Publications by authors named "Tercedor-Sanchez J"

Article Synopsis
  • - Methotrexate (MTX) is commonly used to treat moderate-to-severe psoriasis but can cause toxicity in some patients, leading to treatment suspension.
  • - A study involving 101 patients identified specific genetic variations (SNPs) linked to an increased risk of developing adverse effects from MTX, including the rs2238476-AG and rs376154-GT genotypes.
  • - The findings suggest these SNPs could serve as biomarkers to predict MTX toxicity in psoriasis patients, allowing for better management of treatment plans.
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We report the case of a neonate presenting with the clinical features of blueberry muffin syndrome caused by ganglioneuroblastoma, a rare variant of neuroblastoma. This syndrome may be the only visible manifestation of a neonatal tumor and highlights the importance of early recognition and initiation of therapy to reduce mortality.

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Epidermal barrier dysfunction plays an important role in atopic dermatitis (AD). The difficulty of objectively assessing AD severity and the introduction of new biologicals into clinical practice highlight the need to find parameters to monitor clinical outcomes. The aim of this study is to evaluate the impact of dupilumab on skin barrier function and compare it with other treatments in patients with AD.

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Background: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae.

Objective: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH.

Methods: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry.

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Skin is damaged in atopic dermatitis (AD) patients. Age is also believed to have a negative effect on epidermal barrier function. The aim of this study was to investigate skin barrier function changes with age in AD patients.

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Genetic variants that result in truncation in () are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and heart muscle is well defined, however, this is not the case in heterozygous carriers. The aim of this work is to describe cutaneous findings and analyze the molecular and ultrastructural cutaneous changes in this group of patients.

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Oral minoxidil is an approved treatment for high blood pressure which is also used as an off-label drug for alopecia. Knowledge about the effects of systemic minoxidil in the paediatric population is limited. A retrospective case series study of paediatric patients with history of systemic minoxidil intake due to contaminated sets of omeprazole was performed to describe side effects of high dose oral minoxidil intake in children.

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Background: Cutaneous reactions after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines are poorly characterized.

Objective: To describe and classify cutaneous reactions after SARS-CoV-2 vaccination.

Methods: A nationwide Spanish cross-sectional study was conducted.

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Background And Objectives: It is necessary to expand the knowledge in the use of apremilast in clinical practice. The APPRECIATE study (NCT02740218) aims to describe the characteristics of patients with psoriasis treated with apremilast, to evaluate their perspectives and those of dermatologists, as well as the outcomes obtained in clinical practice in Spain.

Methods: Observational, retrospective, cross-sectional, multicenter study of patients with chronic plaque psoriasis who could be contacted 6 (±1) months after apremilast initiation.

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Meyerson phenomenon, also known as "halo-eczema," has been widely described over melanocytic and non-melanocytic lesions. However, its appearance over vascular anomalies is rarely observed and could lead to diagnostic errors. A case study of five patients aged between four months and two years is reported.

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Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases.

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Introduction: Atopic dermatitis is a highly prevalent chronic disorder. Therapeutic education in diseases of this kind is essential in order to improve patient management and prognosis. A study was conducted regarding parent satisfaction following educational sessions in an Atopy School organized by a multidisciplinary team.

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Sexually transmitted infections (STIs) are one of the most frequent and universal Public Health problems. Health professionals should be aware of the possibility of STIs due to their high morbidity and the presence of sequelae. The delay in the diagnosis is one of the factors that justifies the difficulty to infections control.

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The aim of this study was to determine the prevalence and type of cutaneous manifestations which occur in patients with granulomatosis with polyangiitis and to explore the potential association between cutaneous and systemic involvement in these patients. A retrospective case series study was designed, including all granulomatosis with polyangiitis cases diagnosed between 2010 and 2018 at the Hospital Universitario Virgen de las Nieves. Thirty-nine patients with granulomatosis with polyangiitis were identified, of which 53.

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The aim of this study was to explore Leishmania infantum epidemiology through a One Health approach that promotes a better estimation of leishmaniasis burden and a deeper understanding of the spatial distribution of the key actors of the parasite life cycle (vectors, reservoirs and humans). We conducted a 14-year mixed retrospective and prospective study of leishmaniasis cases in an endemic area in southern Spain (Granada province), to estimate the human incidence and its association with the vector presence, cryptic leishmaniasis rates and canine leishmaniasis prevalence. We found an annual linear increase in the incidence that cannot be fully explained by active case surveillance and the improvement of PCR diagnostic techniques.

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The presence of eczema and elevated IgE in pediatric patients does not always indicate atopic dermatitis. Rare genodermatoses may share this clinical presentation and should be considered in the differential diagnosis for patients with congenital immunodeficiency and severe refractory dermatitis. We describe a case of severe dermatitis, allergies, and metabolic wasting syndrome, due to a novel mutation in DSG1 gene, an additional example of this uncommon genetic disorder of desmosome function.

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Background: Alopecia areata (AA) is a skin disease that produces hair loss in patches of skin. The underlying mechanism of AA is a loss of immune privilege of hair follicles, which are then attacked by natural killer (NK) cells. A previous genome-wide association study linked single nucleotide polymorphisms of the protein MHC class I chain-related A (MICA) to this disease.

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Purpose Of Review: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification.

Recent Findings: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months.

Summary: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth.

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Article Synopsis
  • Primary immunodeficiencies (PIDs) are a diverse group of over 350 genetic disorders that affect the immune system, with advancements in next-generation sequencing (NGS) aiding in the diagnosis.
  • In a study involving 61 patients, clinical exome sequencing (CES) led to a genetic diagnosis in 31% of cases, identifying mutations in both specific PID-related genes and other unexpected genes.
  • The findings highlight the complexity of PIDs, with some patients having incomplete or uncertain genetic information, and show that further testing can improve diagnosis rates to 42%.
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