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2.
Pediatr Dermatol ; 41(3): 549-550, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38299678

RESUMO

Infantile anogenital digitate keratoses (IADK) represent a distinct and under-recognized pediatric condition of the perianal area of infants, significantly more frequent in males than females. The average age of onset is 3.2 months, and it is self-remitting by 2 years of age. Perianal spiny keratoses resistant to usual topical therapies are the hallmark of IADK. We present a series of three cases of IADK seen at the dermatology clinic of the CHU Sainte-Justine to raise awareness on this pediatric condition, and to prevent invasive workup.


Assuntos
Ceratose , Humanos , Masculino , Lactente , Feminino , Ceratose/patologia , Ceratose/tratamento farmacológico , Doenças do Ânus/patologia , Doenças do Ânus/tratamento farmacológico , Canal Anal/anormalidades , Canal Anal/patologia
3.
J Pediatr ; 267: 113907, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38218370

RESUMO

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.


Assuntos
Coartação Aórtica , Anormalidades do Olho , Síndromes Neurocutâneas , Humanos , Lactente , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Síndromes Neurocutâneas/complicações , Anormalidades do Olho/complicações , Coartação Aórtica/complicações , Qualidade de Vida , Estudos Transversais , Cefaleia
4.
Pediatr Dermatol ; 40(5): 863-865, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37364926

RESUMO

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.


Assuntos
Epidermólise Bolhosa , Pseudomonas aeruginosa , Humanos , Epidermólise Bolhosa/complicações , Epidermólise Bolhosa/microbiologia
5.
Pediatr Dermatol ; 40(1): 28-34, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36127831

RESUMO

BACKGROUND/OBJECTIVES: We sought to describe the experience among members of the Hemangioma Investigator Group with pulsed dye laser (PDL) in the treatment of nonulcerated infantile hemangioma (IH) in pediatric patients in the pre- and post-beta-blocker era. METHODS: A multicenter retrospective cohort study was conducted in patients with nonulcerated IH treated with laser therapy. Patient demographics, IH characteristics, indications for/timing of laser therapy, as well as laser parameters were collected. Responses to laser therapy were evaluated using a visual analog scale (VAS). RESULTS: One hundred and seventeen patients with IH were treated with PDL. 18/117 (15.4%) had early intervention (defined as <12 months of life), and 99/117 (84.6%) had late intervention (≥12 months of life). In the late intervention group, 73.7% (73/99) had additional medical management of their IH. The mean age at PDL initiation for the late intervention group was 46.7 ± 35.3 months of life (range 12-172 months) with total number of treatments to maximal clearing of 4.2 ± 2.8 (range 1-17). Those who received propranolol prior to PDL received fewer sessions (1.1 fewer sessions, approaching significance [p = .056]).     On the VAS, there was a mean 85% overall improvement compared to baseline (range 18%-100%), with most improvement noted in erythema and/or telangiectasias. The incidence of adverse effects was 6/99 (6.1%). CONCLUSIONS: PDL is a useful tool in the treatment of IH, with notable improvement of telangiectasia and erythema and low risk of complications.   PDL is often introduced after the maximal proliferative phase.


Assuntos
Hemangioma Capilar , Hemangioma , Lasers de Corante , Humanos , Criança , Estudos Retrospectivos , Lasers de Corante/uso terapêutico , Hemangioma Capilar/radioterapia , Hemangioma Capilar/cirurgia , Hemangioma/radioterapia , Hemangioma/cirurgia , Hemangioma/etiologia , Antagonistas Adrenérgicos beta , Resultado do Tratamento
6.
Paediatr Child Health ; 27(5): 310-314, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36016596

RESUMO

Vascular anomalies are heterogeneous conditions that affect blood and/or lymphatic vessels. Affected children may experience pain, functional loss, infection, coagulopathies, and psychological challenges. Diagnosis and management often warrant an interdisciplinary approach. There are seven vascular anomalies clinics in Canada that offer interdisciplinary care. This practice point outlines a treatment approach for the most common paediatric vascular anomaly (hemangioma). It reviews indications for referral to a specialized clinic, with focus on complex vascular anomalies, specifically infantile hemangioma, which can pose complications.

7.
J Cutan Med Surg ; 26(5): 502-511, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35848765

RESUMO

BACKGROUND: Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life. METHODS: Medical records of patients under 18 years of age referred between 1996 and 2021 to the specialized lymphedema clinic at the Sainte-Justine University Hospital Center were reviewed. Demographic data, sex, age at presentation, location of the lymphedema, clinical features, genetic testing, symptoms, complications, investigations, and treatment were collected. RESULTS: Of 180 referred patients, lymphedema was confirmed in 151, and 137 were primary lymphedema. Median age of apparition of primary lymphedema was 7.00 years and was significantly lower in boys than in girls. Primary congenital lymphedema was more frequent in boys (51.0%, 27.3% in girls, P = .007), and onset of primary lymphedema during adolescence was more frequent in girls (53.4%, 25.0% in boys, P = .001). Lower limbs were the most impacted (88.3%). Sixty patients had genetic testing, and 38 (63.3%) of them were discovered to have a pertinent genetic mutation. The most common mutated gene was the FLT4 gene (in 9 patients). Seven patients (5.1%) had associated extensive/central lymphatic malformation and 24 (17.6%) had a polymalformative syndrome/syndromic lymphedema. CONCLUSIONS: Pediatric lymphedema is more frequent in girls, usually involves lower limb, and is most often sporadic, but often associated with a genetic mutation, and genetic testing should be performed.


Assuntos
Linfedema , Qualidade de Vida , Adolescente , Criança , Feminino , Testes Genéticos , Humanos , Extremidade Inferior , Linfedema/epidemiologia , Linfedema/genética , Masculino , Encaminhamento e Consulta
8.
Pediatr Blood Cancer ; 69(10): e29869, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35731233

RESUMO

INTRODUCTION: Genetically targeted drugs in vascular anomalies (VA) are used despite the absence of a validated severity score. The aim of this study was to evaluate the feasibility of grouping phenotypic VA clinical characteristics into a single severity score. METHODS: A systematic literature review including children treated with sirolimus accompanied by a detailed description of phenotype and management was conducted. Demographic data and clinical features were extracted to define distinct categories of phenotypes. RESULTS: Children with VA display two main phenotypes regardless of VA subtype, which may overlap. A systemic phenotype results from direct invasion and compression of vital structures generally leading to hospitalization and aggressive management in infancy. A functional phenotype is associated with chronic pain and disability manifesting mainly during early adolescence and managed in the outpatient setting. CONCLUSION: The two distinct phenotypes described could be the basis for developing a unified scoring system for VA severity assessment.


Assuntos
Malformações Vasculares , Humanos , Fenótipo , Sirolimo/uso terapêutico , Malformações Vasculares/complicações , Malformações Vasculares/genética , Malformações Vasculares/terapia
9.
J Cutan Med Surg ; 26(4): 349-360, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35167768

RESUMO

BACKGROUND: Cutaneous hematologic malignancies are rare in children, and the literature about them is still sparse. OBJECTIVE: The purpose of our study was to report our experience with pediatric cases of cutaneous hematologic disorders and describe their clinical and histological features. METHODS: Data were retrospectively collected from the histopathologic database of the CHU Sainte-Justine, University of Montreal, Montreal, Canada. All patients up to 18 years of age with a diagnosis of a primary cutaneous lymphoma (including lymphomatoid papulosis), secondary cutaneous lymphoma or cutaneous manifestations of leukemia, followed from 1980 to 2019 at our center were reviewed. RESULTS: Thirty-six patients were included. Age at presentation ranged from birth to 18 years of age (mean 7.83 ± 5.16; median 7.0). Ten different hematologic disorders were identified according to the WHO-EORTC classifications: lymphomatoid papulosis (10 cases), mycosis fungoides (6 cases), anaplastic large cell lymphoma (4 cases), pre-B acute lymphoid leukemia (5 cases), primary cutaneous marginal zone B-cell lymphoma (4 cases), primary cutaneous CD4+medium T-cell lymphoproliferative disorder (1 case), extranodal NK/T-cell lymphoma (1 case), hydroa vacciniforme-like lymphoproliferative disorder (1 case), B-cell lymphoblastic lymphoma (1 case) and acute myeloid leukemia (3 cases). CONCLUSION: The most common subtype of cutaneous hematologic disease in our single institution study was lymphomatoid papulosis (type A and type C), followed by mycosis fungoides. Recognition of this large clinical and histological spectrum by dermatologists is important because diagnosis is often established by biopsy of skin lesions, even in secondary cutaneous cases. Moreover, the clinicopathological correlation is of utmost importance for the final diagnosis of those pathologies.


Assuntos
Doenças Hematológicas , Leucemia , Linfoma de Células B , Linfoma Cutâneo de Células T , Linfoma , Papulose Linfomatoide , Micose Fungoide , Neoplasias Cutâneas , Adolescente , Criança , Doenças Hematológicas/complicações , Humanos , Leucemia/complicações , Linfoma/complicações , Linfoma/diagnóstico , Linfoma de Células B/complicações , Linfoma Cutâneo de Células T/patologia , Papulose Linfomatoide/diagnóstico , Micose Fungoide/diagnóstico , Micose Fungoide/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologia
10.
Paediatr Drugs ; 24(1): 29-43, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34677814

RESUMO

Infantile hemangioma (IH) is the most common benign vascular tumor of infancy, affecting about 5% of infants. It has a characteristic growth pattern of early rapid proliferation followed by progressive involution. Although most IH evolve favorably, complications are observed in 10-15% of cases, justifying treatment. For over 10 years now, propranolol has become the first-line therapy for complicated IH, revolutionizing their management and their prognosis. In this article, we review the clinical features, associations, complications/sequelae and therapeutic approaches for IH, focusing on current medical therapy. Indications for treatment and various treatment options, including propranolol and other oral ß-blockers, topical timolol, and corticosteroids are presented. Current controversies regarding oral propranolol such as pre-treatment screening, in- vs out-patient initiation of treatment, early and potential long-term side effects and recommended monitoring are discussed.


Assuntos
Hemangioma , Neoplasias Cutâneas , Corticosteroides/uso terapêutico , Antagonistas Adrenérgicos beta/uso terapêutico , Hemangioma/tratamento farmacológico , Humanos , Lactente , Propranolol/uso terapêutico , Timolol , Resultado do Tratamento
11.
Clin Breast Cancer ; 22(2): 103-114, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34903452

RESUMO

PRECLINICAL STUDIES: have demonstrated a complex cross-talk between Notch and estrogen signaling in ERα-positive breast cancer. Gamma-secretase inhibitors (GSIs) are investigational agents that block the cleavage and activation of Notch receptors. In animal models of endocrine-resistant breast cancer, combinations of tamoxifen and GSIs produce additive or synergistic efficacy, while decreasing the intestinal toxicity of GSIs. However, results of a clinical trial of a GSI-endocrine therapy combination in the metastatic setting have not been published to date, nor had the safety of such combinations been investigated with longer term treatment. We conducted a phase 1b dose escalation trial (NCT01149356) of GSI RO4929097 with exemestane in patients with ERα+, metastatic breast cancer (MBC) STUDY OBJECTIVES: To determine the safety, tolerability and maximum tolerated dose (MTD) or recommended phase 2 dose (RP2D) of RO4929097 when administered in combination with exemestane in patients with estrogen receptor positive metastatic breast cancer RESULTS: We enrolled 15 patients with MBC. Of 14 evaluable patients, one had a partial response, 6 had stable disease and 7 progressive disease. Twenty % of patients had stable disease for ≥ 6 months. Common toxicities included nausea (73.3%), anorexia (60%), hyperglycemia (53.3%), hypophosphatemia (46.7%), fatigue (66.7%) and cough (33.0%). Grade 3 toxicities were uncommon, and included hypophosphatemia (13%) and rash (6.3%). Rash was the only DLT observed at 140 mg/d. Results suggest a possible recommended phase 2 dose of 90 mg/d. Ten patients with evaluable archival tissue showed expression of PKCα, which correlated with expression of Notch4. Mammospheres from a PKCα-expressing, endocrine-resistant T47D cell line were inhibited by a GSI-fulvestrant combination CONCLUSIONS: Our data indicate that combinations including endocrine therapy and Notch inhibitors deserve further investigation in endocrine-resistant ERα-positive breast cancer.


Assuntos
Androstadienos/uso terapêutico , Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Benzazepinas/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Fluorocarbonos/uso terapêutico , Idoso , Neoplasias da Mama/patologia , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Humanos , Dose Máxima Tolerável , Pessoa de Meia-Idade , Metástase Neoplásica , Receptor Notch3 , Receptores Notch/uso terapêutico
12.
Pediatr Blood Cancer ; 68(12): e29364, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34596969

RESUMO

Off-label drug prescribing, frequent in the treatment of vascular anomalies (VA), relies on the quality of the literature reporting drug efficacy and safety. Our objective is to review the level of evidence (LOE) surrounding drug use in VA, which is more prevalent in pediatric care. A list of drugs used in VA was created with a literature review in July 2020. For each drug listed, the article displaying the highest LOE was determined and then compared between efficacy/safety data, routes of administration, pharmacological categories and a subset of VA. The influence of research quality on study results was also explored. The median LOE for the 74 drugs identified poor methodological quality, with a predominance of retrospective studies or case reports. Drug safety is currently inadequately reported. This is alarming as many treatments display significant safety concerns. Also, current literature displays major publication bias that probably leads to overestimation of drug efficacy in VA.


Assuntos
Escleroterapia , Malformações Vasculares , Criança , Humanos , Uso Off-Label , Preparações Farmacêuticas , Estudos Retrospectivos , Malformações Vasculares/tratamento farmacológico
13.
JAMA Dermatol ; 157(11): 1289-1298, 2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34524406

RESUMO

IMPORTANCE: Sirolimus is increasingly being used to treat various vascular anomalies, although evidence of its efficacy is lacking. OBJECTIVE: To assess the efficacy and safety of sirolimus for children with slow-flow vascular malformations to better delineate the indications for treatment. DESIGN, SETTING AND PARTICIPANTS: This multicenter, open-label, observational-phase randomized clinical trial included 59 children aged 6 to 18 years with a slow-flow vascular malformation who were recruited between September 28, 2015, and March 22, 2018, in 11 French tertiary hospital centers. Statistical analysis was performed on an intent-to-treat basis from December 4, 2019, to November 10, 2020. INTERVENTIONS: Patients underwent an observational period, then switched to an interventional period when they received oral sirolimus (target serum levels, 4-12 ng/mL). The switch time was randomized from month 4 to month 8, and the whole study period lasted 12 months for each patient. MAIN OUTCOMES AND MEASURES: The primary outcome was change in the volume of vascular malformations detected on magnetic resonance imaging scan (with centralized interpretation) per unit of time (ie, between the interventional period and the observational period). Secondary outcomes included subjective end points: pain, bleeding, oozing, quality of life, and safety. RESULTS: Among the participants (35 girls [59.3%]; mean [SD] age, 11.6 [3.8] years), 22 (37.3%) had a pure venous malformation, 18 (30.5%) had a cystic lymphatic malformation, and 19 (32.2%) had a combined malformation, including syndromic forms. Variations in the volume of vascular malformations detected on magnetic resonance imaging scans associated with the duration period were not overall significantly different between the interventional period and the observational period (all vascular malformations: mean [SD] difference, -0.001 [0.007]; venous malformations: mean [SD] difference, 0.001 [0.004]; combined malformations: mean [SD] difference, 0.001 [0.009]). However, a significant decrease in volume was observed for children with pure lymphatic malformations (mean [SD] difference, -0.005 [0.005]). Overall, sirolimus had positive effects on pain, especially for combined malformations, and on bleeding, oozing, self-assessed efficacy, and quality of life. During sirolimus treatment, 56 patients experienced 231 adverse events (5 serious adverse events, none life-threatening). The most frequent adverse event was an oral ulcer (29 patients [49.2%]). CONCLUSIONS AND RELEVANCE: This observational-phase randomized clinical trial allows for clarifying the goals of patients and families when starting sirolimus therapy for children older than 6 years. Pure lymphatic malformations seem to be the best indication for sirolimus therapy because evidence of decreasing lymphatic malformation volume per unit of time, oozing, and bleeding and increasing quality of life was found. In combined malformations, sirolimus significantly reduced pain, oozing, and bleeding. Benefits seemed lower for pure venous malformations than for the 2 other subgroups, also based on symptoms. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02509468; clinicaltrialsregister.eu Identifier: 2015-001096-43.


Assuntos
Anormalidades Linfáticas , Malformações Vasculares , Adolescente , Criança , Feminino , Humanos , Anormalidades Linfáticas/tratamento farmacológico , Qualidade de Vida , Sirolimo/efeitos adversos , Resultado do Tratamento , Malformações Vasculares/complicações , Malformações Vasculares/tratamento farmacológico
14.
AJR Am J Roentgenol ; 217(2): 507-514, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34036811

RESUMO

OBJECTIVE. PHACES syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defect with or without supraumbilical raphe. Usually, brain imaging is performed when facial hemangiomas are larger than 5 cm. Data on associated anomalies regardless of hemangioma size are sparse. The objective of this study was to determine, first, the prevalence of PHACES-like associated anomalies in a large sample of infants with all sizes of segmental facial or periorbital focal infantile hemangioma and, second, whether the cutaneous localization of the hemangioma correlates with the type of anomalies present. MATERIALS AND METHODS. The records of all patients of a vascular anomalies practice who had a diagnosis of segmental facial or periorbital focal infantile hemangioma and who had clinical photographs and brain MRI available were reviewed. The clinical photographs were reviewed to determine the localization by segment and lateralization. MRI was reviewed by two experienced pediatric radiologists. If present, cardiovascular anomalies, sternal defects, and eye anomalies were recorded. The criteria for definite and possible PHACES were used. RESULTS. The study included 122 children (90 girls, 32 boys; mean age, 16.6 months). Forty-five (36.9%) children had a facial infantile hemangioma larger than 5 cm. Twenty-two patients (18.0%) had PHACES or possible PHACES syndrome. Cerebrovascular structural anomalies were seen in 14 of 22 and brain anomalies in 6 of 22 patients with PHACES syndrome but in none and one of the patients in the group without PHACES (p < .001). Cardiovascular anomalies were seen in six patients and ocular anomalies in eight patients. All but one of them had PHACES syndrome. CONCLUSION. Clinical concern about associated extracutaneous anomalies is warranted for all children with facial segmental or periorbital focal infantile hemangiomas, including those with small hemangiomas. Further studies are needed to correlate cerebrovascular anomalies with the clinical evolution of hemangiomas and their effects on cerebral perfusion.


Assuntos
Coartação Aórtica/complicações , Coartação Aórtica/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Anormalidades do Olho/complicações , Anormalidades do Olho/patologia , Hemangioma/complicações , Imageamento por Ressonância Magnética/métodos , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Hemangioma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Medição de Risco , Síndrome
15.
Dermatology ; 237(4): 649-657, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33823514

RESUMO

BACKGROUND: Off-label drug use is associated with an increased risk of adverse drug reactions. It is common in pediatrics and in rare diseases, which are two characteristics applying to vascular anomalies (VA). OBJECTIVES: The aim of this work was to quantify off-label drug use in VA and assess its safety. METHODS: A review was conducted to extract a list of drugs used in VA management. A drug was considered to have significant safety concerns if a black box warning was present or if a serious adverse drug reaction (SADR) was reported in at least 1% of the patients (SADR is defined as a noxious and unintended response to a drug that occurs at any dose and results in hospitalization, prolongation of existing hospitalization, congenital malformation, persistent or significant disability or incapacity, life-threatening condition, or death). The labelling status and safety of each drug was assessed based on the product monograph, Micromedex, and the FDA data. RESULTS: We found that 98.9% of the inventoried drugs were used off-label or unlicensed for VA management. Only the oral solution of propranolol hydrochloride (Hemangeol®) for the treatment of infantile hemangiomas is approved. Significant safety issues concerned 73% of the drugs and were more frequent among systemic than locally delivered drugs. CONCLUSIONS: Off-label drug use in VA is the rule and not the exception. Significant safety concerns are common. It is necessary to carefully weigh risk and benefits for every patient when using systemic and local treatments carrying safety concerns. Patients should be openly informed and involved in the decision-making process.


Assuntos
Vasos Sanguíneos/anormalidades , Rotulagem de Medicamentos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Uso Off-Label , Anormalidades Congênitas/tratamento farmacológico , Humanos , Preparações Farmacêuticas
16.
J Am Acad Dermatol ; 85(2): 345-352, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-32289387

RESUMO

BACKGROUND: Initial propranolol recommendations for infantile hemangioma published in 2013 were intended as provisional best practices to be updated as evidence-based data emerged. METHODS: A retrospective multicenter study was performed to evaluate utility of prolonged monitoring after first propranolol dose and escalation(s). Inclusion criteria included diagnosis of hemangioma requiring propranolol of greater than or equal to 0.3 mg/kg per dose, younger than 2 years, and heart rate monitoring for greater than or equal to 1 hour. Data collected included demographics, dose, vital signs, and adverse events. RESULTS: A total of 783 subjects met inclusion criteria; median age at initiation was 112 days. None of the 1148 episodes of prolonged monitoring warranted immediate intervention or drug discontinuation. No symptomatic bradycardia or hypotension occurred during monitoring. Mean heart rate change from baseline to 1 hour was -8.19/min (±15.54/min) and baseline to 2 hours was -9.24/min (±15.84/min). Three preterm subjects had dose adjustments because of prescriber concerns about asymptomatic vital sign changes. No significant difference existed in pretreatment heart rate or in heart rate change between individuals with later adverse events during treatment and those without. CONCLUSION: Prolonged monitoring for initiation and escalation of oral propranolol rarely changed management and did not predict future adverse events. Few serious adverse events occurred during therapy; none were cardiovascular.


Assuntos
Hemangioma Capilar/tratamento farmacológico , Monitorização Fisiológica/métodos , Propranolol/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Sinais Vitais , Administração Oral , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
17.
Pediatr Dermatol ; 38(1): 119-124, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33247481

RESUMO

BACKGROUND/OBJECTIVES: Patients with epidermolysis bullosa (EB) require care of wounds that are colonized or infected with bacteria. A subset of EB patients are at risk for squamous cell carcinoma, and bacterial-host interactions have been considered in this risk. The EB Clinical Characterization and Outcomes Database serves as a repository of information from EB patients at multiple centers in the United States and Canada. Access to this resource enabled broad-scale analysis of wound cultures. METHODS: A retrospective analysis of 739 wound cultures from 158 patients from 13 centers between 2001 and 2018. RESULTS: Of 152 patients with a positive culture, Staphylococcus aureus (SA) was recovered from 131 patients (86%), Pseudomonas aeruginosa (PA) from 56 (37%), and Streptococcus pyogenes (GAS) from 34 (22%). Sixty-eight percent of patients had cultures positive for methicillin-sensitive SA, and 47%, methicillin-resistant SA (18 patients had cultures that grew both methicillin-susceptible and methicillin-resistant SA at different points in time). Of 15 patients with SA-positive cultures with recorded mupirocin susceptibility testing, 11 had mupirocin-susceptible SA and 6 patients mupirocin-resistant SA (2 patients grew both mupirocin-susceptible and mupirocin-resistant SA). SCC was reported in 23 patients in the entire database, of whom 10 had documented wound cultures positive for SA, PA, and Proteus species in 90%, 50%, and 20% of cases, respectively. CONCLUSIONS: SA and PA were the most commonly isolated bacteria from wounds. Methicillin resistance and mupirocin resistance were reported in 47% and 40% of patients tested, respectively, highlighting the importance of ongoing antimicrobial strategies to limit antibiotic resistance.


Assuntos
Epidermólise Bolhosa , Infecções Estafilocócicas , Antibacterianos/uso terapêutico , Canadá , Epidermólise Bolhosa/complicações , Epidermólise Bolhosa/tratamento farmacológico , Humanos , Mupirocina , Estudos Retrospectivos , Infecções Estafilocócicas/tratamento farmacológico , Staphylococcus aureus
18.
Exp Dermatol ; 29(10): 961-969, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32885477

RESUMO

Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools.


Assuntos
Epidermólise Bolhosa Simples/genética , Queratina-14/genética , Queratina-15/genética , Simulação por Computador , Epidermólise Bolhosa Simples/patologia , Feminino , Dermatoses do Pé/genética , Úlcera do Pé/genética , Úlcera do Pé/patologia , Dermatoses da Mão/genética , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Doenças da Unha/genética , Fenótipo
19.
J Cutan Med Surg ; 24(3): 297-303, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32293201

RESUMO

As part of an in-depth review of the specialty for the Royal College of Physicians and Surgeons of Canada (RCPSC), the Dermatology Working Group (DWG) was tasked with leading a comprehensive and objective analysis of the current state of Dermatology practice and training patterns in Canada. Preliminary research for the report was conducted in 3 areas: a jurisdictional analysis, a literature review, and a landscape overview. The results of this research were published in the spring 2019 edition of the Journal of Cutaneous Medicine and Surgery. Various factors impacting the discipline were explored, including trends in the workforce, population needs, accessibility, and wait times, as well as issues in undergraduate and postgraduate medical education. The DWG, supported by the RCPSC's Office of Specialty Education, used information gained from the reviews, a national survey, and stakeholder perspectives to develop recommendations that address the current challenges and build upon opportunities for advancement in the specialty.


Assuntos
Dermatologia/educação , Padrões de Prática Médica , Recursos Humanos/estatística & dados numéricos , Canadá , Educação Médica , Humanos
20.
Pediatr Dermatol ; 37(3): 412-418, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32298480

RESUMO

The COVID-19 pandemic has caused significant shifts in patient care including a steep decline in ambulatory visits and a marked increase in the use of telemedicine. Infantile hemangiomas (IH) can require urgent evaluation and risk stratification to determine which infants need treatment and which can be managed with continued observation. For those requiring treatment, prompt initiation decreases morbidity and improves long-term outcomes. The Hemangioma Investigator Group has created consensus recommendations for management of IH via telemedicine. FDA/EMA-approved monitoring guidelines, clinical practice guidelines, and relevant, up-to-date publications regarding initiation and monitoring of beta-blocker therapy were used to inform the recommendations. Clinical decision-making guidelines about when telehealth is an appropriate alternative to in-office visits, including medication initiation, dosage changes, and ongoing evaluation, are included. The importance of communication with caregivers in the context of telemedicine is discussed, and online resources for both hemangioma education and propranolol therapy are provided.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Hemangioma/terapia , Pneumonia Viral/epidemiologia , Neoplasias Cutâneas/terapia , Telemedicina , Antagonistas Adrenérgicos beta/uso terapêutico , COVID-19 , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/transmissão , Hemangioma/patologia , Humanos , Lactente , Recém-Nascido , Pandemias/prevenção & controle , Seleção de Pacientes , Pneumonia Viral/prevenção & controle , Pneumonia Viral/transmissão , SARS-CoV-2 , Neoplasias Cutâneas/patologia
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