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1.
J Pediatr ; 267: 113907, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38218370

RESUMEN

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.


Asunto(s)
Coartación Aórtica , Anomalías del Ojo , Síndromes Neurocutáneos , Humanos , Lactante , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Síndromes Neurocutáneos/complicaciones , Anomalías del Ojo/complicaciones , Coartación Aórtica/complicaciones , Calidad de Vida , Estudios Transversales , Cefalea
2.
J Am Acad Dermatol ; 2024 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-38604489

RESUMEN

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and postneonatal period. METHODS: A modified Delphi method (expert-based input via 2 surveys and a final review) was implemented. Available guidelines from EB Clinical Research Consortium centers were analyzed to determine areas of focus and formulate statements to be voted on by EB Clinical Research Consortium members, experienced EB nurses, and select family members. Study participants evaluated statements using a Likert scale: statements with at least 70% agreement were accepted; statements with 30% or more disagreement were rejected. RESULTS: Ten areas of focus were identified. Delphi participants included 15 dermatologists, 8 nurses, and 6 nonhealth care caregivers. Consensus was established on 103/119 neonatal statements and 105/122 postneonatal statements; no statements were rejected. Most recommendations applied to both age groups. LIMITATIONS: Recommendations may require adjustment based on individual patient's clinical context. CONCLUSION: Using the Delphi method, a consensus-derived resource for hospital-based health care professionals who manage patients with EB has been developed to improve the quality of inpatient care.

3.
Dev Med Child Neurol ; 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38597798

RESUMEN

AIM: To describe the rates of stroke and craniocervical vasculopathy progression in children with posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACE) syndrome. METHOD: A single-center, retrospective natural history study of children with PHACE syndrome. Clinical and sequential neuroimaging data were reviewed to study the characteristics and progression of vasculopathy and calculate the rates of arterial ischemic stroke (AIS) and transient ischemic stroke (TIA). Vasculopathy progression was defined as worsening or new vascular findings on follow-up magnetic resonance angiography. RESULTS: Thirty-four children with cerebrovascular abnormalities at the PHACE syndrome diagnosis were studied (age range = 2 to 18 years, 85% females). Median age at the initial diagnosis was 5.5 months (interquartile range = 1-52 months); median age at the last follow-up was 8 years 6 months (range = 2-18 years). Overall, 10 (29%) patients had radiological progression of their vasculopathy, with a cumulative progression-free rate of 73% (95% confidence interval [CI] = 0.57-0.89), and a cumulative TIA-free and AIS-free rate of 87% (95% CI = 0.745-0.99). Vasculopathy was continuously progressive in six patients (18%) at the last follow-up. Three patients (9%) had TIA and all had progressive vasculopathy. One patient had presumed perinatal AIS at the initial PHACE diagnosis, while no other patient experienced an AIS during the follow-up. INTERPRETATION: In children with PHACE syndrome, craniocervical vasculopathy is non-progressive and asymptomatic in the majority of cases. The risk of ischemic stroke in these children is very low. Larger and prospective studies are necessary to confirm these findings.

4.
Curr Opin Pediatr ; 35(4): 452-459, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37335275

RESUMEN

PURPOSE OF REVIEW: This review focuses on the emerging roles of nutrition, food allergies, and gut dysbiosis, and their influence on pediatric skin conditions such as psoriasis, hidradenitis suppurativa, and alopecia areata. As the prevalence of these conditions increases, understanding the underlying mechanisms and potential therapeutic targets is crucial for clinical practice and research. RECENT FINDINGS: The review covers 32 recent articles that highlight the significance of the gut microbiome, nutrition, and gut dysbiosis in the pathogenesis and progression of inflammatory and immune-related pediatric skin conditions. The data suggest that food allergies and gut dysbiosis play a crucial role in disease pathogenesis. SUMMARY: This review emphasizes the need for larger-scale studies to determine the effectiveness of dietary changes in preventing or treating inflammatory and immune-related skin conditions. Clinicians must maintain a balanced approach when implementing dietary changes in children with skin diseases like atopic dermatitis to avoid potential nutritional deficiencies and growth impairments. Further research into the complex interplay between environmental and genetic factors is warranted to develop tailored therapeutic strategies for these skin conditions in children.


Asunto(s)
Dermatitis Atópica , Hipersensibilidad a los Alimentos , Hidradenitis Supurativa , Psoriasis , Humanos , Niño , Disbiosis/complicaciones , Dermatitis Atópica/etiología , Dermatitis Atópica/terapia , Piel
5.
J Am Acad Dermatol ; 88(2): 414-420, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36404484

RESUMEN

BACKGROUND: Ulceration is an important complication in infantile hemangiomas (IHs). Prior to the use of ß-blockers, the estimated incidence of this complication in a referral population was between 15% and 30%. The incidence and factors associated with ulceration have not been systematically studied since the emergence of ß-blocker therapy. OBJECTIVE: Examine the incidence and clinical predictors for ulceration in IHs. METHODS: Retrospective study at tertiary referral centers. RESULTS: Compared with a previous large pre-propranolol cohort study, ulceration occurred at a significantly lower incidence of 11.4%. Clinical factors associated with ulceration included partial segmental morphology, location in the diaper area, and size greater than 5 cm. Higher risk of ulceration in Black patients was observed, suggesting barriers to care including delayed diagnosis and referral to specialty care. LIMITATIONS: Retrospective design at tertiary referral centers. CONCLUSION: Compared with reports before the use of ß-blockers became widespread, the incidence of ulceration in IHs has decreased. However, it continues to be a relatively frequent complication of IH.


Asunto(s)
Hemangioma Capilar , Neoplasias Cutáneas , Humanos , Lactante , Estudios Retrospectivos , Estudios de Cohortes , Incidencia , Hemangioma Capilar/complicaciones , Hemangioma Capilar/epidemiología , Hemangioma Capilar/tratamiento farmacológico , Antagonistas Adrenérgicos beta/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico
6.
J Am Acad Dermatol ; 89(5): 1015-1021, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37451624

RESUMEN

BACKGROUND: Infantile hemangiomas (IHs) of the anogenital region remain poorly characterized. OBJECTIVE: To examine the distribution, ulceration rate, and associated congenital anomalies of anogenital IHs. METHODS: Retrospective study at 8 tertiary referral centers. RESULTS: A total of 435 infants with an IH of the anogenital region were enrolled (of which, 319 [73%] were girls). Congenital anomalies were present in 6.4% (n = 28) of infants with an anogenital IH. Segmental or partial segmental anogenital IHs ulcerated in 72% (n = 99 of 138) of infants, whereas 45% (n = 133 of 297) of focal anogenital IHs experienced ulceration (P < .001). In a multivariable logistic regression analysis, segmental or partial segmental morphology (adjusted odds ratio [aOR], 2.70; 95% CI, 1.60-4.64), mixed type (aOR, 3.44; 95% CI, 2.01-6.07), and perianal (aOR, 3.01; 95% CI, 1.53-6.12) and buttocks location (aOR, 2.08; 95% CI, 1.17-3.76) had increased odds of ulceration. Segmental or partial segmental IHs of the genitalia were confined to distinct anatomic territories and were predominantly distributed unilaterally, with a linear demarcation at the perineal raphe. LIMITATIONS: Possible selection bias, given recruitment at tertiary referral centers. CONCLUSION: This study improves our understanding of high-risk features of anogenital IHs and demonstrates that genital segmental or partial segmental IHs develop within distinct anatomic territories.

7.
Pediatr Dermatol ; 40(4): 710-712, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36655593

RESUMEN

Congenital ichthyosis is a genodermatosis characterized by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant comorbidities and associated mortality, with most complications resulting from impaired barrier function. Early recognition can significantly alter the clinical course of this rare disease. Here we present a neonate with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (ILVASC), a rare inherited disease, to highlight how an interdisciplinary approach led to prompt assessment, confirmation of a genetic diagnosis and management of potential complications.


Asunto(s)
Ictiosis Lamelar , Ictiosis , Trastornos Leucocíticos , Recién Nacido , Humanos , Alopecia/genética , Ictiosis/diagnóstico , Ictiosis/genética , Trastornos Leucocíticos/genética , Síndrome , Diagnóstico Precoz
8.
Pediatr Dermatol ; 40(2): 258-260, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36573475

RESUMEN

There are little published data on the transition of care in EB. We conducted a survey study recruiting EB patients from the Dystrophic EB Research Association (debra) website and centers caring for high numbers of EB patients in the United States and internationally from Sept 17, 2019 to Nov 3, 2021. The majority of participants had not discussed the transition of care with their healthcare providers, nor the healthcare needs to be required as an adult. Ongoing pediatric subspecialty care was reported by 12% of adults, most commonly in pediatric dermatology. Identified barriers to transition included the perceived lack of adult providers' knowledge about EB patient healthcare needs. The results suggest the need for transition guidelines, early discussions with families about transition, and practical information for the adult providers accepting care.


Asunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa , Niño , Adulto , Humanos , Transferencia de Pacientes , Epidermólisis Ampollosa/terapia , Encuestas y Cuestionarios , Personal de Salud
9.
Pediatr Dermatol ; 40(6): 990-995, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37526023

RESUMEN

Mucocutaneous eruptions are associated with numerous infectious processes and can present as erythema multiforme (EM), reactive infectious mucocutaneous eruption (RIME), Stevens Johnson syndrome (SJS), or toxic epidermal necrolysis (TEN). Limited reports have detailed the association of these eruptions with SARS-CoV-2 infection. We present a series of eight cases of severe mucocutaneous blistering eruptions associated with SARS-CoV-2 infection. A retrospective case series was performed at six tertiary medical centers from March 1, 2020 to August 1, 2022. Inclusion criteria were met with a clinical diagnosis of EM, RIME, SJS, or TEN and a positive SARS-CoV-2 test (rapid antigen or polymerase chain reaction) less than 4 weeks prior to onset of dermatologic manifestation. Data was collected at time of each patient encounter. Eight patients met criteria with six pediatric patients (<18 years of age) having a median age of 15 years and two adult patients (>18 years of age) having a median age of 36 years. Patients were found to have a clinical diagnosis of RIME in 85.7% of cases. Oral mucosal involvement was the most common clinical finding (100%), followed by ocular (50.0%), urogenital (50.0%), and skin (37.5%) involvement. Evaluation did not reveal any additional infectious triggers in four patients. Evidence of possible concurrent or previous infectious triggers were identified in four patients. This case series highlights the development of severe mucocutaneous eruptions in association with COVID-19 infection, as well as the potential contributing role of concurrent or prior infections.


Asunto(s)
COVID-19 , Eritema Multiforme , Exantema , Síndrome de Stevens-Johnson , Adulto , Humanos , Niño , Adolescente , Estudios Retrospectivos , COVID-19/complicaciones , COVID-19/diagnóstico , SARS-CoV-2 , Síndrome de Stevens-Johnson/diagnóstico , Eritema Multiforme/diagnóstico
10.
Pediatr Dermatol ; 40(5): 789-808, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37316462

RESUMEN

Methotrexate (MTX) is a readily accessible drug, first used in 1948 and employed for a wide variety of indications since then. However, despite widespread off-label use, FDA labeling does not include approved indications for the use of MTX for many inflammatory skin diseases in pediatric patients, including morphea, psoriasis, atopic dermatitis, and alopecia areata, among others. Without published treatment guidelines, some clinicians may be hesitant to use MTX off-label, or uncomfortable prescribing MTX in this population. To address this unmet need, an expert consensus committee was convened to develop evidence- and consensus-based guidelines for use of MTX to treat pediatric inflammatory skin disease. Clinicians with experience and expertise in clinical research, drug development, and treating inflammatory skin disease in pediatric patients with MTX were recruited. Five committees were created based on major topic areas: (1) indications and contraindications, (2) dosing, (3) interactions with immunizations and medications, (4) adverse effects (potential for and management of), and (5) monitoring needs. Pertinent questions were generated and addressed by the relevant committee. The entire group participated in a modified Delphi process to establish agreement on recommendations for each question. The committee developed 46 evidence- and consensus-based recommendations, each with >70% agreement among members, across all five topics. These are presented in tables and text, along with a discussion of supporting literature, and level of evidence. These evidence- and consensus-based recommendations will support safe and effective use of MTX for the underserved population of pediatric patients who may benefit from this valuable, time-honored medication.


Asunto(s)
Dermatitis Atópica , Psoriasis , Humanos , Niño , Metotrexato , Consenso , Psoriasis/tratamiento farmacológico , Dermatitis Atópica/tratamiento farmacológico
11.
J Cutan Med Surg ; 27(6): 621-627, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37823355

RESUMEN

INTRODUCTION: The need for pediatric dermatology services is increasing across Canada. In parallel, the complexity of treatment with novel targeted therapeutics has increased. Currently, there is no accredited and limited non-accredited fellowship training access to pediatric dermatology in Canada. HYPOTHESIS: Understanding the current state of pediatric dermatology training in Canada will provide insight into opportunities for strategic improvement. METHODS: A survey was distributed to 44 pediatric dermatology providers. In addition, a review of the burden of pediatric skin disease and education/training in Canada was performed. RESULTS: Thirty-four specialists responded to the survey (77% response rate). One third of current pediatric dermatology providers are over 50 years old and half of these (15%) plan to retire within the next 5 years. Half of respondents were dermatologists, 35% were pediatricians, and 11% were double boarded. Almost all respondents practiced in an academic setting (94%). Most had further fellowship training in pediatric dermatology (82.4%) but only 57% achieved this training in Canada, due to lack of accredited or non-accredited funded fellowship positions. CONCLUSION: There is a high and growing need for pediatric dermatology specialty care in a diverse range of settings. The current provider population and training programs are insufficient to meet current and future demands. We highlighted solutions to close this gap between supply and demand including increased double board certification in Pediatrics and Dermatology, a protected pediatric stream within existing Dermatology residency training programs and accredited fellowships in Pediatric Dermatology for both dermatologists and pediatricians.


Asunto(s)
Dermatología , Internado y Residencia , Humanos , Niño , Persona de Mediana Edad , Dermatología/educación , Canadá , Recursos Humanos , Encuestas y Cuestionarios
12.
Dermatol Online J ; 29(5)2023 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-38478639

RESUMEN

Pigmented epithelioid melanocytomas (PEM) are intermediate-grade melanocytic lesions with frequent lymph node involvement and rare metastases that tend to follow an indolent course with a favorable outcome. We report two unique cases of congenital PEM with PRKCA fusion transcripts: a multifocal PEM with an aggressive incompletely resectable scalp tumor and a solitary palmar PEM with newly reported ITGB5-PRKCA fusion. Through these case reports and a summary of previously reported cases, we outline the spectrum of disease of PEM and highlight the key clinical and histopathologic features associated with PEM with PRKCA fusion transcripts. We also discuss the treatment options and suggest that surgical excision without further adjuvant systemic treatment is reasonable first-line therapy given the favorable prognosis.


Asunto(s)
Nevo Azul , Neoplasias Cutáneas , Humanos , Nevo Azul/diagnóstico , Nevo Azul/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Melanocitos/patología
13.
J Am Acad Dermatol ; 86(5): 1063-1071, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34634382

RESUMEN

BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE: To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron microscopy (TEM), immunofluorescence mapping (IFM), and genetic analysis for EB. METHODS: A retrospective cohort included patients enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2004, to July 8, 2019. Tests concluding the same EB type (EB simplex, junctional EB, dominant dystrophic EB, and recessive dystrophic EB) were considered concordant; those concluding different EB types were considered discordant; and those with nonspecific/nondefinitive results were equivocal. RESULTS: A total of 970 diagnostic tests were conducted from 1984 to 2018 in 771 patients. Genetic analyses were performed chronologically later than IFM or TEM (P < .001). The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and the same for dominant dystrophic EB as compared with EB simplex. TEM results in 163 patients were equivocal (55%), concordant (42%), and discordant (3%). IFM results in 185 patients were equivocal (54%), concordant (42%), and discordant (4%). LIMITATIONS: Retrospective design. CONCLUSIONS: Diagnostic testing has shifted in favor of genetic analysis. TEM and IFM frequently offer equivocal findings when compared to the specificity afforded by genetic analysis.


Asunto(s)
Epidermólisis Ampollosa Distrófica , Epidermólisis Ampollosa Simple , Epidermólisis Ampollosa de la Unión , Epidermólisis Ampollosa , Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/genética , Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Simple/diagnóstico , Técnica del Anticuerpo Fluorescente , Humanos , América del Norte , Estudios Retrospectivos
14.
Pediatr Transplant ; 26(1): e14146, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34562053

RESUMEN

BACKGROUND: The most frequently reported malignancies after solid organ transplant are cutaneous, but data on the risk in pediatric populations varies across studies. OBJECTIVES: To perform a systematic review including reported features and outcomes of skin cancers in pediatric solid organ transplant recipients. METHODS: EMBASE and MEDLINE were systematically searched (Prospero CRD42020201659). RESULTS: The review summarizes data from 20 studies on 337 patients, with a median age ranging from 15.0 to 19.5 years as reported in 4 studies, who developed skin malignancies after pediatric solid organ transplantation. Median ages at transplant and skin cancer diagnosis ranged from 1.5 to 17.0 years and 15.3 to 33.5 years, respectively. Squamous cell carcinoma (SCC) was most commonly reported (218 cases), followed by basal cell carcinoma (BCC) (91 cases), melanoma (18 cases), and unspecified keratinocyte carcinomas (2 cases). The median latency period between transplantation and cancer diagnosis ranged from 2.2 to 21.0 years. Overall, 4 studies reported 17 cases of metastasis in total, and recurrence was reported in one case. Six deaths were reported in one study related to SCC and melanoma metastases. The incidence rate of skin cancer after pediatric transplantation per 100 person-years of follow-up was 2.1 based on 5 studies. CONCLUSION: The most frequent post-transplant malignancy in pediatric organ transplant recipients was SCC.


Asunto(s)
Carcinoma/etiología , Melanoma/etiología , Trasplante de Órganos , Complicaciones Posoperatorias , Neoplasias Cutáneas/etiología , Adolescente , Carcinoma/epidemiología , Niño , Preescolar , Humanos , Incidencia , Lactante , Melanoma/epidemiología , Complicaciones Posoperatorias/epidemiología , Neoplasias Cutáneas/epidemiología
15.
Pediatr Radiol ; 52(2): 249-261, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34984511

RESUMEN

Vascular anomalies are classified as vascular tumors or vascular malformations according to their cellular features and biological behavior. Detailed history and clinical assessment allow for the proper clinical diagnosis of most vascular anomalies and guide the choice of imaging to evaluate them. This article discusses the general information needed from a clinical history and physical exam to formulate a diagnosis of vascular anomaly. Then, the authors review the clinical findings from the most common vascular tumors and vascular malformations.


Asunto(s)
Malformaciones Vasculares , Humanos , Malformaciones Vasculares/diagnóstico por imagen
16.
Pediatr Dermatol ; 39(5): 734-736, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35644875

RESUMEN

Data on skin manifestations associated with pediatric obesity are limited. We conducted a prospective study to evaluate the association of pediatric obesity with skin dermatoses and dermatologic quality of life. Our findings suggest that ongoing monitoring of skin problems is recommended for children with obesity.


Asunto(s)
Obesidad Infantil , Enfermedades de la Piel , Niño , Humanos , Obesidad Infantil/complicaciones , Obesidad Infantil/epidemiología , Estudios Prospectivos , Calidad de Vida , Piel , Enfermedades de la Piel/complicaciones , Enfermedades de la Piel/etiología
17.
Pediatr Dermatol ; 39(2): 205-210, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35178768

RESUMEN

BACKGROUND/OBJECTIVES: Café-au-lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine the role of an established CALMs screening clinic in diagnosing CALMs-related disorders. METHOD: We retrospectively reviewed patients seen between July 2012 and January 2019 in a CALMs screening clinic at The Hospital for Sick Children, a tertiary pediatric hospital in Toronto, Canada. Pediatric patients were referred because of multiple CALMs or suspected NF1. Selection was based on a chronological referral sample with no exclusions. A pediatric dermatologist examined all patients for CALMs and NF1 manifestations. Genetic testing was offered to confirm a clinical diagnosis or when clinical findings were inconclusive. RESULTS: Three hundred patients, of which 152 (50.7%) were female and had a mean age of 5.6 ± 4.8 years were seen during the study period. NF1 was diagnosed in 76 (25.3%) patients, mosaic NF1 in 38 (12.7%) patients, and 8 (2.7%) patients received other genetic diagnoses. One hundred and twelve (37.3%) patients were diagnosed with isolated CALMs not associated with an underlying genetic disease. Furthermore, 36 (12%) of our patients did not have CALMs. CONCLUSIONS: The CALMs screening clinic aided in the early diagnosis of genetic disorders such as NF1 and distinguished CALMs from other hyperpigmented lesions. We encourage the adoption of this clinic model in referral centers to streamline and optimize care of patients with presumptive diagnosis of CALMs.


Asunto(s)
Manchas Café con Leche , Neurofibromatosis 1 , Manchas Café con Leche/complicaciones , Niño , Preescolar , Femenino , Pruebas Genéticas , Hospitales , Humanos , Lactante , Masculino , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/genética , Estudios Retrospectivos
18.
J Am Acad Dermatol ; 84(6): 1554-1561, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32682884

RESUMEN

BACKGROUND: Treatment with BRAF inhibitors (BRAFI) and MEK inhibitors (MEKI) causes cutaneous reactions in children, limiting dosing or resulting in treatment cessation. The spectrum and severity of these reactions is not defined. OBJECTIVE: To determine the frequency and spectrum of cutaneous reactions in children receiving BRAFI and MEKI and their effects on continued therapy. METHODS: A multicenter, retrospective study was conducted at 11 clinical sites in the United States and Canada enrolling 99 children treated with BRAFI and/or MEKI for any indication from January 1, 2012, to January 1, 2018. RESULTS: All children in this study had a cutaneous reaction; most had multiple, with a mean per patient of 3.5 reactions on BRAFI, 3.7 on MEKI, and 3.4 on combination BRAFI/MEKI. Three patients discontinued treatment because of a cutaneous reaction. Treatment was altered in 27% of patients on BRAFI, 39.5% on MEKI, and 33% on combination therapy. The cutaneous reactions most likely to alter treatment were dermatitis, panniculitis, and keratosis pilaris-like reactions for BRAFI and dermatitis, acneiform eruptions, and paronychia for MEKI. CONCLUSIONS: Cutaneous reactions are common in children receiving BRAFI and MEKI, and many result in alterations or interruptions in oncologic therapy. Implementing preventative strategies at the start of therapy may minimize cutaneous reactions.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Erupciones por Medicamentos/epidemiología , Neoplasias/tratamiento farmacológico , Paroniquia/epidemiología , Inhibidores de Proteínas Quinasas/efectos adversos , Adolescente , Canadá/epidemiología , Niño , Preescolar , Erupciones por Medicamentos/diagnóstico , Erupciones por Medicamentos/etiología , Femenino , Humanos , Lactante , Masculino , Quinasas de Proteína Quinasa Activadas por Mitógenos/antagonistas & inhibidores , Paroniquia/inducido químicamente , Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores , Estudios Retrospectivos , Estados Unidos/epidemiología
19.
Pediatr Dermatol ; 38(1): 149-153, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33283348

RESUMEN

BACKGROUND: Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated, blistering skin disorder that mainly affects infants and children. There is limited literature regarding pediatric SSSS. The purpose of this study was to describe the epidemiology, clinical features, and management of pediatric SSSS. METHODS: Retrospective cohort study of pediatric patients with a clinical diagnosis of SSSS seen at the Hospital for Sick Children in Toronto, Ontario, Canada, from January 1994 to March 2016. RESULTS: We included 84 patients with a clinical diagnosis of SSSS; 49/84 (58%) were male. Mean age of diagnosis was 3.1 ± 2.4 years. All patients presented with erythema and exfoliation, while 64/84 (76%) presented with vesicles/ bullae. Skin tenderness was the most common symptom, present in 68/84 (81%) subjects. Staphylococcus aureus was more commonly isolated from periorificial cultures than from bullae. Mean hospitalization was 4.7 ± 2.3 days. No difference was found in admission duration between children receiving clindamycin and those that did not (3.6 ± 2.2 vs 3.9 ± 2.34 days, P = .63). Skin debridement was the only risk factor leading to more complications and prolonged hospitalization (P = .03). Severe complications were seen in 4 (5%) cases, and no fatalities were observed. CONCLUSIONS: Healthcare providers should be aware of SSSS and consider it in the differential diagnosis of infants and children with new onset erythema, exfoliation, and/or vesiculation. Suspected culprit pathogens were more often obtained from periorificial swabs; however, these isolates were not tested for exfoliative toxin to confirm causality. Antibiotic treatment should be guided by sensitivity testing. Addition of clindamycin as an anti-toxin agent had no effect on the duration of hospitalization, and this should be further investigated. Surgical debridement of the skin in patients with SSSS should be discouraged.


Asunto(s)
Síndrome Estafilocócico de la Piel Escaldada , Canadá , Niño , Preescolar , Clindamicina , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Síndrome Estafilocócico de la Piel Escaldada/diagnóstico , Síndrome Estafilocócico de la Piel Escaldada/tratamiento farmacológico , Síndrome Estafilocócico de la Piel Escaldada/epidemiología , Staphylococcus aureus
20.
Pediatr Dermatol ; 38(2): 364-370, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33742457

RESUMEN

BACKGROUND/OBJECTIVE: In spring 2020, high numbers of children presented with acral pernio-like skin rashes, concurrent with the coronavirus disease 2019 (COVID-19) pandemic. Understanding their clinical characteristics/ infection status may provide prognostic information and facilitate decisions about management. METHODS: A pediatric-specific dermatology registry was created by the Pediatric Dermatology COVID-19 Response Task Force of the Society for Pediatric Dermatology (SPD) and Pediatric Dermatology Research Alliance (PeDRA) and was managed by Children's Hospital of Philadelphia using REDCap. RESULTS: Data from 378 children 0-18 years entered into the registry between April 13 and July 17, 2020 were analyzed. Data were drawn from a standardized questionnaire completed by clinicians which asked for demographics, description of acral lesions, symptoms before and after acral changes, COVID-19 positive contacts, treatment, duration of skin changes, laboratory testing including SARS-CoV-2 PCR and antibody testing, as well as histopathology. 229 (60.6%) were male with mean age of 13.0 years (± 3.6 years). Six (1.6%) tested positive for SARS-CoV-2. Pedal lesions (often with pruritus and/or pain) were present in 96%. 30% (114/378) had COVID-19 symptoms during the 30 days prior to presentation. Most (69%) had no other symptoms and an uneventful course with complete recovery. CONCLUSIONS AND RELEVANCE: Children with acral pernio-like changes were healthy and all recovered with no short-term sequelae. We believe these acral changes are not just a temporal epiphenomenon of shelter in place during the spring months of the first wave of the COVID-19 pandemic and may be a late phase reaction that needs further study.


Asunto(s)
COVID-19 , Dermatología/tendencias , Pediatría/tendencias , Enfermedades de la Piel/epidemiología , Adolescente , Niño , Humanos , Masculino , Pandemias , Philadelphia , Sistema de Registros
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