RESUMO
BACKGROUND: The factors associated with early relapse of infantile haemangioma (IH) after a first course of treatment with oral propranolol for at least six months (initiated after the marketing authorization had been granted) have not previously been investigated. OBJECTIVES: To identify factors associated with the risk of early relapse in children with IH treated with oral propranolol according to the current prescribing guidelines. METHODS: We performed a multicentre, retrospective, case-control study, using the Ouest Data Hub database. All children treated for at least 6â¯months with oral propranolol for IH between 31 June 2014 and 31 December 2021, and with a follow-up visit at least three months after treatment discontinuation were included. A case was defined as relapse of IH within three months of treatment discontinuation; each case was matched for age at treatment initiation and for centre, with four (relapse-free) controls. The association between relapse and treatment or IH characteristics was expressed as an odds ratio (OR) from univariate and multivariate conditional logistic regressions. RESULTS: A total of 225 children were included. Of these, 36 (16%) relapsed early. In a multivariate analysis, a deep IH component was a risk factor for early relapse [ORâ¯=â¯8.93; 95%CI: 1.0-78.9, pâ¯=â¯0.05]. A propranolol dosage level of less than 3â¯mg/kg/day protected against early relapse [ORâ¯=â¯0.11; 95%CI: 0.02-0.7, pâ¯=â¯0.02]. Tapering before propranolol discontinuation was not associated with a lower risk of early relapse. CONCLUSION: The risk factors for late and early relapse are probably different. Investigation of the risk factors for early vs. late IH relapse is now warranted.
Assuntos
Hemangioma Capilar , Neoplasias Cutâneas , Criança , Humanos , Lactente , Estudos de Casos e Controles , Estudos Retrospectivos , Propranolol/uso terapêutico , Doença Crônica , Resultado do Tratamento , Administração Oral , Neoplasias Cutâneas/tratamento farmacológicoRESUMO
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.
Assuntos
Transtornos Cromossômicos , Transição para Assistência do Adulto , Adulto , Humanos , Criança , Consenso , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/terapia , Deleção Cromossômica , Cromossomos Humanos Par 22/genéticaAssuntos
COVID-19 , Varicela , Herpes Zoster , Criança , Humanos , Pandemias , Estudos RetrospectivosRESUMO
BACKGROUND: Isotretinoin is an effective treatment for severe juvenile acne, but it appears to be underused in relation to the recommendations. Therapeutic inertia is defined as a failure to initiate or intensify treatment even when warranted by the recommendations. The aim of this study was to investigate therapeutic inertia among dermatologists (D), paediatricians (P), and general practitioners (GPs) in initiating isotretinoin for moderate-to-very severe juvenile acne. METHODS: Data were collected using a questionnaire distributed to French physicians through medical societies via Internet. The questions explored the role in inertia of factors related to physicians, patients, parents, and the healthcare system, and evaluated barriers and facilitators to prescribing isotretinoin. RESULTS: In all, 768 physicians responded to the survey (528 D, 178P, and 61 GPs; mean age: 51â¯years; women: 78â¯%). Their responses revealed that 99â¯% of dermatologists felt comfortable prescribing isotretinoin, compared with 8â¯% and 15â¯% of paediatricians and GPs (pâ¯<â¯0.05); 93â¯% of dermatologists were aware of the current guidelines compared with 37â¯% of paediatricians and GPs. Under 50â¯% of the physicians had received training on acne in the previous 3â¯years, regardless of specialty. The most frequently identified factors for inertia were concerns over the psychological consequences of the treatment in adolescents, exclusive requests from parents, and patient unavailability. Paediatricians reported having insufficient knowledge of current recommendations, a lack of training, and a tendency to anticipate poor compliance. Paediatricians and GPs considered that access to first-time prescriptions and peer-to-peer exchanges would constitute facilitating factors in their use of isotretinoin. DISCUSSION: Concerns over the psychiatric consequences of isotretinoin in adolescents, the need for frequent follow-up, and lack of continuing medical education were identified as factors favouring inertia in the initiation of isotretinoin treatment in patients with moderate-to-very severe juvenile acne, particularly among paediatricians and GPs. Potential strategies to overcome these barriers include regular training, simplified recommendations in French, and access to first-time prescription for paediatricians and GPs.
Assuntos
Acne Vulgar , Fármacos Dermatológicos , Clínicos Gerais , Adolescente , Humanos , Feminino , Pessoa de Meia-Idade , Isotretinoína/uso terapêutico , Dermatologistas , Acne Vulgar/tratamento farmacológico , Pediatras , Fármacos Dermatológicos/uso terapêuticoRESUMO
BACKGROUND: In France, many people consult "bonesetters" for several medical reasons. Little is known about them. We aimed to investigate the practices of traditional healers in France as well as their profile and that of their customers. METHODS: This was a survey carried out in Metropolitan France. A 33-item questionnaire developed by a multidisciplinary group was sent to a sample of 148 traditional healers found on the Internet and by word of mouth. RESULTS: Of the 148 questionnaires sent, 89 (60.1â¯%) were returned and 67 (45.3â¯%) were analyzed: 51.5â¯% (nâ¯=â¯34) of respondents were men, and the mean (±standard deviation) age was 51.6⯱â¯11.6â¯years. The respondents considered that they had received a gift of healing and were mainly magnetic healers (68.2â¯%). They became aware of this gift at a mean age of 19.9⯱â¯14.1â¯years. The traditional healers practiced mainly in rural areas (54.5â¯%), at home (59.1â¯%), and used their hands to transmit energy (95.5â¯%). They advertised their practice mainly by word of mouth (89.4â¯%) and had a predominantly female clientele (78.1â¯%). Various diseases were treated, with the most frequent being subjective complaints (pain, stress, fatigue, insomnia) and dermatological complaints (eczema, accidental and post-herpes-zoster burns, psoriasis, and warts). Most respondents considered their activities to be complementary to conventional medicine, and 10.9â¯% considered them more effective. Some indicated that they did not consider themselves "healers" but rather "providers of relief". DISCUSSION: The results of this survey provide a better understanding of this network of local care that revolves around medicine.
Assuntos
Medicina Tradicional , Profissionais de Medicina Tradicional , Masculino , Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Inquéritos e Questionários , FrançaRESUMO
BACKGROUND: Lingual microcystic lymphatic malformations (LMLMs) are rare congenital vascular malformations presenting as clusters of cysts filled with lymph fluid or blood. Even small well-limited lesions can be responsible for a heavy burden, inducing pain, aesthetic prejudice, or oozing, bleeding, infections. The natural history of LMLMs is progressive worsening punctuated by acute flares. Therapeutic options include surgery, laser excision, and radiofrequency ablation but all are potentially detrimental and expose to local relapse. Therefore, the management frequently relies on a "watchful waiting" approach. In complicated LMLMs, treatment with oral sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, is often used. Topical applications of sirolimus on the buccal mucosae have been reported in other oral diseases with good tolerance and none to slight detectable blood sirolimus concentrations. We aim to evaluate the efficacy and safety of a 1 mg/mL sirolimus solution applied once daily on LMLM of any stage in children and adults after 4, 8, 12, 16, 20, and 24 weeks of treatment compared to usual care (no treatment). METHODS: This is a randomized, multicentric study using an individually randomized stepped-wedge design over 24 weeks to evaluate topical application of a 1 mg/mL sirolimus solution once daily, on LMLM, versus usual care (no treatment), the control condition. Participants begin with an observational period and later switch to the intervention at a randomized time (week 0, 4, 8, or 12). Visits occur every 4 weeks, either in the study center or by teleconsulting. The primary outcome will be the evaluation of global severity of the LMLM on monthly standardized photographs by 3 independent blinded experts using the physical global assessment (PGA) 0 to 5 scale. Secondary outcomes will include lesion size measurement and quality of life assessment, investigator, and patient-assessed global disease and specific symptoms (oozing, bleeding, sialorrhea, eating impairment, taste modification, aesthetic impairment, pain, and global discomfort) assessment. A biological monitoring will be performed including residual blood sirolimus concentration and usual laboratory parameters. DISCUSSION: Given the disappointing state of current treatment options in LMLMs, topical sirolimus could become firstline therapy in treating LMLMs if its efficacy and safety were to be demonstrated. TRIAL REGISTRATION: ClinicalTrials.gov NCT04128722 . Registered on 24 September 2019. EudraCT: EUCTR2019-001530-33-FR Sponsor (University Hospital Center of Tours - CHRU Tours): DR190041-TOPGUN French regulatory authorities: ID RCB: 2019-001530-33.
Assuntos
Cistos , Anormalidades Linfáticas , Adulto , Criança , Cistos/tratamento farmacológico , Humanos , Imunossupressores/uso terapêutico , Anormalidades Linfáticas/diagnóstico , Anormalidades Linfáticas/tratamento farmacológico , Anormalidades Linfáticas/patologia , Estudos Multicêntricos como Assunto , Recidiva Local de Neoplasia , Dor/tratamento farmacológico , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Sirolimo , Resultado do TratamentoRESUMO
BACKGROUND: The COVID-19 pandemic has raised questions regarding the management of chronic skin diseases, especially in patients on systemic treatments. Data concerning the use of biologics in adults with psoriasis are reassuring, but data specific to children are missing. Moreover, COVID-19 could impact the course of psoriasis in children. OBJECTIVES: The aim of this study was therefore to assess the impact of COVID-19 on the psoriasis of children, and the severity of the infection in relation to systemic treatments. METHODS: We set up an international registry of paediatric psoriasis patients. Children were included if they were under 18 years of age, had a history of psoriasis, or developed it within 1 month of COVID-19 and had COVID-19 with or without symptoms. RESULTS: One hundred and twenty episodes of COVID-19 in 117 children (mean age: 12.4 years) were reported. The main clinical form of psoriasis was plaque type (69.4%). Most children were without systemic treatment (54.2%); 33 (28.3%) were on biologic therapies, and 24 (20%) on non-biologic systemic drugs. COVID-19 was confirmed in 106 children (88.3%) and 3 children had two COVID-19 infections each. COVID-19 was symptomatic for 75 children (62.5%) with a mean duration of 6.5 days, significantly longer for children on non-biologic systemic treatments (P = 0.02) and without systemic treatment (P = 0.006) when compared with children on biologics. The six children who required hospitalization were more frequently under non-biologic systemic treatment when compared with the other children (P = 0.01), and particularly under methotrexate (P = 0.03). After COVID-19, the psoriasis worsened in 17 cases (15.2%). Nine children (8%) developed a psoriasis in the month following COVID-19, mainly a guttate form (P = 0.01). DISCUSSION: Biologics appear to be safe with no increased risk of severe form of COVID-19 in children with psoriasis. COVID-19 was responsible for the development of psoriasis or the worsening of a known psoriasis for some children.
Assuntos
Produtos Biológicos , COVID-19 , Psoríase , Adolescente , Adulto , Fatores Biológicos/uso terapêutico , Produtos Biológicos/uso terapêutico , COVID-19/complicações , Criança , Progressão da Doença , Humanos , Metotrexato/uso terapêutico , Pandemias , Psoríase/complicações , Psoríase/tratamento farmacológico , Psoríase/epidemiologia , Sistema de RegistrosRESUMO
PURPOSE: Health-care transition (HCT) is a necessary part of the care process for allsick adolescents, to allow their empowerment while limiting disruption to follow-up care. Pseudoxanthoma elasticum (PXE) runs the risk of losing patients to follow-up because young patients are predominantly asymptomatic. This can be detrimental as it can prevent primary prevention measures from being properly implemented. The purpose of this study was to assess satisfaction of PXE patients with their health-care transition and to identify the factors associated with its success, in order to improve care management in young PXE patients. METHODS: Patients aged 22 to 40 years diagnosed with PXE before the age of 16 years were included from the cohort of patients followed at Angers University Hospital. They were sent a questionnaire for the purposes of collecting data on medical management during adolescence, transition and adulthood. RESULTS: Eleven responses were obtained from the 21 patients surveyed. The median satisfaction score of PXE patients regarding their transition was 5/10. Three patients reported having discontinued follow-up after transition. In adulthood, the majority of the participants were followed up by 4 specialists as recommended. It was incumbent on 50% of the patients who changed doctors to provide details of their own medical history to the new practitioner. CONCLUSION: Better intra-practitioner communication and a chart summarizing the principles of primary prevention, optimal follow-up care and its frequency are simple to implement and in all likelihood result in better health-care transition for young PXE patients.
Assuntos
Pseudoxantoma Elástico , Transição para Assistência do Adulto , Adolescente , Adulto , Criança , Humanos , Avaliação de Resultados da Assistência ao Paciente , Transferência de Pacientes , Pseudoxantoma Elástico/diagnóstico , Pseudoxantoma Elástico/terapia , Adulto JovemRESUMO
BACKGROUND: Growing evidence indicates that amoxicillin induces herpesvirus replication in vitro. As these play a central pathophysiological role in Drug Reaction with Eosinophilia and Systemic Symptoms syndrome (DRESS), amoxicillin could present with specific DRESS features. OBJECTIVE: To characterize the onset patterns of amoxicillin-associated DRESS. METHODS: All cases of DRESS (Kardaun score ≥4) involving amoxicillin and reported in the French Pharmacovigilance Database between January 1, 2004 and November 30, 2019 were included. Onset circumstances for these cases were categorized considering the onset delay from amoxicillin initiation, and the presence of concomitant medications with a compatible time to onset. RESULTS: A total of 146 probable cases or definite cases of DRESS were included. Three onset circumstances were identified: (i) 'amoxicillin clear culprit' where amoxicillin was the sole suspect drug or when concomitant drugs of compatible time to onset were not reported to cause DRESS (n = 62); (ii) 'amoxicillin possible culprit' in the presence of other potentially culprit drugs in addition to amoxicillin (n = 44) and (iii) 'flare' where amoxicillin, used after DRESS onset, induced flare-up reactions (n = 40). The median time to onset was 5 days (IQR 2-11) in 'clear culprit', and 18 days (IQR 7-26) in 'possible culprit' cases. In 'flare' cases, the median latency between amoxicillin initiation and flare-up reactions was 3 days (IQR 2-5). CONCLUSIONS: Amoxicillin can induce DRESS with a specific early onset and exacerbate DRESS from another drug.
Assuntos
Síndrome de Hipersensibilidade a Medicamentos , Eosinofilia , Amoxicilina/efeitos adversos , Bases de Dados Factuais , Síndrome de Hipersensibilidade a Medicamentos/epidemiologia , Síndrome de Hipersensibilidade a Medicamentos/etiologia , Eosinofilia/induzido quimicamente , Humanos , FarmacovigilânciaRESUMO
PURPOSE: PIK3CA pathogenic variants in the PIK3CA-related overgrowth spectrum (PROS) activate phosphoinositide 3-kinase signaling, providing a rationale for targeted therapy, but no drug has proven efficacy and safety in this population. Our aim was to establish the six-month tolerability and efficacy of low-dose taselisib, a selective class I PI3K inhibitor, in PROS patients. METHODS: Patients over 16 years with PROS and PIK3CA pathogenic variants were included in a phase IB/IIA multicenter, open-label single-arm trial (six patients at 1 mg/day of taselisib, then 24 at 2 mg/day). The primary outcome was the occurrence of dose limiting toxicity (DLT). Efficacy outcomes were the relative changes after treatment of (1) tissue volume at affected and unaffected sites, both clinically and on imaging; (2) cutaneous vascular outcomes when relevant; (3) biologic parameters; (4) quality of life; and (5) patient-reported outcomes. RESULTS: Among 19 enrolled patients, 2 experienced a DLT (enteritis and pachymeningitis) leading to early trial termination (17 treated, 10 completed the study). No serious adverse reaction occurred in the 1 mg cohort (n = 6). No significant reduction in affected tissue volume was observed (mean -4.2%; p = 0.81; SD 14.01). Thirteen (76.4%) participants reported clinical improvement (pain reduction, chronic bleeding resolution, functional improvement). CONCLUSION: Despite functional improvement, the safety profile of low-dose taselisib precludes its long-term use.
Assuntos
Síndrome de Klippel-Trenaunay-Weber , Syzygium , Adulto , Humanos , Imidazóis , Mutação , Oxazepinas , Fosfatidilinositol 3-Quinases/genética , Qualidade de VidaRESUMO
BACKGROUND: A marked increase in frequency of acute acral eruptions (AAE) was observed in children during the COVID-19 pandemic in the spring period. OBJECTIVES: In this observational multicenter study, based on children with AAE, we aimed to assess the proportion of household members possibly infected by SARS-CoV-2. METHODS: We collected data from all children observed with AAE, prospectively from April 7, 2020 to June 22, 2020, and retrospectively since February 28, 2020. The primary outcome was the household infection rate, defined as the proportion of family clusters having at least one member with COVID-19 infection other than the child with AAE ("index child"). The definition of a case was based on characteristic clinical signs and a positive PCR or serology. RESULTS: The study included 103 children in 10 French departments and in Quebec. The median age was 13 years and the interquartile range [8-15], with a female-to-male ratio of 1/1.15. In children with AAE, all PCR tests were negative (n=18), and serology was positive in 2/14 (14.3%) cases. We found no significant anomalies in the lab results. A total of 66 of the 103 families (64.1%) of included children had at least one other infected member apart from the index child. The total number of household members was 292, of whom 119 (40.8%) were considered possibly infected by SARS-CoV-2. No index children or households exhibited severe COVID-19. DISCUSSION: Among the 103 households included, 64.1% had at least one infected member. Neither children with AAE nor their households showed severe COVID-19.
Assuntos
COVID-19/complicações , Família , Adolescente , Anticorpos Antinucleares/sangue , COVID-19/transmissão , Pérnio/patologia , Criança , Eritema/patologia , Feminino , Hidradenite/patologia , Humanos , Imunoglobulina G/sangue , Linfócitos/patologia , Masculino , Mucinoses/patologia , Pandemias , Estudos Retrospectivos , Pele/patologia , Vasculite/patologiaRESUMO
BACKGROUND: Children with psoriasis may have been directly impacted by the COVID-19 pandemic and their illness may also have affected their ability to follow preventive measures. OBJECTIVE: To investigate the impact of the COVID-19 pandemic on children with psoriasis. METHODS: A survey of children (<18 years) with psoriasis, conducted from June 10 to June 29, 2020. RESULTS: In total, 92 children were included: 71.7% had psoriasis lesions at the time of home lockdown while 45.2% were receiving systemic treatments, and two contracted COVID-19. During lockdown, psoriasis worsened in 47.3% of the children and 18.8% stopped their systemic treatments, mainly for reasons linked to the pandemic. A total of 41.3% had a consultation for psoriasis during lockdown (71.1% by teleconsultation): 39.5% due to worsening of their psoriasis and 21.1% for pandemic-related issues. Among patients not having a consultation during lockdown, 27.5% had a cancellation by the doctor and 9.3% had concerns over going to see the doctor. Finally, 22.8% of patients reported finding it difficult to respect hygiene measures because of their psoriasis, e.g., application of alcohol-based hand sanitizers (47.6%), handwashing routines (42.9%), and wearing a mask (28.6%). CONCLUSIONS: This study demonstrates the major clinical impact of the COVID-19 pandemic on children with psoriasis. Teleconsultations played a key role in patient management as regards patient monitoring, provision of information, and renewal of treatments. It is vital that we learn from these data to improve and adapt the monitoring of chronic dermatoses in both children and adults in the event of a future health crisis.
Assuntos
COVID-19/epidemiologia , Pandemias , Psoríase/epidemiologia , Adolescente , Criança , Controle de Doenças Transmissíveis , Feminino , França/epidemiologia , Luvas Protetoras/efeitos adversos , Higienizadores de Mão/efeitos adversos , Humanos , Masculino , Máscaras/efeitos adversos , Consulta Remota/estatística & dados numéricos , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
The current COVID-19 pandemic is caused by the SARS-CoV-2 coronavirus. The initial recognized symptoms were respiratory, sometimes culminating in severe respiratory distress requiring ventilation, and causing death in a percentage of those infected. As time has passed, other symptoms have been recognized. The initial reports of cutaneous manifestations were from Italian dermatologists, probably because Italy was the first European country to be heavily affected by the pandemic. The overall clinical presentation, course and outcome of SARS-CoV-2 infection in children differ from those in adults, as do the cutaneous manifestations of childhood. In this review, we summarize the current knowledge on the cutaneous manifestations of COVID-19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe. In Part 1, we discussed one of the first and most widespread cutaneous manifestations of COVID-19, chilblain-like lesions. In this part of the review, we describe other manifestations, including erythema multiforme, urticaria and Kawasaki disease-like inflammatory multisystemic syndrome. In Part 3, we discuss the histological findings of COVID-19 manifestations, and the testing and management of infected children for both COVID-19 and any other pre-existing conditions.