RESUMO
A 3-week-old baby with hydrops fetalis, acute respiratory failure, and shock of unknown etiology developed a diffuse, pustular rash with worsening inflammatory markers and respiratory status despite antimicrobials. Whole exome sequencing revealed a de novo, frameshift mutation in the SAM9DL gene, leading to the diagnosis of SAMD9L-associated autoinflammatory disease.
Assuntos
Doenças Hereditárias Autoinflamatórias , Recém-Nascido , Humanos , Feminino , Síndrome , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/complicações , Hidropisia FetalRESUMO
There is limited information on the use of websites and social media platforms among dermatology patients. This survey study of 210 children with atopic dermatitis and their caretakers who attended dermatology clinic from 6/1/2020 through 5/1/2021 revealed that 83.8% had used online sources for information related to their condition. There was wide variation in the sources used and the participants' perceived trustworthiness of these. This study highlights the importance of physicians actively engaging with the online sources used by patients with atopic dermatitis and their caregivers during counseling in clinic.
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Dermatite Atópica , Criança , Humanos , Dermatite Atópica/terapia , Cuidadores/psicologia , Aconselhamento , Inquéritos e QuestionáriosRESUMO
Infantile hemangioma is the most common soft tissue tumor of infancy. Extensive organ involvement is rare. This report describes an infant with biopsy confirmed infantile hemangioma with diffuse organ involvement causing anemia and failure to thrive. Treatment was initiated with propranolol and led to initial improvement; however, course was complicated by several episodes of respiratory failure secondary to pulmonary edema. Propranolol therapy was interrupted for several months while patient was maintained on a diuretic regimen and treated with vincristine and high-dose corticosteroids. Patient was transitioned back to propranolol and is clinically thriving with objective improvement on radiographic imaging.
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Hemangioma Capilar , Hemangioma , Insuficiência Respiratória , Corticosteroides/uso terapêutico , Antagonistas Adrenérgicos beta , Diuréticos/uso terapêutico , Hemangioma/complicações , Hemangioma/tratamento farmacológico , Hemangioma Capilar/complicações , Hemangioma Capilar/tratamento farmacológico , Humanos , Lactente , Propranolol/uso terapêutico , Insuficiência Respiratória/etiologia , Canal Medular , Resultado do Tratamento , Vincristina/uso terapêuticoRESUMO
Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor that mainly occurs during infancy or early childhood. Approximately 70% of cases are complicated by Kasabach-Merritt phenomenon. Although osseous extension of the primary lesion is relatively common, primary bone involvement by KHE is rare. Given the paucity of literature on primary KHE of the bone, we report a case series of primary KHE of the bone treated at our institution and describe the clinical presentation, radiologic and pathologic findings, management and outcomes.
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Hemangioendotelioma , Síndrome de Kasabach-Merritt , Sarcoma de Kaposi , Neoplasias Vasculares , Adolescente , Criança , Pré-Escolar , Hemangioendotelioma/diagnóstico por imagem , Humanos , Sarcoma de Kaposi/diagnósticoRESUMO
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.
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Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Toxidermias/epidemiologia , Neoplasias/tratamento farmacológico , Paroniquia/epidemiologia , Inibidores de Proteínas Quinases/efeitos adversos , Adolescente , Canadá/epidemiologia , Criança , Pré-Escolar , Toxidermias/diagnóstico , Toxidermias/etiologia , Feminino , Humanos , Lactente , Masculino , Quinases de Proteína Quinase Ativadas por Mitógeno/antagonistas & inibidores , Paroniquia/induzido quimicamente , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Estudos Retrospectivos , Estados Unidos/epidemiologiaRESUMO
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive hematologic malignancy that can present with multiorgan involvement including the skin. While this entity accounts for 0.1% of all cutaneous lymphomas in adults, fewer than 90 pediatric cases have been described in the literature. We present three cases of pediatric BPDCN, highlighting the variable cutaneous and clinical presentation.
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Neoplasias Hematológicas , Neoplasias Cutâneas , Criança , Células Dendríticas , Humanos , PeleRESUMO
We present a complex case of a neonate, delivered urgently for hydrops fetalis, with a large vascular mass of the extremity, diagnosed postnatally as a congenital hemangioma. The patient suffered immediate cardiac compromise and severe coagulopathy atypical for the diagnosis and subsequently died from these complications. Treatment was imperative but challenging due to a lack of a standardized treatment approach and few historical reports of equally critically ill patients. In this report, we review potential medical and surgical interventions and discuss treatment considerations in similar, life-threatening cases of congenital hemangiomas.
Assuntos
Insuficiência Cardíaca , Hemangioma , Insuficiência Cardíaca/etiologia , Hemangioma/complicações , Hemangioma/diagnóstico , Humanos , Hidropisia Fetal , Recém-NascidoRESUMO
BACKGROUND: Deficiencies in the skills necessary to diagnose and manage patients with skin of color may contribute to health disparities. The Pediatric Dermatology Research Alliance Special Interest Group in Pediatric Skin of Color (PSOCG) convened to generate a curriculum of topics required for basic pediatric skin of color (PSOC) education for medical students and residents in dermatology to improve the quality of education in PSOC. METHODS: A survey was distributed to the PSOCG members to assess expert opinion regarding critical topics for inclusion in a basic PSOC syllabus. Video conference and two rounds of survey were used to rank topics for inclusion and to highlight the underlying need for inclusion. RESULTS: Group members composed of academic pediatric dermatologists with teaching responsibilities including skin of color topics for dermatology residents and medical students. Learning objectives were developed for an educational lecture on basic science, and clinical conditions affecting PSOC were grouped by age-infantile, pediatric, and adolescent skin conditions affecting the PSOC population were identified for inclusion with rank score based on specific parameters including greater frequency in skin of color, nuances in skin of color, and need for medical workup. CONCLUSIONS: Increased focus on PSOC education is needed to improve quality of care for children of color through enhanced knowledge. Inflammatory, genetic, and particularly primary pigmentary disorders should be the focus of a broad curriculum in pediatric skin of color education for medical trainees. Objectives should include improved diagnosis, treatment, and ability to educate patients and their families regarding the nature of their conditions.
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Dermatologia , Internato e Residência , Adolescente , Criança , Currículo , Dermatologia/educação , Humanos , Opinião Pública , Pigmentação da PeleRESUMO
PURPOSE OF REVIEW: Over the past decade many previously poorly understood vascular malformation disorders have been linked to somatic activating mutations in PIK3CA, which regulates cell survival and growth via activation of the mTOR1-AKT pathway. The goal of this article is to describe and provide an update on the clinical features, complications, and management strategies for the PIK3CA-related overgrowth spectrum (PROS). RECENT FINDINGS: PROS encompasses a heterogenous group of disorders with complications related to the tissues harboring the mutation. Vascular malformation syndromes, such as Klippel-Trenaunay syndrome and Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities, have an increased risk of thromboembolic complications, which is accentuated postprocedurally. Asymmetric overgrowth, particularly of limbs, results in a high rate of orthopedic complications. Hypoglycemia screening in the neonatal period and ongoing monitoring for growth failure is recommended in megalencephaly capillary malformation due to its association with multiple endocrinopathies. Recently, sirolimus, an mTOR1 inhibitor, has shown promise in vascular anomalies and now PROS. PIK3CA direct inhibitor, Alpelisib (BYL719), was recently trialed with significant clinical benefit. SUMMARY: As the pathogenesis of these conditions is better elucidated and targeted treatments are developed, recognizing the clinical features, comorbidities, and evolving therapeutic landscape across the PROS spectrum becomes more crucial for optimization of care.
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Anormalidades Múltiplas/genética , Classe I de Fosfatidilinositol 3-Quinases/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Anormalidades Musculoesqueléticas , Malformações Vasculares/genética , Anormalidades Múltiplas/diagnóstico , Biomarcadores/sangue , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Testes Genéticos , Humanos , Mosaicismo , Mutação , SíndromeRESUMO
BACKGROUND/OBJECTIVES: Malignant rhabdoid tumors (MRT) are highly aggressive tumors with a predilection for the kidney, central nervous system, and soft tissues that usually affect young children under three years of age. Primary presentation in the skin is rarely reported, and features of the cutaneous manifestations are not well described. We report six cases of metastatic MRT that first manifested with congenital nodules and masses in the skin. METHODS: Retrospective case series. RESULTS: The cutaneous presentation of MRT may be heterogeneous and can present with solitary or multifocal skin lesions. Congenital polypoidal and papillomatous plaques, including those with histologic features of neurovascular hamartoma, appear to be a unique presentation of MRT in the infant. CONCLUSIONS: Malignant rhabdoid tumor should be considered in the differential diagnosis of unusual skin tumors in neonates and infants.
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Papiloma , Tumor Rabdoide , Neoplasias Cutâneas , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Tumor Rabdoide/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver failure to our tertiary pediatric hospital. She was diagnosed with drug reaction with eosinophilia and systemic symptoms complicated by viremia and evidence of viral hepatitis on liver biopsy. We discuss the role of viral reactivation in drug reaction with eosinophilia and systemic symptoms and the relevance of antiviral therapy in management.
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Anticonvulsivantes/efeitos adversos , Antivirais/uso terapêutico , Infecções por Citomegalovirus/complicações , Síndrome de Hipersensibilidade a Medicamentos/diagnóstico , Anticonvulsivantes/uso terapêutico , Citomegalovirus/isolamento & purificação , Síndrome de Hipersensibilidade a Medicamentos/complicações , Síndrome de Hipersensibilidade a Medicamentos/terapia , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Metilprednisolona/uso terapêutico , Síndrome de Sturge-Weber/tratamento farmacológicoRESUMO
Sclerodermatous graft-versus-host disease is a subtype of cutaneous chronic graft-versus-host disease that is characterized by sclerosis of the skin and subcutaneous tissue, resulting in debilitating contractures, among other life-threatening complications. Children with sclerodermatous graft-versus-host disease are at high risk of developing nonmelanoma skin cancer because of several risk factors, including young age at transplantation, prolonged immunosuppression, and exposure to photosensitizing antimicrobial prophylaxis such as voriconazole. The immunosuppression required to treat sclerodermatous graft-versus-host disease makes effectively treating nonmelanoma skin cancer and sclerodermatous graft-versus-host disease in the same patient challenging. We describe a challenging case of a 6-year-old boy with a history of sclerodermatous graft-versus-host disease and voriconazole exposure presenting with squamous cell carcinoma in situ on the left temple and actinic keratoses on the scalp treated with topical chemotherapy agents.
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Antifúngicos/efeitos adversos , Carcinoma de Células Escamosas/etiologia , Doença Enxerto-Hospedeiro/complicações , Neoplasias Cutâneas/etiologia , Voriconazol/efeitos adversos , Administração Tópica , Antifúngicos/uso terapêutico , Transplante de Medula Óssea/efeitos adversos , Carcinoma de Células Escamosas/tratamento farmacológico , Carcinoma de Células Escamosas/cirurgia , Dermatite Fototóxica/complicações , Fluoruracila/administração & dosagem , Doença Enxerto-Hospedeiro/tratamento farmacológico , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Ceratose Actínica/tratamento farmacológico , Ceratose Actínica/etiologia , Masculino , Pele/patologia , Neoplasias Cutâneas/tratamento farmacológico , Voriconazol/uso terapêuticoAssuntos
Hospedeiro Imunocomprometido , Encaminhamento e Consulta/estatística & dados numéricos , Dermatopatias/diagnóstico , Pele/patologia , Adolescente , Biópsia/estatística & dados numéricos , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Pele/imunologia , Dermatopatias/imunologia , Dermatopatias/patologia , Dermatopatias Papuloescamosas , Adulto JovemRESUMO
In a subset of patients, infantile hemangiomas may be associated with structural anomalies. Structural anomalies may affect the upper body (PHACE Syndrome) or the lower body (LUMBAR Syndrome). Since their initial descriptions, improved understanding of these two syndromes has lead to recognition of a broader phenotypic spectrum than initially recognized. This paper aims to provide an updated review of the presentation, associated anomalies, and management of PHACE and LUMBAR syndromes, two well-characterized syndromes associated with IH.
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Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/terapia , Hemangioma/diagnóstico , Hemangioma/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Anormalidades Múltiplas/patologia , Neoplasias Faciais/complicações , Neoplasias Faciais/patologia , Hemangioma/complicações , Hemangioma/patologia , Humanos , Lactente , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , SíndromeAssuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Dermatopatias Infecciosas/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adolescente , Diagnóstico Diferencial , Virilha , Humanos , Masculino , Recidiva Local de Neoplasia/complicações , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/patologia , Obesidade/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologiaRESUMO
Importance: Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study. Objective: To examine the extent of stigma, dependence on disease visibility and severity, and association with mental health and quality of life (QOL) in chronic pediatric skin disease. Design, Setting, and Participants: A cross-sectional, single-visit study was conducted at 32 pediatric dermatology centers in the US and Canada from November 14, 2018, to November 17, 2021. Participants included patients aged 8 to 17 years with chronic skin disease and 1 parent. Main Outcomes and Measures: Using the Patient-Reported Outcomes Measurement Instrumentation System (PROMIS) Stigma-Skin, the extent of stigma with child-, caregiver-, and physician-assessed disease visibility (primary outcome) and severity was compared, as well as reduced QOL (assessed by Skindex-Teen), depression, anxiety, and poor peer relationships (PROMIS child and proxy tools) (secondary outcomes). Results: The study included 1671 children (57.9% female; mean [SD] age, 13.7 [2.7] years). A total of 56.4% participants had self-reported high disease visibility and 50.5% had moderate disease severity. Stigma scores significantly differed by level of physician-assessed and child/proxy-assessed disease visibility and severity. Among children with chronic skin disorders, predominantly acne, atopic dermatitis, alopecia areata, and vitiligo, only 27.0% had T scores less than 40 (minimal or no stigma) and 43.8% had at least moderate stigma (T score ≥45) compared with children with a range of chronic diseases. Stigma scores correlated strongly with reduced QOL (Spearman ρ = 0.73), depression (ρ = 0.61), anxiety (ρ = 0.54), and poor peer relationships (ρ = -0.49). Overall, 29.4% of parents were aware of bullying of their child, which was strongly associated with stigma (Cohen d = -0.79, with children who were not bullied experiencing lower levels of stigma). Girls reported more stigma than boys (Cohen d = 0.26). Children with hyperhidrosis and hidradenitis suppurativa were most likely to have increased depression and anxiety. Conclusions and Relevance: The findings of this study suggest that physician assessment of disease severity and visibility is insufficient to evaluate the disease impact in the patient/caregiver. Identifying stigmatization, including bullying, and tracking improvement through medical and psychosocial interventions may be a key role for practitioners.
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Saúde Mental , Qualidade de Vida , Dermatopatias , Estigma Social , Humanos , Feminino , Masculino , Criança , Adolescente , Estudos Transversais , Dermatopatias/psicologia , Doença Crônica , Canadá , Estereotipagem , Índice de Gravidade de Doença , Depressão/epidemiologia , Depressão/psicologia , Depressão/etiologia , Estados Unidos , Ansiedade/psicologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Medidas de Resultados Relatados pelo PacienteRESUMO
Atopic dermatitis (AD) is a common inflammatory condition of the skin that is usually seen in childhood, but can onset or persist into adulthood. The characteristic distribution and morphology based on age, chronic relapsing course, and pruritus comprise the clinical criteria used in the diagnosis of AD. However, the numerous morphologies ranging from acute, weeping erythematous papules to chronic lichenified plaques, can be simulated by multiple other conditions, including inflammatory, infectious, neoplastic, and photo-dermatoses. Recognition of the distinguishing features and clinical mimickers of atopic dermatitis is vital for an accurate and timely diagnosis, and initiation of proper treatment regimens.