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 , CefaleiaRESUMO
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 , HumanosRESUMO
BACKGROUND/OBJECTIVES: The COVID-19 pandemic prompted a rapid expansion in the use of telemedicine. This study aimed to assess the experiences of hemangioma specialists utilizing telemedicine during the COVID-19 pandemic to evaluate and manage infantile hemangiomas (IH), including perceived effectiveness of different modalities and barriers to care delivery. METHODS: Multicenter cross-sectional study asking providers to describe their experiences using telemedicine for initial evaluation of IH from March to September 2020. RESULTS: The study included 281 patients from 15 medical centers internationally. Median time from referral to evaluation was 17 days. Median physician confidence in performing evaluations via telemedicine was 95.0 (IQR 90.0-100.0). Most evaluations were performed via video communication with photographs or audio communication with photographs; when not initially available, photographs were requested in 51.4%. Providers preferred follow-up modalities that included photographs. CONCLUSIONS: Physicians with extensive expertise in managing IH are confident in their abilities to assess and manage IH via telemedicine including initiating treatment in patients without risk factors for beta-blocker therapy. There was a preference for hybrid modalities that included photographs. The data suggest that telemedicine can be effective for managing IH and may decrease wait times and improve specialist reach to underserved areas.
Assuntos
COVID-19 , Hemangioma Capilar , Hemangioma , Telemedicina , COVID-19/epidemiologia , Estudos Transversais , Hemangioma/diagnóstico , Hemangioma/terapia , Humanos , PandemiasRESUMO
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 RetrospectivosRESUMO
This case describes a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with diffuse eczematous dermatitis and severe, intractable pruritus. Despite a bone marrow transplant and immunosuppressive therapy, his skin findings and pruritus persisted. Off-label dupilumab provided significant improvement and almost complete clearance of the dermatitis and pruritus. This is the first known report of dupilumab being used in a patient with IPEX syndrome.
Assuntos
Dermatite Atópica , Eczema , Doenças Genéticas Ligadas ao Cromossomo X , Anticorpos Monoclonais Humanizados , Dermatite Atópica/tratamento farmacológico , Dermatite Atópica/genética , Diabetes Mellitus Tipo 1/congênito , Diarreia , Eczema/tratamento farmacológico , Eczema/genética , Fatores de Transcrição Forkhead/genética , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Doenças do Sistema Imunitário/congênito , Mutação , Prurido/tratamento farmacológico , Prurido/genéticaRESUMO
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/patologiaAssuntos
Centros Médicos Acadêmicos , Dermatologia , Encaminhamento e Consulta , Humanos , Estudos Prospectivos , Centros Médicos Acadêmicos/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Criança , Feminino , Masculino , Pré-Escolar , Dermatopatias/diagnóstico , Dermatopatias/terapia , Lactente , Adolescente , PediatriaRESUMO
Studies have suggested there is a shortage of pediatric dermatologists in the United States, but the workforce has not been well defined. The Society for Pediatric Dermatology (SPD) Workforce Committee sought to characterize the US pediatric dermatology workforce with a nine-question survey, sent to all 484 US SPD members in December 2016. The response rate was 30%. Most pediatric dermatologists were practicing in major metropolitan markets, seeing an average of 80 patients a week with an average 6-week wait time. These findings indicate that geographic maldistribution and long wait times for new patient appointments remain substantial hurdles for adequate access to subspecialty pediatric dermatology care.
Assuntos
Dermatologistas/provisão & distribuição , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Mão de Obra em Saúde/estatística & dados numéricos , Agendamento de Consultas , Criança , Dermatologia/estatística & dados numéricos , Humanos , Sociedades Médicas , Inquéritos e Questionários , Estados Unidos , Listas de EsperaRESUMO
BACKGROUND/OBJECTIVES: Infantile hemangiomas are common vascular tumors. Identifying sites of predilection may provide insight into pathogenesis. Previous studies have suggested a predilection for the boundary of facial metameres. The objective was to observe patterns of localized hemangiomas on the face and scalp, determine sites of predilection, and place these patterns in a developmental context. METHODS: A retrospective review of photographic archives at 10 Hemangioma Investigator Group pediatric dermatology centers identified localized infantile hemangiomas of the face and scalp. Heat map software was used to identify areas of predilection. Dot maps were used to assess frequency, and densities of infantile hemangiomas were compared between facial units using t-testing. The scalp was divided into quintiles to assess relative frequencies. RESULTS: Four thousand one hundred fifty-three focal face and scalp infantile hemangiomas were mapped, of which 2962 (71%) were mapped to a frontal facial template. On the face, 73.8% (2186/2962) of hemangiomas occurred along the midline axis or perpendicularly across the ocular axis in a cross-shaped area of predilection intersecting at the glabella. Scalp hemangiomas show a predilection for the midline, with 149/295 (50.5%) noted on the top of the scalp at the midline (P < 0.001). Localized hemangiomas do not demonstrate a preferential laterality. CONCLUSION: The distribution of localized infantile hemangiomas of the face and scalp is not random. There is preferential involvement of the midline face and scalp and the ocular axis. The regions corresponding to the boundaries between the embryonic facial segments, including the maxillary and mandibular metameres, are not accentuated in the distribution of infantile hemangiomas.
Assuntos
Neoplasias Faciais/patologia , Hemangioma/patologia , Neoplasias Cutâneas/patologia , Face/patologia , Humanos , Lactente , Estudos Retrospectivos , Couro Cabeludo/patologia , Pele/patologiaRESUMO
Atopic dermatitis is the most common chronic skin disease, and it primarily affects children. Although atopic dermatitis (AD) has the highest effect on burden of skin disease, no high-level studies have defined optimal therapy for severe disease. Corticosteroids have been used to treat AD since the 1950s and remain the only systemic medication with Food and Drug Administration approval for this indication in children, despite published guidelines of care that recommend against this option. Several clinical trials with level 1 evidence have supported the use of topical treatments for mild to moderate atopic dermatitis in adults and children, but these trials have had little consistency in protocol design. Consensus recommendations will help standardize clinical development and trial design for children. The Food and Drug Administration issues guidance documents for industry as a source for "the Agency's current thinking on a particular subject." Although they are nonbinding, industry considers these documents to be the standard for clinical development and trial design. Our consensus group is the first to specifically address clinical trial design in this population. We developed a draft guidance document for industry, Developing Drugs for Treatment of Atopic Dermatitis in Children (≥3 months to <18 years of age). This draft guidance has been submitted to the Food and Drug Administration based on a provision in the Federal Register (Good Guidance Practices).
Assuntos
Ensaios Clínicos como Assunto/normas , Dermatite Atópica/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Indústria Farmacêutica/normas , Guias como Assunto , Adolescente , Criança , Pré-Escolar , Fármacos Dermatológicos/efeitos adversos , Fármacos Dermatológicos/normas , Humanos , Lactente , Estados Unidos , United States Food and Drug AdministrationRESUMO
Pemphigus foliaceus (PF) is an uncommon immunobullous disease in children. Other autoimmune diseases have rarely been reported in children with PF. We report the case of an adolescent girl who presented with concurrent PF and Graves' disease.
Assuntos
Doença de Graves/complicações , Doença de Graves/patologia , Pênfigo/complicações , Pênfigo/patologia , Adolescente , Feminino , HumanosRESUMO
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.
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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 RetrospectivosRESUMO
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 RetrospectivosRESUMO
Radiation recall dermatitis (RRD) is an uncommon reaction typically triggered by the use of chemotherapeutic agents in the months after treatment with radiation therapy. It usually presents as dermatitis in the irradiated field with prominent intertriginous involvement, and because internal involvement occurs in up to one-third of cases, early recognition is important. RRD has rarely been reported in the pediatric literature. We report the case of a 15-month-old boy with RRD to dactinomycin.
Assuntos
Antibióticos Antineoplásicos/efeitos adversos , Dactinomicina/efeitos adversos , Radiodermite/diagnóstico , Humanos , Lactente , Neoplasias Renais/tratamento farmacológico , Neoplasias Renais/radioterapia , Masculino , Radiodermite/etiologia , Tumor Rabdoide/tratamento farmacológico , Tumor Rabdoide/radioterapiaRESUMO
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 SexuaisRESUMO
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 RetrospectivosRESUMO
OBJECTIVES: The objectives of the study were to determine the rate of hepatic hemangiomas in infants with cutaneous infantile hemangiomas that were screened by abdominal ultrasound; identify morphological subtypes and number of cutaneous infantile hemangiomas that are likely to suggest the presence of hepatic hemangiomas; and identify clinical history, physical findings, or laboratory abnormalities that may predict hepatic involvement. METHODS: A retrospective study was conducted between 2000 and 2007 on 37 infants with cutaneous hemangiomas who underwent abdominal ultrasound for hepatic hemangiomas. Infants were classified into subgroups based upon the morphology of their cutaneous hemangioma(s). Data collected included clinical history, physical examination findings, sonographic findings, laboratory results, treatment(s) rendered, and clinical outcome. RESULTS: Eight of 37 infants (22%) had hepatic hemangiomas. Infants with miliary (30-100 pinpoint/small cutaneous hemangiomas), six or more small cutaneous hemangiomas, and one large with one or more small cutaneous hemangiomas were more likely to have concurrent hepatic hemangiomas. No other clinical findings were associated with hepatic involvement. CONCLUSIONS: Similar to other studies, our study found clinically asymptomatic hepatic hemangiomas in 22% of infants with multiple cutaneous infantile hemangiomas. No clinical findings studied were predictive of hepatic involvement.