Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 26
Filtrar
2.
Pediatr Dermatol ; 39(6): 914-919, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36440997

RESUMO

BACKGROUND AND OBJECTIVES: Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e., Sturge-Weber syndrome) or pigmentary birthmarks (i.e., phakomatosis pigmentovascularis). The use of targeted genetic sequencing has revealed that postzygotic somatic variations in GNAQ and GNA11 at codon 183 are associated with CMs. We report five patients with early-onset hypertension and discuss possible pathogenesis of hypertension. METHODS: Twenty-nine patients with CMs, confirmed GNAQ/11 postzygotic variants, and documented past medical history were identified from a multi-institutional vascular anomalies study. Early-onset hypertension was defined as hypertension before the age of 55 years. Clinical data were reviewed for evidence of hypertension, such as documentation of diagnosis or elevated blood pressure measurements. RESULTS: Five of the 29 patients identified as having GNAQ/11 postzygotic variants had documented early-onset hypertension. Three individuals harbored a GNAQ p.R183Q variant, and two individuals harbored a GNA11 p.R183C variant. All individuals had extensive cutaneous CMs involving the trunk and covering 9%-56% of their body surface area. The median age of hypertension diagnosis was 15 years (range 11-24 years), with three individuals having renal abnormalities on imaging. CONCLUSIONS: Early-onset hypertension is associated with extensive CMs harboring somatic variations in GNAQ/11. Here, we expand on the GNAQ/11 phenotype and hypothesize potential mechanisms driving hypertension. We recommend serial blood pressure measurements in patients with extensive CMs on the trunk and extremities to screen for early-onset hypertension.


Assuntos
Hipertensão , Malformações Vasculares , Humanos , Extremidades , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Subunidades alfa de Proteínas de Ligação ao GTP/genética
3.
Pediatr Dermatol ; 39(4): 587-589, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35613693

RESUMO

Multispecialty clinics can be exceedingly helpful for diagnostically challenging and clinically complicated patients. This study highlights the diagnostic outcomes of the multispecialty Pediatric Dermatology-Genetics clinic at Children's Mercy-Kansas City over a 5-year period.


Assuntos
Dermatologia , Instituições de Assistência Ambulatorial , Criança , Humanos
4.
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
5.
Pediatr Dermatol ; 34(3): 369-370, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28318041

RESUMO

Decreasing wait time for pediatric dermatology appointments is important to patients. We retrospectively examined the effect of a referral-only policy on patient wait time for an initial appointment in an academic pediatric dermatology clinic and found a statistically significant decrease in wait time after the policy was instituted.


Assuntos
Instituições de Assistência Ambulatorial/estatística & dados numéricos , Agendamento de Consultas , Pacientes Ambulatoriais/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Listas de Espera , Criança , Dermatologia , Humanos , Estudos Retrospectivos
6.
Pediatr Dermatol ; 34(2): 211-213, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28297141

RESUMO

The precise etiology and subtype of vessels constituting angiokeratomas is poorly understood. We sought to characterize the vessels by studying prospero-related homeobox gene-1 and D2-40 expression in 22 pediatric solitary angiokeratomas. Routine histologic examination demonstrated a mix of lymph-containing vessels and erythrocyte-filled small vessels. Our results suggest that angiokeratomas may in part be comprised of vessels with lymphatic differentiation.


Assuntos
Angioceratoma/patologia , Neoplasias Cutâneas/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
8.
Pediatr Dermatol ; 33(2): 178-83, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26863906

RESUMO

BACKGROUND: Twins have a higher-than-expected risk of infantile hemangiomas (IHs), but the exact reasons for this association are not clear. Comparing concordant and discordant twin pairs might help elucidate these factors and yield more information about IH risk factors. METHODS: A prospective cohort study of twin pairs from 12 pediatric dermatology centers in the United States, Canada, Argentina, and Spain was conducted. Information regarding maternal pregnancy history, family history of vascular birthmarks, zygosity (if known), and pregnancy-related information was collected. Information regarding twins (N = 202 sets) included birthweight, gestational age (GA), presence or absence of IHs, numbers and subtypes of IHs, presence of other birthmarks, and other medical morbidities. RESULTS: Two hundred two sets of twins were enrolled. Concordance for IH was present in 37% of twin pairs. Concordance for IH was inversely related to gestational age (GA), present in 42% of GA of 32 weeks or less, 36% of GA of 33 to 36 weeks, and 32% of GA of 37 weeks or more. Twins of GA of 34 weeks or less were more than two and a half times as likely to be concordant as those of GA of 35 weeks or more (odds ratio (OR) = 2.66, 95% confidence interval (CI) = 1.42-4.99; p < 0.01). In discordant twins, lower birthweight conferred a high risk of IH; of the 64 sets of twins with 10% or greater difference in weight, the smaller twin had IH in 62.5% (n = 40) of cases, versus 37.5% (n = 24) of cases in which the higher-birthweight twin was affected. Zygosity was reported in 188 twin sets (93%). Of these, 78% were dizygotic and 22% monozygotic. There was no statistically significant difference in rates of concordance between monozygotic twins (43%, 18/42) and dizygotic twins (36%, 52/146) (p = 0.50). In multivariate analysis comparing monozygotic and dizygotic twins, adjusting for effects of birthweight and sex, the likelihood of concordance for monozygotic was not appreciably higher than that for dizygotic twins (OR = 1.14, 95% CI = 0.52-2.49). Female sex also influenced concordance, confirming the effects of female sex on IH risk. The female-to-male ratio was 1.7:1 in the entire cohort and 1.9:1 in those with IH. Of the 61 concordant twin sets with known sex of both twins, 41% were female/female, 43% were female/male, and 16% were male/male. CONCLUSIONS: These findings suggest that the origin of IHs is multifactorial and that predisposing factors such as birthweight, sex, and GA may interact with one another such that a threshold is reached for clinical expression.


Assuntos
Doenças em Gêmeos , Hemangioma/genética , Peso ao Nascer , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos , Fatores Sexuais
10.
Pediatrics ; 136(4): e1060-104, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26416931

RESUMO

Infantile hemangiomas (IHs) are the most common tumors of childhood. Unlike other tumors, they have the unique ability to involute after proliferation, often leading primary care providers to assume they will resolve without intervention or consequence. Unfortunately, a subset of IHs rapidly develop complications, resulting in pain, functional impairment, or permanent disfigurement. As a result, the primary clinician has the task of determining which lesions require early consultation with a specialist. Although several recent reviews have been published, this clinical report is the first based on input from individuals representing the many specialties involved in the treatment of IH. Its purpose is to update the pediatric community regarding recent discoveries in IH pathogenesis, treatment, and clinical associations and to provide a basis for clinical decision-making in the management of IH.


Assuntos
Hemangioma , Neoplasias Cutâneas , Corticosteroides/uso terapêutico , Antagonistas Adrenérgicos beta/uso terapêutico , Pré-Escolar , Tomada de Decisão Clínica , Terapia Combinada , Procedimentos Cirúrgicos Dermatológicos , Progressão da Doença , Feminino , Hemangioma/complicações , Hemangioma/diagnóstico , Hemangioma/terapia , Humanos , Lactente , Terapia a Laser , Masculino , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia
11.
J Invest Dermatol ; 135(6): 1533-1539, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25615551

RESUMO

Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square <1.4) and demonstrated excellent internal consistency, with alpha ranging from 0.76 to 0.88. The final instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.


Assuntos
Hemangioma/diagnóstico , Índice de Gravidade de Doença , Algoritmos , Cuidadores , Dermatologia/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Modelos Estatísticos , Pais , Estudos Prospectivos , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Inquéritos e Questionários
12.
Pediatr Dermatol ; 31(6): 670-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25424207

RESUMO

There is controversy regarding precise definitions for Stevens-Johnson syndrome (SJS) and erythema multiforme (EM) major because of overlap in clinical presentations. SJS and EM major associated with Mycoplasma pneumoniae have been reported to occur in children, but Mycoplasma is more commonly reported with SJS. We sought to further characterize Mycoplasma-associated mucocutaneous disease. Through retrospective chart review over 10 years, six children hospitalized with a diagnosis of SJS who also tested positive for Mycoplasma infection were reviewed. Using documented physical examinations and photographs, diagnoses of SJS or EM major were retrospectively made based upon cutaneous lesional morphology employing the classification system proposed by Bastuji-Garin et al. The majority of patients were boys, with limited acral cutaneous lesions. All patients required prolonged hospitalization because of mucosal involvement and had good short-term outcomes. When the classification system was retrospectively applied, five of the six patients were reclassified with a diagnosis of EM major instead of SJS. Children with Mycoplasma-associated EM major and SJS in our small retrospective series appeared to have significant mucosal involvement but more limited cutaneous involvement with lesional morphology, which is more characteristic of EM major.


Assuntos
Eritema Multiforme/classificação , Eritema Multiforme/microbiologia , Mycoplasma pneumoniae/isolamento & purificação , Síndrome de Stevens-Johnson/classificação , Síndrome de Stevens-Johnson/microbiologia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Estudos Retrospectivos
14.
Arch Dermatol ; 148(2): 197-202, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22351819

RESUMO

OBJECTIVES: To develop instruments that measure the severity of infantile hemangiomas (Hemangioma Severity Scale [HSS]) and the complications of infantile hemangiomas for longitudinal use (Hemangioma Dynamic Complication Scale [HDCS]). DESIGN: Instrument development and reliability study. SETTING: Academic research. PARTICIPANTS: The HSS and the HDCS were developed through the collaborative effort of members of the Hemangioma Investigator Group Research Core, an expert multi-institutional research group. After development of the scales, 13 pediatric dermatologists used the HSS to score 20 different hemangiomas. In addition, 12 pediatric dermatologists used the HDCS to score hemangioma-related complications for 24 clinical scenarios. Interrater and intrarater reliability was measured for both scales. MAIN OUTCOME MEASURES: Interrater and intrarater reliability. RESULTS: For the HSS, interrater reliability and intrarater reliability exceeded 99%. Similarly, the HDCS had a high rate of interrater agreement; for individual items, agreement among raters was 67% to 100%, with most clinical scenarios demonstrating greater than 90% agreement. Intrarater reliability was excellent for all individual items of the HDCS. CONCLUSION: The HSS and the HDCS are reliable scales that can be used to measure the severity of infantile hemangiomas, including the severity of complications for longitudinal use.


Assuntos
Hemangioma/complicações , Hemangioma/patologia , Índice de Gravidade de Doença , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , Dermatologia , Humanos , Lactente , Variações Dependentes do Observador , Reprodutibilidade dos Testes
16.
Pediatr Radiol ; 42(3): 315-20, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22138893

RESUMO

BACKGROUND: Spinal dysraphism is suspected in patients with midline abnormalities, especially in those with lumbosacral cutaneous markings. A recent prospective study demonstrated that isolated cutaneous infantile hemangiomas (IH) of the lumbosacral region have one of the highest risks (relative risk of 438) of associated spinal dysraphism. OBJECTIVE: The specific types of dysraphism and radiological findings associated with cutaneous IH of the lumbosacral region have not been described in detail, to the best of our knowledge. The aim of this multicenter study is to retrospectively classify types of spinal anomalies associated with the cutaneous lumbosacral IH. MATERIALS AND METHODS: The radiological images of 20 cases of lumbosacral infantile hemangioma associated with spinal dysraphism were reviewed. RESULTS: Tethered cord was found in 60% of the 20 cases, spinal lipoma was present in 50% and 45% had intraspinal hemangiomas. Sinus tract was found in 40% of the children. CONCLUSION: A range of spinal anomalies is associated with cutaneous lumbosacral infantile hemangiomas and MRI can be used to characterize these abnormalities.


Assuntos
Anormalidades Múltiplas/diagnóstico , Hemangioma/congênito , Hemangioma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/diagnóstico , Disrafismo Espinal/diagnóstico , Feminino , Humanos , Recém-Nascido , Região Lombossacral/patologia , Masculino
17.
Pediatr Dermatol ; 28(3): 245-53, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21517952

RESUMO

Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.


Assuntos
Hemangioma/epidemiologia , Neoplasias Hepáticas/epidemiologia , Neoplasias Cutâneas/epidemiologia , Feminino , Hemangioma/terapia , Humanos , Recém-Nascido , Neoplasias Hepáticas/terapia , Masculino , Programas de Rastreamento , Estudos Prospectivos , Fatores de Risco , Neoplasias Cutâneas/terapia
18.
J Pediatr ; 157(5): 789-94, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20828712

RESUMO

OBJECTIVE: To prospectively evaluate a cohort of patients with infantile hemangioma in the midline lumbosacral region for spinal anomalies to determine the positive predictive value of infantile hemangioma for occult spinal anomalies and to make evidence-based recommendations for screening. STUDY DESIGN: A multicenter prospective cohort study was performed at 9 Hemangioma Investigator Group sites. RESULTS: Intraspinal abnormalities were detected in 21 of 41 study participants with a lumbosacral infantile hemangioma who underwent a magnetic resonance imaging evaluation. The relative risk for all patients with lumbosacral infantile hemangiomas for spinal anomalies was 640 (95% confidence interval [CI], 404-954), and the positive predictive value of infantile hemangioma for spinal dysraphism was 51.2%. Ulceration of the hemangioma was associated with a higher risk of having spinal anomalies. The presence of additional cutaneous anomalies also was associated with a higher likelihood of finding spinal anomalies; however, 35% of the infants with isolated lumbosacral infantile hemangiomas had spinal anomalies, with a relative risk of 438 (95% CI, 188-846). The sensitivity for ultrasound scanning to detect spinal anomalies in this high-risk group was poor at 50% (95% CI, 18.7%-81.3%), with a specificity rate of 77.8% (95% CI, 40%-97.2%). CONCLUSIONS: Infants and children with midline lumbosacral infantile hemangiomas are at increased risk for spinal anomalies. Screening magnetic resonance imaging is recommended for children with these lesions.


Assuntos
Hemangioma/complicações , Neoplasias Cutâneas/complicações , Coluna Vertebral/anormalidades , Pré-Escolar , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Região Lombossacral , Masculino , Estudos Prospectivos
19.
Science ; 330(6000): 94-7, 2010 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-20798280

RESUMO

Somatic loss of wild-type alleles can produce disease traits such as neoplasia. Conversely, somatic loss of disease-causing mutations can revert phenotypes; however, these events are infrequently observed. Here we show that ichthyosis with confetti, a severe, sporadic skin disease in humans, is associated with thousands of revertant clones of normal skin that arise from loss of heterozygosity on chromosome 17q via mitotic recombination. This allowed us to map and identify disease-causing mutations in the gene encoding keratin 10 (KRT10); all result in frameshifts into the same alternative reading frame, producing an arginine-rich C-terminal peptide that redirects keratin 10 from the cytokeratin filament network to the nucleolus. The high frequency of somatic reversion in ichthyosis with confetti suggests that revertant stem cell clones are under strong positive selection and/or that the rate of mitotic recombination is elevated in individuals with this disorder.


Assuntos
Cromossomos Humanos Par 17/genética , Mutação da Fase de Leitura , Eritrodermia Ictiosiforme Congênita/genética , Queratina-10/genética , Mitose , Recombinação Genética , Sequência de Aminoácidos , Nucléolo Celular/metabolismo , Mapeamento Cromossômico , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/patologia , Filamentos Intermediários/metabolismo , Filamentos Intermediários/ultraestrutura , Queratina-10/química , Queratina-10/metabolismo , Queratinas/metabolismo , Perda de Heterozigosidade , Masculino , Dados de Sequência Molecular , Mosaicismo , Proteínas Mutantes/química , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Seleção Genética , Pele/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...