RDEB, XPC and KS. What's already known about this topic? Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three genodermatoses with high predisposition to cancer development. Although their causal genetic mutations mainly affect epithelia, the dermal microenvironment likely contributes to the physiopathology of these disorders. What does this study add? We disclose a large overlapping transcription profile between XPC, KS and RDEB fibroblasts that points towards an activated phenotype with high matrix-synthetic capacity. This common signature seems to be independent of the primary causal deficiency, but reflects an underlying derangement of the extracellular matrix via transforming growth factor-ß signalling activation and oxidative state imbalance. What is the translational message? This study broadens the current knowledge about the pathology of these diseases and highlights new targets and biomarkers for effective therapeutic intervention. It is suggested that high levels of circulating periostin could represent a potential biomarker in RDEB.
Assuntos
Vesícula/patologia , Epidermólise Bolhosa Distrófica/patologia , Epidermólise Bolhosa/patologia , Matriz Extracelular/patologia , Fibroblastos/patologia , Doenças Periodontais/patologia , Transtornos de Fotossensibilidade/patologia , Pele/patologia , Xeroderma Pigmentoso/patologia , Adolescente , Adulto , Biópsia , Vesícula/genética , Estudos de Casos e Controles , Células Cultivadas , Criança , Pré-Escolar , Epidermólise Bolhosa/genética , Epidermólise Bolhosa Distrófica/genética , Proteínas da Matriz Extracelular/metabolismo , Feminino , Fibrose , Regulação da Expressão Gênica , Voluntários Saudáveis , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Mutação , Doenças Periodontais/genética , Transtornos de Fotossensibilidade/genética , Cultura Primária de Células , RNA-Seq , Pele/citologia , Xeroderma Pigmentoso/genética , Adulto JovemRESUMO
BACKGROUND: Infantile haemangiomas (IH) are soft swellings of the skin that occur in 3-10% of infants. When haemangiomas occur in high-risk areas or when complications develop, active intervention is necessary. OBJECTIVE: To update a Cochrane Review assessing the interventions for the management of IH in children. METHODS: We searched for randomized controlled trials in CENTRAL, MEDLINE, Embase, LILACS, AMED, PsycINFO, CINAHL and six trials registers up to February 2017. We included 28 trials (1728 participants) assessing 12 interventions. RESULTS: We downgraded evidence from high to moderate/low for issues related to risk of bias and imprecision. Oral propranolol (3 mg kg-1 daily) probably improves clinician-assessed clearance vs placebo [risk ratio (RR) 16·61, 95% confidence interval (CI) 4·22-65·34; moderate quality of evidence (QoE)]; we found no evidence of a difference in terms of serious adverse events (RR 1·05, 95% CI 0·33-3·39; low QoE). We found the chance of reduction of redness may be improved with topical timolol maleate (0·5% gel applied twice daily) when compared with placebo (RR 8·11, 95% CI 1·09-60·09; low QoE). We found no instances of bradycardia or hypotension for this comparison. CONCLUSIONS: Our key results indicate that oral propranolol and topical timolol maleate are more beneficial than placebo in terms of clearance or other measures of resolution, or both, without an increase in harm.
Assuntos
Antagonistas Adrenérgicos beta/administração & dosagem , Hemangioma/tratamento farmacológico , Propranolol/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Timolol/administração & dosagem , Administração Cutânea , Administração Oral , Antagonistas Adrenérgicos beta/efeitos adversos , Bradicardia/induzido quimicamente , Bradicardia/epidemiologia , Abordagem GRADE , Humanos , Hipotensão/induzido quimicamente , Hipotensão/epidemiologia , Placebos/administração & dosagem , Placebos/efeitos adversos , Propranolol/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Timolol/efeitos adversosAssuntos
Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Neoplasias de Tecido Vascular/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Cutâneas/genética , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Exoma/genética , Feminino , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/metabolismo , Mutação com Ganho de Função , Humanos , Neoplasias de Tecido Vascular/diagnóstico , Neoplasias de Tecido Vascular/patologia , Proteínas Proto-Oncogênicas p21(ras)/metabolismo , Pele/irrigação sanguínea , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
El síndrome de Sturge Weber es un trastorno neurocutáneo congénito, esporádico causado por una mutación somática activadora en el gen GNAQ, con una incidencia de uno de cada 20,000-50,000 nacidos. Se caracteriza por la presencia de una mancha en vino de Oporto facial, angiomatosis leptomeníngea y glaucoma. La manifestación neurológica más común son las convulsiones, que suelen comenzar en los primeros meses de vida. El glaucoma puede estar presente desde el nacimiento o desarrollarse posteriormente. Los estudios de neuroimagen permiten visualizar la angiomatosis leptomeníngea, ayudando al diagnóstico del síndrome de Sturge Weber. El tratamiento estándar incluye láser para la mancha en vino de Oporto facial, anticonvulsivantes y tratamiento médico o quirúrgico del glaucoma. El pronóstico de la enfermedad dependerá de la extensión de la malformación leptomeníngea y del grado de afectación ocular (AU)
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma (AU)
Assuntos
Humanos , Síndrome de Sturge-Weber/diagnóstico , Síndromes Neurocutâneas/diagnóstico , Mancha Vinho do Porto/diagnóstico , Angiomatose/diagnóstico , Glaucoma/diagnóstico , Predisposição Genética para Doença , Anormalidades Maxilofaciais/epidemiologiaRESUMO
No disponible
Assuntos
Humanos , Masculino , Recém-Nascido , Tumor Glômico/cirurgia , Angioplastia a Laser/métodos , Neoplasias Cutâneas/cirurgia , Lasers de Estado Sólido/uso terapêutico , Neoplasias Cutâneas/congênito , Tumor Glômico/congênitoRESUMO
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma.
Assuntos
Síndrome de Sturge-Weber , Anticonvulsivantes/uso terapêutico , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/prevenção & controle , Diagnóstico Precoce , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Glaucoma/tratamento farmacológico , Glaucoma/etiologia , Humanos , Lasers de Corante/uso terapêutico , Meninges/irrigação sanguínea , Meninges/embriologia , Meninges/patologia , Neuroimagem , Mancha Vinho do Porto/etiologia , Mancha Vinho do Porto/cirurgia , Convulsões/tratamento farmacológico , Convulsões/etiologia , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/genética , Síndrome de Sturge-Weber/patologia , Síndrome de Sturge-Weber/terapia , Veias/embriologiaAssuntos
Doenças em Gêmeos/radioterapia , Tumor Glômico/radioterapia , Doenças do Prematuro/radioterapia , Lasers de Corante/uso terapêutico , Lasers de Estado Sólido/uso terapêutico , Terapia com Luz de Baixa Intensidade/métodos , Neoplasias Cutâneas/radioterapia , Estética , Seguimentos , Tumor Glômico/congênito , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Ombro , Neoplasias Cutâneas/congênitoRESUMO
BACKGROUND: Oral propranolol is widely prescribed as first-line treatment for infantile haemangiomas (IHs). Anecdotally, prescribing practice differs widely between centres. OBJECTIVES: The Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce was founded to establish patterns of use of propranolol in IHs. METHODS: Participating centres entered data on all of their patients who had completed treatment with oral propranolol for IHs, using an online data capture tool. RESULTS: The study cohort comprised 1097 children from 39 centres in eight European countries. 76·1% were female and 92·8% had a focal IH, with the remainder showing a segmental, multifocal or indeterminate pattern. The main indications for treatment were periocular location (29·3%), risk of cosmetic disfigurement (21·1%) and ulceration and bleeding (20·6%). In total 69·2% of patients were titrated up to a maintenance regimen, which consisted of 2 mg kg(-1) per day (85·8%) in the majority of cases. 91·4% of patients had an excellent or good response to treatment. Rebound growth occurred in 14·1% upon stopping, of whom 53·9% were restarted and treatment response was recaptured in 91·6% of cases. While there was no significant difference in the treatment response, comparing a daily maintenance dose of < 2 mg kg(-1) vs. 2 mg kg(-1) vs. > 2 mg kg(-1) , the risk of adverse events was significantly higher: odds ratio (OR) 1 vs. adjusted OR 0·70, 95% confidence interval (CI) 0·33-1·50, P = 0·36 vs. OR 2·38, 95% CI 1·04-5·46, P = 0·04, Ptrend < 0·001. CONCLUSIONS: The PITCH survey summarizes the use of oral propranolol across 39 European centres, in a variety of IH phases, and could be used to inform treatment guidelines and the design of an interventional study.
Assuntos
Antineoplásicos/administração & dosagem , Hemangioma/tratamento farmacológico , Propranolol/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Administração Oral , Antineoplásicos/efeitos adversos , Relação Dose-Resposta a Droga , Feminino , Humanos , Lactente , Masculino , Propranolol/efeitos adversos , Resultado do TratamentoAssuntos
Ictiose Lamelar/terapia , Alopecia/prevenção & controle , Terapia Genética/métodos , Prioridades em Saúde , Humanos , Recém-Nascido , Relações Interprofissionais , Ceratolíticos/uso terapêutico , Assistência Perinatal/organização & administração , Prurido/etiologia , Qualidade de Vida , Retinoides/efeitos adversosRESUMO
No disponible
Assuntos
Humanos , Masculino , Lactente , Dermatite de Contato/diagnóstico , Eritema/diagnóstico , Diagnóstico DiferencialRESUMO
La afectación cutánea, en sus diferentes formas y como consecuencia de distintos mecanismos implicados, constituye una patología prevalente en los pacientes con enfermedad inflamatoria intestinal (EII), tanto adultos como pediátricos. En este artículo se lleva a cabo una revisión de las diferentes patologías cutáneas asociadas a la EII, incluyendo las manifestaciones extraintestinales de la EII, efectos adversos de los tratamientos para el control de la EII, prevención de riesgos y otras situaciones
Skin manifestations are a prevalent pathology observed in pediatric and adult patients with inflammatory bowel disease (IBD). In the following paper cutaneous diseases associated to IBD are reviewed, including extraintestinal IBD manifestations, adverse effects associated to IBD treatment, risk prevention and other situations
