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The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family, FGFR2 is a key regulator in many biological processes, e.g., cell proliferation, tumorigenesis, metastasis, and angiogenesis. Heterozygous activating non-mosaic germline variants in FGFR2 have been linked to numerous autosomal dominantly inherited disorders including several craniosynostoses and skeletal dysplasia syndromes. We report on a girl with cutaneous nevi, ocular malformations, macrocephaly, mild developmental delay, and the initial clinical diagnosis of Schimmelpenning-Feuerstein-Mims syndrome, a very rare mosaic neurocutaneous disorder caused by postzygotic missense variants in HRAS, KRAS, and NRAS. Exome sequencing of blood and affected skin tissue identified the mosaic variant c.1647=/T > G p.(Asn549=/Lys) in FGFR2, upstream of the RAS signaling pathway. The variant is located in the tyrosine kinase domain of FGFR2 in a region that regulates the activity of the receptor and structural mapping and functional characterization revealed that it results in constitutive receptor activation. Overall, our findings indicate FGFR2-associated neurocutaneous syndrome as the accurate clinical-molecular diagnosis for the reported individual, and thereby expand the complex genotypic and phenotypic spectrum of FGFR-associated disorders. We conclude that molecular analysis of FGFR2 should be considered in the genetic workup of individuals with the clinical suspicion of a mosaic neurocutaneous condition, as the knowledge of the molecular cause might have relevant implications for genetic counseling, prognosis, tumor surveillance and potential treatment options.
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Craniossinostoses , Síndromes Neurocutâneas , Nevo Sebáceo de Jadassohn , Feminino , Humanos , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Genótipo , Mutação de Sentido Incorreto , Nevo Sebáceo de Jadassohn/genética , Nevo Sebáceo de Jadassohn/patologia , Craniossinostoses/genética , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genéticaRESUMO
DEBRA International is undertaking a long-term initiative to develop clinical practice guidelines (CPGs) for epidermolysis bullosa (EB), to -improve the clinical care of people living with EB. Current neonatal care is based on evidence, clinical expertise and trial and error, with collaboration between the EB specialist team, parent or carer and patient, and is dependent on the neonate's individual presentation and type of EB. Early intervention based on research and clinical practice is needed to establish a foundation of knowledge to guide international practitioners to create and improve standards of care and to be able to work effectively with those newly diagnosed with EB. This CPG was created by an international panel with expertise working with persons with EB. The CPG focuses on neonatal care using a systematic review methodology covering four key areas: (i) diagnosis and parental psychosocial support; (ii) hospital management: medical monitoring, wound care and pain; (iii) feeding and nutrition; and (iv) discharge planning and EB education. These four areas highlight the importance of a multidisciplinary team approach, to provide a patient-specific holistic care model that incorporates the needs and wishes of the parents and carers. The Hospital Implementation Tool included promotes transfer of theory to clinical practice.
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Epidermólise Bolhosa , Humanos , Recém-Nascido , Epidermólise Bolhosa/terapia , Epidermólise Bolhosa/diagnóstico , Pais , Alta do Paciente/normas , Equipe de Assistência ao Paciente/organização & administraçãoRESUMO
BACKGROUND: Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal-recessive EI, superficial EI and epidermal nevus. Case reports highlight the diversity of clinical manifestations, but only limited information exists regarding the quality of life and burden of disease. OBJECTIVES: The objective of this study was to assess the clinical spectrum, genotype-phenotype correlations and burden of disease in patients with epidermolytic ichthyosis in Germany. METHODS: We conducted an observational study involving 48 patients diagnosed with EI. Evaluations included the severity of skin involvement using the Investigator's Global Assessment (IGA), the modified Ichthyosis Area Severity Index (mIASI) and complications. The burden of disease was evaluated using the Dermatology Life Quality Index (DLQI) or the Children's Dermatology Life Quality Index (cDLQI). RESULTS: Based on clinical features, mIASI and IGA, EI can be categorized into localized, intermediate and severe forms. Patients with keratin 1 mutations tended to have severe EI, while the three forms were evenly distributed in those with keratin 10 mutations. The study highlights that around half of the patients with EI experienced itch and severe pain. Quality of life was affected, with daily life restrictions of 78% due to care and therapies. Reimbursement for moisturizing ointments by health insurance was insufficient for one-quarter of cases. CONCLUSIONS: The results emphasize the need for targeted interventions and comprehensive care strategies to enhance the quality of life for affected individuals.
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This S3 guideline was created based on the European S3 guideline, with special consideration of the medical conditions in the German-speaking region and incorporating additions from the previous German-language version. The interdisciplinary guideline commission consisted of representatives from the German Dermatological Society, the Professional Association of German Dermatologists, the Austrian Society of Dermatology and Venereology, the Swiss Society of Dermatology and Venereology, the German Society for Allergology and Clinical Immunology, the German Society for Pediatric and Adolescent Medicine, the Professional Association of Pediatricians and Adolescent Medicine, the Society for Pediatric Allergology and Environmental Medicine, the German Society for Pediatric Rehabilitation and Prevention, the German Society for Psychosomatic Medicine and Medical Psychotherapy, the German Network for Health Services Research, the German Eczema Association and the German Allergy and Asthma Association. This first part of the guideline focuses on the definition and diagnostic aspects of atopic dermatitis (AD), addressing topical therapy as well as non-pharmacological treatment approaches such as UV therapy, psychoeducational therapy, dietary interventions for AD, allergen immunotherapy for AD, and complementary medicine. This part of the guideline also covers specific aspects of AD in children and adolescents, during pregnancy and lactation, and in the context of family planning. Additionally, it addresses occupational aspects of AD and highlights the perspective of the patients. The second part of the guideline, published separately, addresses the systemic therapy of AD.
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Asma , Dermatite Atópica , Adolescente , Feminino , Gravidez , Humanos , Criança , Dermatite Atópica/terapia , Dermatite Atópica/tratamento farmacológicoRESUMO
The present S3 guideline was created based on the European English-language S3 guideline, with special consideration given to the medical conditions in the German-speaking region, and with additions from the previous German-language version, in accordance with the criteria of the AWMF. This second part of the guideline addresses the systemic therapy of atopic dermatitis (AD). It covers topics such as the indication for systemic therapy in children, adolescents, and adult patients with AD. Furthermore, it addresses all medications approved for AD, such as the biologics dupilumab and tralokinumab, the Janus kinase inhibitors abrocitinib, baricitinib, and upadacitinib, as well as conventional immunosuppressive therapies with systemic glucocorticosteroids and ciclosporin. Additionally, it discusses systemic off-label therapies. The first part of the guideline, published separately, includes the definition and diagnostic aspects of AD, describes topical therapy, non-drug therapy approaches, and addresses aspects related to special patient groups.
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Produtos Biológicos , Dermatite Atópica , Adolescente , Adulto , Criança , Humanos , Dermatite Atópica/diagnóstico , Dermatite Atópica/tratamento farmacológico , Administração Cutânea , Ciclosporina , Terapia de Imunossupressão , Resultado do TratamentoRESUMO
The lifetime prevalence of urticaria, a severe allergic disease, is almost 20%. It not only limits the quality of life of those affected, but also their general performance at work and in their daily activities. This publication is the first section of the Urticaria Guideline. It covers the classification and diagnosis of urticaria, taking into account the major advances in research into its causes, triggering factors and pathomechanisms. It also addresses strategies for the efficient diagnosis of the different subtypes of urticaria. This is crucial for individual, patient-oriented treatment, which is covered in the second part of the guideline, published separately. This German-language guideline was developed according to the criteria of the AWMF on the basis of the international English-language S3 guideline with special consideration of health system characteristics in the German-speaking countries. This first part of the guideline describes the classification of urticaria, distinguishing spontaneously occurring wheals (hives) and angioedema from forms of urticaria with inducible symptoms. Urticaria is defined as sudden onset of wheals, angioedema, or both, but is to be distinguished from conditions in which wheals occur as a short-term symptom, such as anaphylaxis. The diagnosis is based on (a limited number of) laboratory tests, but especially on medical history. In addition, validated instruments are available to measure the severity, activity and course of the disease.
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Anafilaxia , Angioedema , Urticária , Humanos , Qualidade de Vida , Urticária/diagnóstico , Urticária/terapia , IdiomaRESUMO
This publication is the second part of the German-language S3 guideline on urticaria. It covers the management of urticaria and should be used together with Part 1 of the guideline on classification and diagnosis. This publication was prepared according to the criteria of the AWMF on the basis of the international English-language S3 guideline with special consideration of health system conditions in German-speaking countries. Chronic urticaria has a high impact on the quality of life and daily activities of patients. Therefore, if causal factors cannot be eliminated, effective symptomatic treatment is necessary. The recommended first-line treatment is to administer new generation, non-sedating H1 antihistamines. If the standard dose is not sufficiently effective, the dose should be increased up to fourfold. For patients who do not respond to this treatment, the second-line treatment in addition to antihistamines in the treatment algorithm is omalizumab and, if this treatment fails, ciclosporin. Other low-evidence therapeutic agents should only be used if all treatments in the treatment algorithm agreed upon by the guideline group fail. Both the benefit-risk profile and cost should be considered. Corticosteroids are not recommended for long-term treatment due to their inevitable severe side effects.
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Urticária Crônica , Antagonistas não Sedativos dos Receptores H1 da Histamina , Urticária , Humanos , Qualidade de Vida , Doença Crônica , Urticária/tratamento farmacológico , Urticária Crônica/diagnóstico , Antagonistas não Sedativos dos Receptores H1 da Histamina/uso terapêuticoRESUMO
Onychomycosis is a fungal infection of the fingernails and toenails. In Europe, tinea unguium is mainly caused by dermatophytes. The diagnostic workup comprises microscopic examination, culture and/or molecular testing (nail scrapings). Local treatment with antifungal nail polish is recommended for mild or moderate nail infections. In case of moderate to severe onychomycosis, oral treatment is recommended (in the absence of contraindications). Treatment should consist of topical and systemic agents. The aim of this update of the German S1 guideline is to simplify the selection and implementation of appropriate diagnostics and treatment. The guideline was based on current international guidelines and the results of a literature review conducted by the experts of the guideline committee. This multidisciplinary committee consisted of representatives from the German Society of Dermatology (DDG), the German-Speaking Mycological Society (DMykG), the Association of German Dermatologists (BVDD), the German Society for Hygiene and Microbiology (DGHM), the German Society of Pediatric and Adolescent Medicine (DGKJ), the Working Group for Pediatric Dermatology (APD) and the German Society for Pediatric Infectious Diseases (DGPI). The Division of Evidence-based Medicine (dEBM) provided methodological assistance. The guideline was approved by the participating medical societies following a comprehensive internal and external review.
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Onicomicose , Adolescente , Humanos , Criança , Onicomicose/diagnóstico , Onicomicose/tratamento farmacológico , Antifúngicos/uso terapêutico , Unhas , Administração Oral , Europa (Continente)RESUMO
BACKGROUND: Peanut and tree nut allergies are common in childhood and often severe in nature. The clinical picture shows a wide variety of symptoms. OBJECTIVE: To analyze the distribution of clinical symptoms and severity during oral food challenges (OFC) in children. METHODS: Analysis of 1.013 prospectively recorded, positive OFCs with peanut (n = 607), hazelnut (n = 266), walnut (n = 97), and cashew (n = 43). Symptoms were categorized as immediate-type skin, gastrointestinal, upper and lower respiratory, cardiovascular symptoms, and eczema exacerbation. Symptom severity and treatment were recorded. RESULTS: Skin symptoms presented in 78%, followed by gastrointestinal (47%), upper (42%), and lower respiratory symptoms (32%). Cardiovascular symptoms presented in 6%. In three-quarter of the reactions, more than one organ was involved. Importantly, severe reactions occurred at every dose level. Peanut- and cashew-allergic patients had a higher relative risk of gastrointestinal symptoms compared with hazelnut- and walnut-allergic patients. Patients without vomiting had a 1.7 times higher risk developing immediate-type skin and/or lower respiratory symptoms. Three-quarter of the patients ever had eczema but worsening presented in only 10.5% of the OFCs. In patients with multiple food allergies, organs involved, eliciting dose and severity differed between allergens. CONCLUSION: Although comparisons between allergen groups with different clinical history, severity, comorbidities and laboratory data are difficult and might contain bias, our data confirm the high allergenic potential of peanut and tree nuts. The rare occurrence of eczema worsening emphasizes that avoidance diets of peanuts and tree nuts to cure eczema seem to be unnecessary and may hamper tolerance maintenance.
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Eczema , Juglans , Hipersensibilidade a Noz , Hipersensibilidade a Amendoim , Alérgenos , Arachis , Criança , Humanos , Hipersensibilidade a Noz/diagnóstico , Hipersensibilidade a Noz/epidemiologia , Nozes , Hipersensibilidade a Amendoim/diagnóstico , Hipersensibilidade a Amendoim/epidemiologiaRESUMO
BACKGROUND: Nasal obstruction is a frequent symptom in both adults and children and it is a common reason to see an otorhinolaryngologist. Endoscopy of the nasal cavity and the epipharyngeal space along with anterior rhinomanometry is regarded the gold standard since many years to estimate the severity of nasal obstruction in the particular patient. Endoscopy shows anatomical reasons for an obstruction, whereas the nasal flow volume and nasal resistance can be determined using anterior rhinomanometry. Currently, there are only few data available for rhinomanometry results in children. The purpose of the present study was to evaluate the application of this technique in the pediatric population for objective evaluation of nasal flow. Whether it achieves reproducible results and which clinical parameters have some influence on the results were studied. PATIENTS AND METHODS: 427 children (average age of 8.5 years, range 7 months through 17 years) who were admitted to evaluate nasal patency or for allergy testing were examined. After clinical examination and endoscopy of the nasal cavity and epipharyngeal space, anterior rhinomanometry was performed before and after application of decongestant nose drops separately for each nose side in 334 children. The nasal flow with a pressure of 150 Pasc was measured and served for statistical evaluation. Flow values were correlated to clinical and endoscopic parameters along with results of allergy tests (prick tests). RESULTS: Reproducible rhinomanometric measurements were possible in children age 3 years and older. However, the standard deviation and variation of measurements were significant in this cohort of patients. Statistically highest significant correlations were found between flow measurements and body height along with the age of the children (p < 0.01) and status following adenoidectomy (p < 0.05). No statistically significant correlations were found between rhinomanometry and results of prick tests. CONCLUSIONS: The study demonstrates that rhinomanometry can be applied in the pediatric population for objective evaluation of nasal obstruction and for determining the effects of decongestant nose drops. The highest correlation was found between nasal flow and children's body height, children's age and status following adenoidectomy. The correlation between nasal flow and clinically/endoscopically determined degree of nasal obstruction was lower. However, definition of normal flow values for particular age groups is challenging since the results showed high variation and standard deviation. Yet with regard to individual patient, the technique achieves reliable results in nasal provocation tests, which are widely used for allergy testing in children. When performed in children it should always be considered that there are age-specific requirements for the examination and interpretation of results in this patient cohort.
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Hipersensibilidade , Obstrução Nasal , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Descongestionantes Nasais , Obstrução Nasal/diagnóstico , Obstrução Nasal/etiologia , Nariz , Rinomanometria/métodosRESUMO
BACKGROUND: Peanut allergy has a rising prevalence in high-income countries, affecting 0.5%-1.4% of children. This study aimed to better understand peanut anaphylaxis in comparison to anaphylaxis to other food triggers in European children and adolescents. METHODS: Data was sourced from the European Anaphylaxis Registry via an online questionnaire, after in-depth review of food-induced anaphylaxis cases in a tertiary paediatric allergy centre. RESULTS: 3514 cases of food anaphylaxis were reported between July 2007 - March 2018, 56% in patients younger than 18 years. Peanut anaphylaxis was recorded in 459 children and adolescents (85% of all peanut anaphylaxis cases). Previous reactions (42% vs. 38%; p = .001), asthma comorbidity (47% vs. 35%; p < .001), relevant cofactors (29% vs. 22%; p = .004) and biphasic reactions (10% vs. 4%; p = .001) were more commonly reported in peanut anaphylaxis. Most cases were labelled as severe anaphylaxis (Ring&Messmer grade III 65% vs. 56% and grade IV 1.1% vs. 0.9%; p = .001). Self-administration of intramuscular adrenaline was low (17% vs. 15%), professional adrenaline administration was higher in non-peanut food anaphylaxis (34% vs. 26%; p = .003). Hospitalization was higher for peanut anaphylaxis (67% vs. 54%; p = .004). CONCLUSIONS: The European Anaphylaxis Registry data confirmed peanut as one of the major causes of severe, potentially life-threatening allergic reactions in European children, with some characteristic features e.g., presence of asthma comorbidity and increased rate of biphasic reactions. Usage of intramuscular adrenaline as first-line treatment is low and needs to be improved. The Registry, designed as the largest database on anaphylaxis, allows continuous assessment of this condition.
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Anafilaxia , Hipersensibilidade a Amendoim , Adolescente , Anafilaxia/diagnóstico , Anafilaxia/epidemiologia , Anafilaxia/etiologia , Arachis , Criança , Epinefrina , Humanos , Hipersensibilidade a Amendoim/diagnóstico , Hipersensibilidade a Amendoim/epidemiologia , Sistema de RegistrosRESUMO
This guideline is an update from August 2020 the S2k-guideline "Atopic dermatitis" published in 2015. The reason for updating this chapter of the guideline were the current developments in the field of systemic therapy of atopic dermatitis. The agreed recommendations for systemic treatment in atopic dermatitis of the present guideline are based on current scientific data. Due to the approval of dupilumab for the treatment of moderate to severe atopic dermatitis, which cannot be treated sufficiently with topical drugs alone, this part of the guideline has now been adapted and newly consented. The indication for systemic therapy and the therapeutic response to topical and systemic treatment should be recorded and documented in a suitable form in clinic and practice. A standardized documentation of the indication for system therapy in atopic dermatitis can be recommended and is also part of the updated chapter of this guideline.
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Dermatite Atópica , Administração Cutânea , Anticorpos Monoclonais/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Eczema , HumanosRESUMO
BACKGROUND: The spectrum of skin disorders in children with type 1 diabetes (T1D) and their impact on affected persons are still incompletely understood. This study assessed the prevalence of skin diseases, cutaneous complications associated with T1D treatment and skin-related quality of life (QoL) in young T1D persons. METHODS: Participation in this interdisciplinary, single-center, cross-sectional, observational study was offered to all persons with T1D ≤20 years. Participants were characterized by a detailed medical history, routine laboratory workup, thorough clinical examinations and an established QoL questionnaire. RESULTS: Three hundred and sixty-nine persons were recruited (55% male; age 12.3 ± 4.4 years; HbA1c 7.4 ± 1.0%; mean ± SD). Continuous subcutaneous insulin infusion (CSII) was used by 72.4%, multiple daily injections (MDI) by 27.6% and continuous glucose monitoring (CGM) by 76%. Skin affections occurred in 91.8% of the study population. Device-associated lesions were most prevalent, including lipohypertrophy in 42.2% of MDI and 46.8% of CGM users and contact eczema associated with CSII or CGM in 14.2% and 18.3%, respectively. Diabetes-associated skin disorders and skin infections were rare or absent. Skin-related QoL impairment was low or absent in 95% of patients. CONCLUSIONS: Skin diseases have a high prevalence and a broad spectrum in young persons with T1D. Eczematous reactions to CSII and CGM devices represent the most frequent skin complications. This highlights the need for regular skin checkups as an integral part of pediatric diabetes consultations and interdisciplinary cooperation for classification and treatment options.
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Automonitorização da Glicemia/efeitos adversos , Diabetes Mellitus Tipo 1/complicações , Sistemas de Infusão de Insulina/efeitos adversos , Qualidade de Vida , Dermatopatias/etiologia , Adolescente , Glicemia/metabolismo , Automonitorização da Glicemia/instrumentação , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/sangue , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Lactente , Masculino , Dermatopatias/epidemiologia , Adulto JovemRESUMO
AIM: To investigate whether zinc-free insulin is an effective treatment option for lipoatrophy. METHODS: Controlled, randomized, open-label parallel study in young people with type 1 diabetes, pump treatment and lipoatrophy at injection sites. Participants underwent dermatological examination and evaluation of affected areas using ultrasound and magnetic resonance imaging (MRI). After randomization, half of themswitched to insulin glulisine (intervention group) for 6 months. The control group continued their treatment with zinc-containing insulin and switched to insulin glulisine 6 months later. Both groups were followed-up until month 12. Primary endpoint was the increase of the relative thickness of the subcutaneous fat layer of the most atrophic site at 6 months as documented by MRI. RESULTS: Fourteen participants were included into the study. While relative thickness of subcutaneous fat tissue was comparable between intervention (-60% [-98.8 - -17.6], n = 7) and control group (-50% [-72.7 - -1.0], P = .511; median (range), n = 7)at baseline, it improved in the intervention (-14.3% [-85.7-83.3] vs -31.3% (-66.7-0), P = .031), but not in the control group (P = .125) after 6 months. At 12 months, relative fat thickness (P = .003), number (P = .015) and size of most atrophic sites (P = .001) were improved in the intervention group. Number (P = .018) and size of most atrophic sites (P = .008) were also reduced in the control group between 6 and 12 months. CONCLUSIONS: Although the present pilot study is based on a small sample, the data give first hint that the use of the zinc-free insulin glulisine may be beneficial in people with diabetes, pump and lipoatrophy.
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Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/administração & dosagem , Sistemas de Infusão de Insulina/efeitos adversos , Insulina/análogos & derivados , Lipodistrofia/prevenção & controle , Adolescente , Criança , Feminino , Humanos , Insulina/administração & dosagem , Lipodistrofia/diagnóstico , Lipodistrofia/etiologia , Masculino , Projetos Piloto , Resultado do TratamentoRESUMO
Although the clinical presentations of patients with pityriasis lichenoides et varioliformis acuta (PLEVA) may vary, bullae are not usually part of the clinical spectrum. To date, only two other cases of a bullous variant of PLEVA with evidence of autoantibodies against hemidesmosomal antigens have been reported. The term PLEVA pemphigoides was suggested for this unique clinical, pathological and serological combination of both PLEVA and bullous pemphigoid.
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Penfigoide Bolhoso , Pitiríase Liquenoide , Humanos , Pitiríase Liquenoide/diagnóstico , Pitiríase Liquenoide/tratamento farmacológicoRESUMO
Tinea capitis describes a dermatophyte infection of scalp and hair that predominately occurs in children. The diagnostic workup includes microscopic examination, culture and/or molecular tests. Treatment is guided by the specific organism involved and should consist of systemic agents as well as adjuvant topical treatment. The aim of the present update of the interdisciplinary German S1 guidelines is to provide dermatologists, pediatricians and general practitioners with a decision tool for selecting and implementing appropriate diagnostic and therapeutic measures in patients with tinea capitis. The guidelines were developed based on current international guidelines, in particular the 2010 European Society for Pediatric Dermatology guidelines and the 2014 British Association of Dermatologists guidelines, as well as on a review of the literature conducted by the guideline committee. This multidisciplinary committee consists of representatives from the German Society of Dermatology (DDG), the German-Speaking Mycological Society (DMykG), the German Society for Hygiene and Microbiology (DGHM), the German Society of Pediatric and Adolescent Medicine (DGKJ) and the German Society for Pediatric Infectious Diseases (DGPI). The Division of Evidence-based Medicine (dEBM) provided methodological assistance. The guidelines were approved by the participating medical societies following a comprehensive internal and external review.
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Antifúngicos/uso terapêutico , Tinha do Couro Cabeludo/diagnóstico , Tinha do Couro Cabeludo/tratamento farmacológico , Adulto , Criança , Cabelo/microbiologia , Humanos , Couro Cabeludo/microbiologia , TrichophytonAssuntos
Classe Ia de Fosfatidilinositol 3-Quinase , Fenótipo , Humanos , Feminino , Masculino , Classe Ia de Fosfatidilinositol 3-Quinase/genética , Fosfatidilinositol 3-Quinases/genética , Criança , Adolescente , Síndrome , Pré-Escolar , Adulto , Malformações Vasculares/genética , Malformações Vasculares/patologia , Malformações Vasculares/diagnóstico , Mutação , LactenteRESUMO
Neonatal and infantile erythroderma (NIE) represents the common clinical phenotype of heterogeneous diseases ranging from benign and transient skin conditions to fatal multiorgan disorders. NIE regularly demands a comprehensive diagnostic workup in a multiprofessional setting, especially if newborns and young infants with the disease develop a failure to thrive and concomitant infectious, neurologic, or metabolic complications. By obtaining a detailed medical history and performing a thorough clinical examination, targeted diagnostic steps can be scheduled for most affected children. If NIE occurs in the early neonatal period, lesional skin biopsy and histology are often indicated. Likewise, if monogenic skin or immunologic diseases are suspected, genetic testing with customized panels of potentially underlying genes is mandatory. Of note, if acute symptoms such as severe infections, metabolic acidosis, or seizures occur, rapid microbiologic and metabolic investigations are warranted to rule out immunodeficiency and inborn errors of metabolism.
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Dermatite Esfoliativa/diagnóstico , Pele/patologia , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , PediatrasRESUMO
Epidermolysis bullosa (EB) is a group of rare heterogeneous, genetic disorders. Currently, there is no effective pharmacological or genetic therapy for all EB subtypes. Dry extract from birch bark and betulin upregulate some pro-inflammatory mediators and downregulate others. The increase in pro-inflammatory cytokines is temporary and attenuated over long-term treatment. This inflammatory stimulus is thought to be prerequisite for a secondary anti-inflammatory response. Dry extract from birch bark and its active marker substances have also been shown to increase the migration of primary human keratinocytes, accelerate wound closure, and promote differentiation of keratinocytes in vitro and in vivo-processes that are essential for reepithelialization and maintenance of the skin barrier. Comprehensive clinical data are available to support the use of Oleogel-S10 in the treatment of partial thickness wounds of different etiologies, and a proof-of-concept Phase 2 study in patients with dystrophic EB has suggested the potential for faster reepithelialization of wounds treated with Oleogel-S10.