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BACKGROUND: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described. OBJECTIVE: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. METHODS: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. RESULTS: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. CONCLUSIONS: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.
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Background: Topical corticosteroids (TCS) are the mainstay of therapy for paediatric atopic dermatitis (AD). The use of TCS is often met with fear by parents. Assessing this parental TCS fear in clinical practice is still lacking. Aim: The aim was to assess parental fear and beliefs about TCS. Furthermore, we evaluated the quality of life (QoL) of the family and the disease severity of affected children. Methods: We conducted an observational study with a cross-sectional design. Inclusion criteria were children aged 0 to 5 years with a diagnosis of AD and outpatient treatment. The outcome measures were parental fears and beliefs about TCS, assessed with the "Topical Corticosteroid Phobia Score" (TOPICOP), parental QoL evaluated with the "Family Dermatology Life Quality Index", and disease severity, assessed with the "Scoring atopic dermatitis" (SCORAD). Descriptive statistic was used to analyse the data. Results: The current study found that in 40 affected children, 25 (62.5%), suffered from mild AD, 12 (30%) children had moderate AD, and 3 (7.5%) children had severe AD. TCS fear among parents was notable (mean TOPICOP score 18.1, standard deviation (SD) 7.1). The QoL was moderately affected (mean FDLQI score 6.5, SD 2.8). Conclusions: Our study indicates that fear of TCS is prevalent. Furthermore, our data indicate that severity of TCS fear varies markedly between parents, ranging from parents with almost no fear to parents with high levels of fear. For effective education in clinical practice, the individual level of fear must be recognized and taken into account.
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Dermatite Atópica , Medo , Pais , Qualidade de Vida , Humanos , Dermatite Atópica/psicologia , Dermatite Atópica/enfermagem , Dermatite Atópica/tratamento farmacológico , Masculino , Feminino , Pré-Escolar , Estudos Transversais , Qualidade de Vida/psicologia , Pais/psicologia , Medo/psicologia , Lactente , Corticosteroides/administração & dosagem , Corticosteroides/uso terapêutico , Recém-Nascido , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To investigate the efficacy of educational videos using storytelling to reduce parents' fear of topical corticosteroid (TCS) use in children affected by atopic dermatitis (AD). METHODS: Children aged 0 to 5 years who had AD were included. The primary outcome measures were parental fear of TCSs, as determined by Topical Corticosteroid Phobia score, and quality of life according to the Family Dermatology Life Quality Index. Disease severity, assessed by the Scoring Atopic Dermatitis tool, served as a secondary outcome measure. Assessments were performed at baseline (T1), 1 to 4 weeks later (T2), and at 3-month follow-up (T3). The intervention group was exposed to the videos between baseline and T2. RESULTS: Forty patients were recruited: 21 in the intervention group and 19 in the control group. A statistically significant decrease in parental TCS fear was found in the intervention group at T2 after video education as compared with the control group (P < .0001); this was maintained at T3 (P = .001). The groups did not significantly differ in FDLQI or SCORAD scores at any point. CONCLUSIONS: These findings suggest that video education based on the method of storytelling is effective in reducing TCS fear. Although the education did not impact disease severity or quality of life, effectively reducing TCS fear remains an important aspect for AD management.
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Dermatite Atópica , Fármacos Dermatológicos , Humanos , Criança , Dermatite Atópica/tratamento farmacológico , Qualidade de Vida , Pais/educação , Corticosteroides , Glucocorticoides , Medo , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
BACKGROUND: Somatic mosaicism for PIK3CA mutations causes various types of growth disorders, which have been summarized under the term PROS (PIK3CA related overgrowth spectrum). Targeted therapy with PI3K inhibitors seems to be a promising alternative for severe PROS cases. Therefore, PIK3CA testing may become more relevant in the future. METHODS: We report on 14 PROS patients, who had surgery for macrodactyly in the majority of cases. Clinical data were retrieved from the patient's records. Macroscopic and microscopic findings were retrospectively reviewed. Mutational analysis was performed on formalin-fixed paraffin-embedded (FFPE) material. RESULTS: Patient age ranged from 7 months to 35 years. Five patients showed additional anomalies. One patient had CLOVES syndrome. The majority of the specimens were ray resections characterized by hypertrophic fat tissue. Overall, microscopy was subtle. The abnormal adipose tissue showed lobules exhibiting at least focally fibrous septa. In each case, we could detect a PIK3CA mutation. CONCLUSION: Histology of affected fat tissue in PROS patients is overall nonspecific. Therefore, mutational analysis represents the key to the diagnosis, especially in unclear clinical cases. We demonstrated that FFPE material is suitable for PIK3CA testing, which can be considered as basis for targeted therapy with PI3K inhibitors.
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Anormalidades Musculoesqueléticas , Fosfatidilinositol 3-Quinases , Humanos , Lactente , Fosfatidilinositol 3-Quinases/genética , Estudos Retrospectivos , Mutação , Classe I de Fosfatidilinositol 3-Quinases/genética , Anormalidades Musculoesqueléticas/genéticaRESUMO
BACKGROUND AND OBJECTIVES: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system. PATIENTS AND METHODS: This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. RESULTS: The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. CONCLUSIONS: In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.
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Incontinência Pigmentar , Pré-Escolar , Éxons , Feminino , Humanos , Incontinência Pigmentar/diagnóstico , Incontinência Pigmentar/genética , Masculino , Mutação , Fenótipo , PeleRESUMO
HINTERGRUND: Incontinentia pigmenti ist eine seltene X-chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nervensystem betrifft. PATIENTEN UND METHODIK: Diese multizentrische Fallserienstudie wurde an drei europäischen Hautkliniken durchgeführt und umfasste 30 Patienten mit Incontinentia pigmenti. Zwanzig Patienten wurden klinisch und genetisch untersucht, weitere zehn nur genetisch. ERGEBNISSE: Die Studie umfasste 28 Frauen und zwei Männer mit einem medianen Alter von drei Jahren. Kutane Manifestationen zeigten sich bei allen 20 Patienten mit klinischen Daten. Stadium I wurde in 90 % dieser Patienten beobachtet. Stadium IV wurde bereits im Alter von einem Jahr beobachtet. Zahn- (81 %), Haar- (78 %) und neurologische Anomalien (53 %) waren häufiger als in bisherigen Berichten. Vierzehn Hautbiopsien zeigten typische Merkmale des entsprechenden Stadiums. Genetische Tests wurden bei 24 Patienten durchgeführt, von denen 14 die häufige Exon 4-10-Deletion und sieben andere pathogene Varianten aufwiesen, darunter drei unveröffentlichte Mutationen. In drei weiteren Fällen wurden keine genetischen Veränderungen gefunden. SCHLUSSFOLGERUNGEN: In dieser Studie reichte der Phänotyp von lediglich subtil ausgeprägter Hautbeteiligung bis hin zu schweren Multisystemerkrankungen. Die extrakutane Beteiligung sollte zum Zeitpunkt der Diagnose und in regelmäßigen Abständen evaluiert werden, da sich einige Manifestationen erst mit der Zeit entwickeln. SUMMARY: Background and objectives Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system. Patients and methods This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Results The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. Conclusions In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.
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Factors leading to the wide range of manifestations associated with Mycoplasma pneumoniae infection are unclear. We investigated whether M. pneumoniae genotypes are associated with specific clinical outcomes. We compared M. pneumoniae loads and genotypes of children with mucocutaneous disease to those of children with pneumonia, family members with upper respiratory tract infection (URTI), and carriers from a prospective cohort study (n = 47; 2016 to 2017) and to those of other children with mucocutaneous disease from a case series (n = 7; 2017 to 2020). Genotyping was performed using macrolide resistance determination, P1 subtyping, multilocus variable-number tandem-repeat analysis (MLVA), and multilocus sequence typing (MLST). Comparisons were performed with a pairwise Wilcoxon rank sum test and a Fisher exact test with corrections for multiple testing, as appropriate. M. pneumoniae loads did not statistically differ between patients with mucocutaneous disease and those with pneumonia or carriers. Macrolide resistance was detected in 1 (1.9%) patient with mucocutaneous disease. MLVA types from 2016 to 2017 included 3-5-6-2 (n = 21 [46.7%]), 3-6-6-2 (n = 2 [4.4%]), 4-5-7-2 (n = 14 [31.1%]), and 4-5-7-3 (n = 8 [17.8%]), and they correlated with P1 subtypes and MLST types. MLVA types were not associated with specific outcomes such as mucocutaneous disease, pneumonia, URTI, or carriage. They were almost identical within families but varied over geographic location. MLVA types in patients with mucocutaneous disease differed between 2016 to 2017 (3-5-6-2, n = 5 [62.5%]) and 2017 to 2020 (4-5-7-2, n = 5 [71.4%]) (P = 0.02). Our results suggest that M. pneumoniae genotypes may not determine specific clinical outcomes.
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Mycoplasma pneumoniae , Pneumonia por Mycoplasma , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Criança , Farmacorresistência Bacteriana , Genótipo , Humanos , Macrolídeos , Tipagem de Sequências Multilocus , Mycoplasma pneumoniae/genética , Pneumonia por Mycoplasma/tratamento farmacológico , Pneumonia por Mycoplasma/epidemiologia , Estudos ProspectivosRESUMO
Sleep problems are frequently reported in infants treated with propranolol for infantile hemangiomas, possibly serving as a marker for a negative impact on central nervous system function. In this cohort study, we objectively investigate the sleep behavior of infants with infantile hemangiomas on propranolol compared to a healthy, untreated control group. Sleep of propranolol-treated infants and controls was investigated using ankle actigraphy and a 24-h diary for 7-10 days at ages 3 and 6 months. The main outcome measures were the Number of Nighttime Awakenings and Sleep Efficiency. The main secondary outcome measures included 24-hour Total Sleep, daytime sleep behavior, and parent-rated infant sleep quality and behavioral development based on the Brief Infant Sleep Questionnaire (BISQ) and the age-appropriate Ages-and-Stages Questionnaire (ASQ), respectively. Fifty-four term-born infants were included in each cohort. No group difference in any investigated parameter was seen at age 3 months. At age 6 months, the propranolol group exhibited a decrease in Sleep Efficiency and a trend towards an increased Number of Nighttime Awakenings compared to the control group. Treated infants at 6 months also had shorter daytime waking periods. 24-hour Total Sleep was unaffected by propranolol. No negative impact of propranolol on subjective sleep quality and behavioral development was noted.Conclusion: Propranolol exerts a measurable yet mild impact on objectively assessed infants' sleep measures. Behavioral developmental scores were unaffected. Our results support propranolol as first-line therapy for complicated infantile hemangiomas. What is Known: ⢠Sleep disorders are frequently reported in infants with infantile hemangiomas treated with propranolol and often lead to treatment discontinuation. ⢠Investigations of the sleep pattern in this patient group using objective measures are lacking. What is New: ⢠The sleep pattern of propranolol-treated infants is assessed using actigraphy and a 24-h sleep diary and compared to healthy, untreated controls. ⢠Propranolol leads to a decreased sleep efficiency at night and an increased demand of daytime sleep, yet effects are mild overall.
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Hemangioma , Neoplasias Cutâneas , Transtornos do Sono-Vigília , Antagonistas Adrenérgicos beta , Estudos de Coortes , Humanos , Lactente , Propranolol/uso terapêutico , Sono , Transtornos do Sono-Vigília/etiologia , Resultado do TratamentoRESUMO
Sinus pericranii is a rare vascular anomaly characterized by an abnormal communication between the intra- and extracranial venous systems through a calvarial defect(s). We present three cases of congenital sinus pericranii with facial involvement, emphasizing its cutaneous presentation with diagnostic pitfalls and discuss the multidisciplinary management of this vascular anomaly.
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Seio Pericrânio , Malformações Vasculares , Administração Cutânea , Face , Humanos , Seio Pericrânio/diagnósticoRESUMO
BACKGROUND AND OBJECTIVES: Molluscum contagiosum (MC) is a common viral infection. Hypersensitivity reactions reminiscent of Gianotti-Crosti syndrome, termed Gianotti-Crosti syndrome-like reaction (GCLR), have been reported in a subset of patients. We report a series of patients with GCLR, better delineating its clinical presentation and course. PATIENTS AND METHODS: Retrospective chart review of all children presenting with GCLR at our Pediatric Skin Center between 2015 and 2020. RESULTS: 26 children (14 boys) with a median age of 6.5 (3-11.3) years were included. GCLR involved the extensor surfaces of the extremities in all patients. More widespread eruptions also affected the trunk and face in 7 (27 %) and 6 (23 %) children respectively. Involvement of the skin overlying the Achilles tendons was a new finding in 4 (15 %) children. Itch was the predominant symptom in 20 (77 %) patients. The rash responded to topical and/or systemic corticosteroids and resolved within four weeks. GCLR was followed by clearance of MC in all patients within 9 (4-24) weeks. CONCLUSIONS: GCLR is a characteristic acute, wide-spread, pruritic papular eruption, which often leads to emergency consultations and anxiety in affected patients. GCLR responds well to corticosteroid treatment, has a benign course, and heralds the healing of MC.
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Acrodermatite , Exantema , Molusco Contagioso , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Criança , Humanos , Masculino , Molusco Contagioso/diagnóstico , Molusco Contagioso/tratamento farmacológico , Estudos Retrospectivos , PeleRESUMO
HINTERGRUND UND ZIELE: Molluscum contagiosum (MC) ist eine häufige Virusinfektion der Haut. Bei gewissen Patienten mit MC kann eine Hypersensitivitätsreaktion ähnlich des Gianotti-Crosti-Syndroms beobachtet werden. Diese wird Gianotti-Crosti syndrome-like reaction (GCLR, Gianotti-Crosti-Syndrom-ähnliche Reaktion) genannt. Wir berichten über eine Kohorte von Patienten mit GCLR, um deren klinische Präsentation und Verlauf besser zu charakterisieren. PATIENTEN UND METHODIK: Retrospektive Studie mit Einschluss aller Kinder, welche sich zwischen 2015 und 2020 mit einer GCLR in unserem pädiatrischen Hautzentrum vorgestellt haben. RESULTATE: 26 Patienten (14 männlich) mit einem medianen Alter von 6.5 (3-11,3) Jahren wurden eingeschlossen. Die GCLR hat bei allen Patienten die Streckseiten der Extremitäten betroffen. Bei Kindern mit ausgedehntem Ausschlag waren bei 7 (27 %) auch der Stamm und bei 6 (23 %) auch das Gesicht mitbetroffen. Der Befall der Haut über der Achillessehne war ein auffälliges Phänomen bei 4 (15 %) Kindern. Juckreiz war das vorherrschende Symptom bei 20 (77 %) Patienten. Der Ausschlag hat gut auf die Behandlung mit topischen und/oder systemischen Kortikosteroiden angesprochen und ist innerhalb von 4 Wochen abgeklungen. Bei allen Patienten folgte innerhalb von 9 (4-24) Wochen nach der GCLR die Abheilung der MC. SCHLUSSFOLGERUNGEN: GCLR ist ein charakteristischer, akuter, ausgedehnter, juckender papulöser Ausschlag und führt häufig zu Notfallkonsultationen und Verunsicherung der betroffenen Patienten. Die GCLR spricht gut auf eine Behandlung mit Kortikosteroiden an, hat einen gutartigen Verlauf und geht der Abheilung der MC voraus.
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BACKGROUND: PHACE syndrome is a rare inborn condition characterized by large facial hemangiomas and variable malformations of the arterial system, heart, central nervous system, and eyes. According to Orphanet estimates, the prevalence is <1.0 per million. Data from Europe are limited to small case series, and there are no population-based data available. OBJECTIVES: We conducted the present study to provide population-based estimates of the disease prevalence of PHACE syndrome in children in Germany, Switzerland, and Austria. We compared these first systematic data on PHACE syndrome from Europe to published data from the PHACE Syndrome International Clinical Registry and Genetic Repository (USA). Clinical features in our cohort with PHACE syndrome were assessed in detail, including the need for early supportive measures. METHODS: We used a population-based approach by means of a previously well-established network of child neurologists from Germany, Switzerland, and Austria ("ESNEK") to identify potential patients. The patients' guardians and child neurologists were asked to fill in questionnaires developed in collaboration with the International PHACE Registry. RESULTS: We identified 19 patients with PHACE syndrome. Estimated prevalence rates were 6.5 per million in Switzerland, 0.59 per million in Germany, and 0.65 per million in Austria. A subset of 10 patients from Germany and Switzerland participated in our study, providing detailed clinical assessment (median age: 2.5 years; 9 females, 1 male). Cerebrovascular involvement was frequent (80%). Facial hemangioma extent correlated significantly with the number of organs involved (p = 0.011). In 9 out of 10 patients, facial hemangiomas were treated successfully with oral propranolol. Baseline demographic data as well as the rate of cerebrovascular and cardiovascular anomalies were in line with those from the US International PHACE Registry and other published PHACE cohorts. CONCLUSIONS: Our study provides population-based estimates for PHACE syndrome in 3 German-speaking countries. The data from Switzerland indicate that PHACE syndrome may be more prevalent than demonstrated by previous reports. Underreporting of PHACE syndrome in Germany and Austria likely accounts for the differences in prevalence rates. The clinical observation of a potential association between the size of facial hemangioma and extent of organ involvement warrants further investigation.
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Coartação Aórtica/diagnóstico , Coartação Aórtica/epidemiologia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/epidemiologia , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/epidemiologia , Áustria/epidemiologia , Encéfalo/anormalidades , Criança , Pré-Escolar , Estudos de Coortes , Face/anormalidades , Feminino , Alemanha/epidemiologia , Hemangioma/tratamento farmacológico , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Sistema de Registros , Suíça/epidemiologiaRESUMO
PURPOSE: To analyze and correlate preinterventional magnetic resonance (MR) imaging findings with clinical symptoms after percutaneous sclerotherapy of venous malformations (VMs) adjacent to the knee. MATERIALS AND METHODS: Twenty-five patients (mean age, 24 y; range, 7-55 y; 11 female) with 26 VMs adjacent to the knee undergoing sclerotherapy (direct puncture, diagnostic angiography, sclerosant injection) were identified, and MR imaging findings were analyzed. The VM involved the synovium of the knee joint in 19 of 26 cases (76%). These lesions were associated with joint effusion (3 of 19; 16%), hemarthrosis (4 of 19; 21%), or synovial thickening (16 of 19; 84%). Follow-up ended 6-8 weeks after the first or second sclerotherapy session if complete pain relief was achieved or 3 months after the third sclerotherapy session. Treatment outcomes were categorized as symptom improvement (complete or partial pain relief) or poor response (unchanged or increased pain). RESULTS: Forty-nine percutaneous sclerotherapy sessions were performed. Despite the absence of signs of knee osteoarthritis, patients with a VM involving the synovium (8 of 14; 57%) showed a poor response to sclerotherapy (1 of 8 [13%] pain-free after 1 sclerotherapy session). Among patients with VMs with no associated joint alteration and no synovial involvement (6 of 14; 43%), 5 of 6 (83%) showed improvement of symptoms after 1 sclerotherapy session (P < .05). CONCLUSIONS: Juxta-articular VMs of the knee are frequently associated with hemarthrosis and synovial thickening. Patients with signs of osteoarthritis and synovial involvement of the VM on presclerotherapy MR imaging deserve special consideration, as these findings predict worse clinical symptoms after sclerotherapy.
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Joelho/irrigação sanguínea , Imageamento por Ressonância Magnética , Soluções Esclerosantes/administração & dosagem , Escleroterapia , Membrana Sinovial/irrigação sanguínea , Malformações Vasculares/terapia , Veias/diagnóstico por imagem , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Soluções Esclerosantes/efeitos adversos , Escleroterapia/efeitos adversos , Resultado do Tratamento , Malformações Vasculares/diagnóstico por imagem , Veias/anormalidades , Adulto JovemRESUMO
We report the case of a 10-year-old girl with bullous Sweet syndrome, recalcitrant to high-dose systemic corticosteroids. Subsequent treatment with infliximab resulted in a rapid improvement in cutaneous lesions and systemic symptoms. Cutis laxa was noted in the healed skin. We propose early second-line treatment with infliximab in children with steroid-refractory Sweet syndrome.
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Cútis Laxa , Síndrome de Sweet , Criança , Feminino , Humanos , Infliximab/uso terapêutico , Pele , Síndrome de Sweet/diagnóstico , Síndrome de Sweet/tratamento farmacológicoRESUMO
Negative pressure wound treatment (NPWT) is very useful for the treatment of chronic or deep wounds and in the setting of skin grafting. Due to the need for adhesive dressings, this treatment is rarely attempted in patients with skin fragility secondary to hereditary epidermolysis bullosa (EB). We present a neonate with EB simplex, severe generalized in a critical clinical state where NPWT was successfully applied and describe the measures taken to avoid any further skin damage. This case is of clinical importance to physicians and health care staff treating patients with this rare disease where additional therapeutic measures for the treatment of chronic wounds are scarce.
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Epidermólise Bolhosa Simples , Epidermólise Bolhosa , Bandagens , Epidermólise Bolhosa/complicações , Epidermólise Bolhosa/terapia , Epidermólise Bolhosa Simples/genética , Epidermólise Bolhosa Simples/terapia , Humanos , Recém-Nascido , Pele , Transplante de PeleRESUMO
Storytelling as an innovative method of video-based education for parents of children with atopic dermatitis Abstract. Background: Atopic Dermatitis (AD) is the most chronic skin disease in children and affects up to 20 % of children in developed countries. Chronic inflammation of the skin, itching, redness, and non-dermatologic symptoms like sleep disturbance are frequent and have a negative impact on the child's quality of life and their family. Education is one of the most important aspects of managing AD. Aim: Production and evaluation of educational videos with the method storytelling for parents of children aged 0 to 5 years with atopic dermatitis. Methods: We produced the videos with the method of storytelling. The aim of storytelling is to help to recall important information more easily. A multi-professional team and parents of affected children tested the videos to ensure the understandability, the helpfulness and importance of the educational videos. Results: We created six different videos in all. The content of the educational videos includes information on the causes of AD, symptoms, skin care, treatment instruction and living with AD. We implemented the method of storytelling by two families with affected children who reported about their experience with the disease and the treatment. Three different specialists gave expert information. The evaluation showed that the information in the videos is simple, understandable and relevant. Conclusions: Evidence-based videos are an innovative, creative and modern method to support education. Storytelling is a user-friendly method to give simple and understandable information.
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Dermatite Atópica , Educação de Pacientes como Assunto , Transtornos do Sono-Vigília , Gravação em Vídeo , Criança , Pré-Escolar , Doença Crônica , Dermatite Atópica/complicações , Dermatite Atópica/diagnóstico , Dermatite Atópica/terapia , Humanos , Lactente , Recém-Nascido , Pais , Qualidade de Vida , Transtornos do Sono-Vigília/etiologiaRESUMO
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes. Remarkably, mutation c.1A>G occurred de novo and was recurrent in families originating from different countries. The striking similarities of the clinical features of the affected individuals point to a unique and very specific pathomechanism. We showed that mutations in the translation initiation codon of KLHL24 lead to the usage of a downstream translation initiation site with the same reading frame and formation of a truncated polypeptide. The pathobiology was examined in keratinocytes and fibroblasts of the affected individuals and via expression of mutant KLHL24, and we found mutant KLHL24 to be associated with abnormalities of intermediate filaments in keratinocytes and fibroblasts. In particular, KLHL24 mutations were associated with irregular and fragmented keratin 14. Recombinant overexpression of normal KLHL24 promoted keratin 14 degradation, whereas mutant KLHL24 showed less activity than the normal molecule. These findings identify KLHL24 mutations as a cause of skin fragility and identify a role for KLHL24 in maintaining the balance between intermediate filament stability and degradation required for skin integrity.
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Alelos , Códon de Iniciação/genética , Mutação , Proteínas Repressoras/genética , Anormalidades da Pele/genética , Pele/patologia , Adulto , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Pele/metabolismoRESUMO
The"Bork-Baykal phenomenon" refers to the sparing of the nipple-areola complex in large congenital melanocytic nevi involving the breast. So far, this finding has not been reported in vascular anomalies. We present four patients with an extensive capillary malformation (CM) involving the breast that was found to exhibit a similar sparing of the nipple and areola. All of these capillary nevi were associated with asymmetric overgrowth.
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Capilares/anormalidades , Classe I de Fosfatidilinositol 3-Quinases/genética , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Malformações Vasculares/diagnóstico , Malformações Vasculares/genética , Adolescente , Criança , Diagnóstico Diferencial , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Nevo Pigmentado/genética , Nevo Pigmentado/fisiopatologia , Mamilos , Estudos de Amostragem , Índice de Gravidade de Doença , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologiaRESUMO
Congenital hemangiomas are vascular tumors that are fully formed at birth, typically without postnatal growth. Noninvoluting congenital hemangiomas (NICH) have a distinctive clinical, radiologic, and histopathological profile and lack of expansion or involution over time. Herein, we describe two cases of NICH with atypical postnatal growth.