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BACKGROUND Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single nucleotide polymorphisms (SNP) in VDR and CYP24A1 and have been previously associated with AD. OBJECTIVE We sought to characterize the associations between VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD. METHODS A total of 246 participants (143 AD patients and 103 healthy controls) were enrolled in this study. Genotyping for polymorphisms in VDR (rs2239185, rs1544410, rs7975232, rs2238136, rs3782905, rs2239179, rs1540339, rs2107301, rs2239182, rs731236) and CYP24A1 (rs2248359, rs2296241) was performed by allele-specific PCR using integrated fluidic circuit technology. Serum levels of calcium, phosphorus, and vitamin D were measured, and the biochemical lipid profile determined. RESULTS Among VDR SNP, 2239182 exerted a protective effect against the development of AD, while rs2238136 was identified as a risk factor for AD. The GCC haplotype (rs2239185-G, rs1540339-C, rs2238136-C) appeared to protect against the development of AD. rs2239182-CC was associated with higher 25(OH)D concentrations, while rs2238136-TT, rs2239185-GA, and rs2248359-TT were present in a large proportion of patients with serum vitamin D deficiency. rs2239185-AA, rs2239182-CC, and rs1540339-CC were associated with higher serum total cholesterol, rs2239182-TT with lower LDL-cholesterol, and rs2239182-TC with lower HDL-cholesterol. Both CYP24A1 SNPs (rs2296241-AA and rs2248359-TT) were associated with higher HDL-cholesterol levels. CONCLUSIONS The VDR SNP rs2238136 is as risk factor for AD and other SNPs in VDR and CYP24A1 may lead to alterations in biochemical parameters that influence the risk of AD. Our findings highlight the complex genetic basis to AD, and indicate that interrelationships between different genetic factors can lead to alterations in vitamin D metabolism or lipid profiles, which in turn may influence the development of AD. CLINICALTRIAL

Streptococcus dysgalactiae subspecies equisimilis infection is an emerging pathogen. Cutaneous and systemic manifestations resemble those of other pyogenic streptococci. However, the rapid group A antigen detection test used to diagnose Streptococcus pyogenes infection is usually negative, making the diagnosis difficult. If clinical suspicion of streptococcal infection is high, a tonsillar culture should be performed to confirm the diagnosis.

These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.What's already known about this topic?Various symptomatic treatment options exist for congenital ichthyoses, but there are no European guidelines.What does this study add?These European guidelines for the management of congenital ichthyosis may help to improve outcomes and quality of life for patients.Linked Comment: Akiyama. Br J Dermatol 2019; 180:449-450. Plain language summary available online

Rosacea is a chronic inflammatory condition that affects the skin and the eyes. The pathogenesis of rosacea is complex and includes the interaction between genetic and environmental factors, dysregulation of the innate immune system, neurovascular modifications and the interaction with skin commensals. Clinical manifestations in children include the telangiectatic form, papulopustular rosacea, ocular rosacea, periorificial dermatitis, granulomatous rosacea and idiopathic facial aseptic granuloma. Management is aimed at identifying and avoiding triggers. Topical therapy is used for mild cases with topical antibiotics and anti-inflammatory agents. Oral agents are indicated, in combination with topical therapy, for moderate to severe cases. Prolonged therapy may be required.

Sorafenib is a multikinase inhibitor increasingly used for the treatment of several solid tumors. Different types of keratotic lesions, such as squamous cell carcinoma, actinic keratosis, or infundibular cyst, have been reported in association with this therapy. We present a 15-year-old male diagnosed with desmoid fibromatosis who developed multiple penile and scrotal infundibular cysts while receiving treatment with sorafenib.

Pigmented purpuric dermatoses (PPDs) are a group of idiopathic, chronic, and self-resolving conditions easily recognizable in adults but extremely uncommon in infants. We present the youngest patient with PPD reported to date.

Idiopathic facial aseptic granuloma is an inflammatory nodule commonly located on the cheeks and eyelids in young children. Despite its prolonged course, it tends toward spontaneous resolution, so invasive diagnostic procedures should be avoided. Cutaneous ultrasound is a noninvasive modality that has been found to improve the diagnostic accuracy of nodular skin lesions. We report five children with idiopathic facial aseptic granuloma in whom high-resolution ultrasound examination provided distinctive findings.

Resumen: Introducción: Los hemangiomas infantiles son tumores benignos producidos por la proliferación de células endoteliales de vasos sanguíneos, con una alta incidencia en niños menores de un año (4-10%) y se estima que un 12% de ellos requiere tratamiento. Dicho tratamiento debe realizarse según las guías de práctica clínica y la experiencia de los especialistas, las características de los pacientes y las preferencias de sus progenitores. Métodos: El proceso de consenso se realizó utilizando evidencias científicas sobre el diagnóstico y tratamiento de los hemangiomas infantiles, extraídas mediante una revisión sistemática de la literatura, junto con el juicio experto de los especialistas. Las recomendaciones formuladas fueron validadas por los especialistas, aportando su grado de acuerdo. Resultados: El presente documento recoge recomendaciones sobre la clasificación, las asociaciones, las complicaciones, el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil. Además, se incluyen algoritmos de actuación y se aborda el manejo multidisciplinario y criterios de derivación entre los distintos especialistas que participan en el manejo clínico de este tipo de pacientes. Conclusiones: Las recomendaciones y los algoritmos diagnóstico y terapéutico de los hemangiomas infantiles recogidos en este documento son una herramienta útil en el manejo adecuado de estos pacientes. Abstract: Introduction: Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. Methods: The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. Results: This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. Conclusions: The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients.

Papillary hemangioma (PH) is a rare, benign, vascular tumor that usually appears on the scalp and face and is reported most frequently in adults. We present a pediatric case of PH and provide sonographic features that may assist in establishing the diagnosis.

Disease-associated malnutrition (DAM) is a health problem involving all sanitary levels, especially hospitalised elderly patients. Different MNA (Mini Nutritional Assessment)-based forms have been validated in different settings, but it remains unclear if they are appropriate to evaluate the nutritional status of geriatric hospitalised patients with diabetes.The aim of this work was to analyse the accuracy of several MNA reduced forms to detect malnutrition in hospitalised elderly diabetic patients.A multicentre observational study was carried out in diabetic patients, who were over the age of 65, from 35 Spanish hospitals. Principal component analysis (PCA) selected the minimal components to elaborate the newly-proposed reduced new version of the MNA (r-MNA). Cohen's Kappa index (KI), with its 95% confidence interval (CI), was used to measure the agreement between the different reduced forms (r-MNA, MNA-SF-BMI, MNA-SF-CC, m-MNA) with the original MNA.Five hundred and ninety-one elderly diabetic patients were included in the study. ROC analysis determined the following cut-off points for the newly proposed r MNA: 0-10 "malnourished", 10-12 "at risk" and12-15 "well-nourished". The upper cut-off point demonstrated a sensitivity of 87.7%, a specificity of 78.3% and an area under the curve of 0.93. The lower cut-off point showed a sensitivity of 95.9%, a specificity of 78.3% and an area under the curve of 0.95. The best agreement with the original MNA was observed for the MNA-SF-BMI (Κ index 80.7; 95% CI: 77.4-84) and the worst for the r-MNA (Κ index 72; 95% CI: 68.2-75.4).This study found that MNA-SF-BMI is the most accurate screening tool for determining the nutritional status of hospitalised diabetic elderly patients. This is an easy-to-use, fast screening tool with a low risk of misclassification.

A 2-year-old girl presented with a 2-month history of an erythematous, indurated plaque with well-defined borders on the third toe of the right foot. Bedside high-resolution ultrasonography demonstrated a thickened epidermis overlying a hyperechoic focus within the dermis. Her clinical and sonographic presentation was in keeping with a foreign body causing hair-thread tourniquet syndrome. The foreign body was surgically extirpated without neurovascular sequelae. Ultrasonography expedited accurate diagnosis and is a promising adjunct to clinical evaluation for radiolucent foreign bodies.

Introduction: Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4–10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. Methods: The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. Results: This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. Conclusions: The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Resumen: Introducción: Los hemangiomas infantiles son tumores benignos producidos por la proliferación de células endoteliales de vasos sanguíneos, con una alta incidencia en niños menores de un año (4–10%) y se estima que un 12% de ellos requiere tratamiento. Dicho tratamiento debe realizarse según las guías de práctica clínica y la experiencia de los especialistas, las características de los pacientes y las preferencias de sus progenitores. Métodos: El proceso de consenso se realizó utilizando evidencias científicas sobre el diagnóstico y tratamiento de los hemangiomas infantiles, extraídas mediante una revisión sistemática de la literatura, junto con el juicio experto de los especialistas. Las recomendaciones formuladas fueron validadas por los especialistas, aportando su grado de acuerdo. Resultados: El presente documento recoge recomendaciones sobre la clasificación, las asociaciones, las complicaciones, el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil. Además, se incluyen algoritmos de actuación y se aborda el manejo multidisciplinario y criterios de derivación entre los distintos especialistas que participan en el manejo clínico de este tipo de pacientes. Conclusiones: Las recomendaciones y los algoritmos diagnóstico y terapéutico de los hemangiomas infantiles recogidos en este documentoson una herramienta útil en el manejo adecuado de estos pacientes.

In recent years, the genes responsible for many hereditary skin diseases have been discovered. These genes encode different proteins that participate in the terminal differentiation of the epidermis, so their alteration or absence causes a keratinization disorder and/or an increase in skin fragility. Thanks to genetic analyses, we have been able to understand the physiopathology of numerous genodermatoses and we have become closer to diagnosing many others. In the not-too-distant future, biomolecular techniques may foreseeably help us prevent and treat these processes, which include skin diseases as serious as epidermolysis bullosa or epidermolytic hyperkeratosis. In this article, we will study the most recent biomolecular findings referring to keratinization and epidermal disorders, mentioning the altered genes and/ or the defective proteins that cause them.

Cutaneous mucinoses, also called lichen myxoedematosus, are a group of diseases characterized by mucin deposit on the skin. They may be associated to systemic diseases (scleromyxedema) or be primary ones (papular mucinosis, localized lichen myxoedematous), although they share common findings (intermediate or atypical forms) in some cases. Acral persistent papular mucinosis (APPM) is a type of papular mucinosis that is located exclusively on the back of the hands and in the distal zone of the forearms and is not associated to any systemic disease. We present the case of a 52-year-old healthy woman who had skin lesions on the back of her hands and whose histological study confirmed an APPM.

Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation. Methods Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the COL7A1 gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin. Results Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation. Conclusion Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation ( CCGCTCAAA_6527insC ), thus suggesting the presence of a common ancestor.

ResumenAntecedentesEl cáncer cutáneo es la neoplasia maligna más frecuente en humanos. Su tratamiento puede ser efectuado con diversas técnicas y por diferentes especialistas, y la escisión quirúrgica es el método terapéutico con menor tasa de recidivas.ObjetivosEvaluar el coste por proceso del tratamiento quirúrgico del cáncer cutáneo no melanoma (CCNM) cuando es realizado por un servicio de dermatología.Material y métodoDefinición del proceso asistencial como conjunto de actividades clínicas que conducen al tratamiento quirúrgico del CCNM por parte de un especialista en dermatología, y cálculo del coste por proceso empleando los datos económicos facilitados por la institución sanitaria pública en que se ha realizado el análisis.ResultadosEl gasto por proceso varió entre 273,71 y 1.129,84 euros, dependiendo del procedimiento quirúrgico y de los recursos sanitarios empleados.ConclusionesEl cáncer cutáneo es una de las enfermedades dermatológicas cuyo aspecto clínico suele ser inequívoco para los dermatólogos, por lo que muchas veces ni siquiera se precisa una confirmación histológica para diagnosticarlo y decidir la pauta terapéutica correspondiente. Este hecho hace que los dermatólogos quirúrgicos sean muy eficientes, ya que el proceso se realiza con un mínimo de episodios asistenciales y solamente en los pacientes adecuados. El coste del tratamiento varía sustancialmente en función de la complejidad de la intervención y el escenario quirúrgico donde se realiza.AbstractBackgroundSkin cancer is the most common form of malignancy in humans. It can be treated with various techniques and by different specialists. The procedure with the lowest failure rates is surgical excision.ObjectivesTo calculate the cost per episode of care in the surgical treatment of non-melanoma skin cancer (NMSC) when performed by dermatologists.Material and methodAn episode of NMSC surgical care was defined as the series of healthcare services required for a dermatologist to treat skin cancer. The cost per episode was calculated using the economic data made available by the public health institution in which the analysis was performed.ResultsThe cost per episode of care varied between 273.71 and 1,129.84 euro, depending on the surgical procedure performed and the related health services required.ConclusionsSkin cancer is one of the cutaneous diseases with clinical manifestations that are easily recognized by dermatologists, who frequently do not even need histological confirmation to make the diagnosis and choose the therapeutic approach. Consequently, dermatological surgeons are highly efficient, since the episode of care is performed with a minimum of healthcare services and only in appropriately selected individuals. The cost of treatment varies substantially, depending on the complexity of the surgical procedures and the site where they are performed.