Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Pediatr Dermatol ; 39(4): 574-577, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35535014

RESUMO

Confluent and reticulated papillomatosis (CARP) is a dermatosis that often presents during adolescence. Prior studies have linked CARP to metabolic syndrome and comorbidities associated with insulin resistance, such as acanthosis nigricans and type 2 diabetes. Despite this, few studies have evaluated the clinical relationship between glucose dysmetabolism and CARP. In this report, we describe the characteristics of a large cohort of pediatric patients with CARP to further evaluate the potential relationship between CARP and metabolic syndrome in children.


Assuntos
Acantose Nigricans , Diabetes Mellitus Tipo 2 , Resistência à Insulina , Síndrome Metabólica , Papiloma , Acantose Nigricans/complicações , Adolescente , Criança , Diabetes Mellitus Tipo 2/complicações , Humanos , Síndrome Metabólica/complicações , Papiloma/complicações , Neoplasias Cutâneas , Centros de Atenção Terciária
2.
J Pediatr Hematol Oncol ; 44(8): 482-485, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-35129141

RESUMO

PIK3CA -related disorders include vascular malformations, potential overgrowth of various tissues, limb abnormalities, disordered soft tissue, and/or fatty hyperplasia that often leads to significant morbidity. Alpelisib, a targeted inhibitor of p110α, an enzyme encoded by the PIK3CA gene, has demonstrated success in a cohort of patients with PIK3CA -driven overgrowth syndromes. We describe the clinical course of 2 pediatric patients treated with alpelisib under the Novartis Managed Access Program. Both patients, though clinically distinct, demonstrate improvements in overgrowth volumes/extent, function of their affected limb, and quality of life, without significant adverse effects after prolonged treatment.


Assuntos
Qualidade de Vida , Tiazóis , Humanos , Criança , Mutação , Classe I de Fosfatidilinositol 3-Quinases/genética , Tiazóis/efeitos adversos
3.
Dermatol Clin ; 40(1): 73-81, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34799037

RESUMO

The understanding of melanocytes is fundamental to the study of dermatology. These dendritic cells underly the most feared primary cutaneous malignancy, fuel escalating progress in immunotherapy strategies, and invariably underlie entire socioeconomic constructs consciously or unconsciously based on skin tone. Various ethno-genotypes combine with increasing frequency over time, increasing the diversity of skin types that may present with dermatologic diagnoses. Understanding the biology of a variety of skin tones and ethnic practices congruent with distribution of skin tone is invaluable to any physician who wishes to practice efficient and expert care, especially to pediatric patients of this category.


Assuntos
Dermatologia , Neoplasias , Dermatopatias , Criança , Etnicidade , Humanos , Pele , Dermatopatias/terapia , Pigmentação da Pele
4.
Dermatol Clin ; 40(1): 83-93, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34799038

RESUMO

Many dermatologic conditions common in the pediatric population may have unique presentations in skin of color or occur with greater incidence. This may be due to ethnic origin, socioeconomic factors, or other influences. Awareness of the potential variations in skin of color may enhance prompt diagnosis, appropriate treatment, and/or reassurance as indicated.


Assuntos
Dermatologia , Dermatopatias , Criança , Etnicidade , Humanos , Pele , Dermatopatias/epidemiologia , Pigmentação da Pele
5.
Hum Mutat ; 42(8): 1042-1052, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34085356

RESUMO

CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sanger sequencing to identify the underlying molecular cause in five patients with CDAGS syndrome from four distinct families. Whole exome sequencing revealed biallelic rare variants that disrupt highly conserved nucleotides within the RNU12 gene. RNU12 encodes a small nuclear RNA that is a component of the minor spliceosome and is essential for minor intron splicing. Targeted sequencing confirmed allele segregation within the four families. All five patients shared the same rare mutation NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide within the precursor U12 snRNA 3' extension. Each of them also carried a rare variant on the other allele that either disrupts the secondary structure or the Sm binding site of the RNU12 snRNA. Whole transcriptome sequencing analysis of lymphoblastoid cells identified 120 differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events in the patient. These findings provide evidence of the involvement of RNU12 in craniosynostosis, anal and genitourinary patterning, and cutaneous disease.


Assuntos
Craniossinostoses , Anormalidades do Sistema Digestório , Poroceratose , RNA Nuclear Pequeno/genética , Canal Anal/anormalidades , Craniossinostoses/genética , Humanos , Splicing de RNA , RNA Nuclear Pequeno/química
6.
Pediatr Dermatol ; 36(5): 623-627, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31197875

RESUMO

BACKGROUND/OBJECTIVES: Anogenital verrucae (AV) are benign, human papillomavirus (HPV)-induced tumors of the anogenital skin and mucosa. Medical therapy for AV in preadolescents has not been well studied. We explore the efficacy and safety profile of sinecatechins 15% ointment and imiquimod 5% cream in the treatment of AV, alone and in combination therapy with other commonly used medications. METHODS: A single-institution, retrospective review of children under 12 years of age with AV treated with imiquimod 5% cream and sinecatechins 15% ointment was performed. Demographic data, side effects, and outcomes of therapy were recorded for each patient, and overall efficacy was determined. RESULTS: A total of 37 patients met inclusion criteria. Responses were seen in 8 out of 9 patients treated with sinecatechins 15% ointment (5 full, 3 partial, and 1 no response) and 9 out of 17 patients treated with imiquimod 5% cream (4 full, 5 partial, and 8 no response). Combination therapy with one or more of the following treatments (podophyllin, cimetidine, candida antigen injection, and HPV vaccine) were evaluated, but no combination was objectively superior to the others. No significant difference was found in overall efficacy between sinecatechins and imiquimod. Side effects were mild and limited to irritation and erythema. CONCLUSIONS: Both imiquimod 5% cream and sinecatechins 15% ointment are moderately effective in the treatment of AV in preadolescent children, with a trend toward greater effectiveness of sinecatechins. Combination therapy with other treatments did not significantly increase the effectiveness of topical therapies. Each modality has a tolerable side effect profile with a low risk of serious complications.


Assuntos
Antineoplásicos/uso terapêutico , Antioxidantes/uso terapêutico , Catequina/uso terapêutico , Condiloma Acuminado/tratamento farmacológico , Fármacos Dermatológicos/administração & dosagem , Imiquimode/uso terapêutico , Administração Tópica , Criança , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
7.
Dermatol Clin ; 37(3): 387-395, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31084732

RESUMO

To achieve successful dermatologic surgery in a pediatric patient, several factors should be considered, including recognizing a child's inherent anxiety, ability to understand/comply with instructions, engaging their caregiver, and minimizing pain. Distraction techniques, including use of smart devices or classic play, have been shown to reduce anxiety, perception of pain, and increase overall satisfaction with the needed procedure. Customizing the child's need based on their stage of development and family preferences further improves how effectively the techniques are deployed. Because children are naturally playful, suturing techniques and dressing of surgical wounds may also require modification for best possible outcome.


Assuntos
Ansiedade/prevenção & controle , Cuidadores , Procedimentos Cirúrgicos Dermatológicos/métodos , Dermatopatias/cirurgia , Adolescente , Anestesia Local , Ansiedade/etiologia , Criança , Pré-Escolar , Procedimentos Cirúrgicos Dermatológicos/efeitos adversos , Procedimentos Cirúrgicos Dermatológicos/instrumentação , Humanos , Lactente , Recém-Nascido , Posicionamento do Paciente , Seleção de Pacientes
8.
Pediatrics ; 143(3)2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30792255

RESUMO

Giant congenital nevi are melanocytic proliferations of the skin that may be complicated by melanoma, neurocutaneous melanocytosis, pain, pruritus, and disfigurement. Current treatment options include surgical resection and medical management of associated symptoms. There is limited efficacy in these modalities. No effective pharmacologic treatments are available for the treatment of these lesions. We present the case of a 7-year-old girl with a giant congenital melanocytic nevus that had an AKAP9-BRAF fusion and was treated with trametinib, which resulted in rapid resolution of the patient's lifelong, intractable pain and pruritus as well as dramatic improvement in the extent of her nevus.


Assuntos
Antineoplásicos/uso terapêutico , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/tratamento farmacológico , Piridonas/uso terapêutico , Pirimidinonas/uso terapêutico , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/tratamento farmacológico , Criança , Feminino , Humanos , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento
10.
Dermatol Online J ; 24(2)2018 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-29630160

RESUMO

Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes.


Assuntos
Mutação , Síndrome de Waardenburg/genética , Adolescente , Feminino , Humanos
11.
Pediatr Dermatol ; 34(5): e245-e248, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28730607

RESUMO

We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi-Hunermann-Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.


Assuntos
Condrodisplasia Punctata/genética , Ictiose Vulgar/genética , Proteínas de Filamentos Intermediários/genética , Esteroide Isomerases/genética , Adolescente , Condrodisplasia Punctata/complicações , Feminino , Proteínas Filagrinas , Humanos , Ictiose Vulgar/complicações , Mutação de Sentido Incorreto , Pele/patologia , Gêmeos
14.
Pediatr Dermatol ; 31(2): e48-51, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24517846

RESUMO

We report a patient with oral-facial-digital syndrome type 1 (OFDS1) who exhibited features overlapping those of nevus comedonicus syndrome, an unusual presentation that may potentially represent a new variant of OFDS1. OFDS1 and nevus comedonicus syndrome represent two rare syndromes with numerous overlapping features that have yet to be described in relation to one another. The features present in our patient led us to propose the possibility of a new variant of OFDS1 in which nevus comedonicus represents a cutaneous manifestation of the syndrome. Knowledge of this potential relationship is important for identification and management of the syndromes' accompanying manifestations in affected patients and may offer further insight into crossroads of pathogenesis.


Assuntos
Neoplasias Faciais/diagnóstico , Nevo/diagnóstico , Síndromes Orofaciodigitais/diagnóstico , Neoplasias Cutâneas/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos
15.
J Am Acad Dermatol ; 70(1): 108-14, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24176524

RESUMO

BACKGROUND: There are no validated outcome measures for postinflammatory hyperpigmentation (PIH). OBJECTIVE: We sought to determine the reliability and validity of an outcome measure for PIH after acne in patients with skin of color. METHODS: A postacne hyperpigmentation index (PAHPI) was developed. Six raters scored 21 patients with PIH twice. Reliability was determined within and between raters, whereas validity was evaluated by comparing scores with severity ranking by an independent dermatologist. The pigment intensity scores were compared with the melanin index of each patient using a narrowband reflectance spectrophotometer. A quality-of-life score (Skindex-29) was also compared with PAHPI scores. RESULTS: Total PAHPI scores showed good reliability within and between raters and were valid when compared with clinical severity and melanin indices. Good correlation was achieved between the total PAHPI score and the emotion subscale of the Skindex-29. LIMITATIONS: Generalizability of results is limited to African American females. CONCLUSION: The PAHPI shows good reliability and validity when scored on patients with PIH from acne vulgaris. The PAHPI also correlates well with the emotional impact of PIH as measured by the Skindex-29. Future studies should assess the ability of the PAHPI to change with improvement of PIH from acne after treatment.


Assuntos
Acne Vulgar/complicações , Hiperpigmentação/etiologia , Hiperpigmentação/patologia , Índice de Gravidade de Doença , Acne Vulgar/patologia , Adolescente , Adulto , Negro ou Afro-Americano , Povo Asiático , Dermatite/patologia , Feminino , Hispânico ou Latino , Humanos , Hiperpigmentação/psicologia , Masculino , Melaninas/análise , Variações Dependentes do Observador , Qualidade de Vida , Reprodutibilidade dos Testes , Espectrofotometria , Adulto Jovem
18.
Pediatr Dermatol ; 30(5): e89-90, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23458206

RESUMO

Ethnomedical practices are increasing in all parts of the world, including many urban centers. We describe a unique case of a 7-year-old girl with atopic dermatitis who was responsive to parent-initiated treatment with the extract of a plant from the Chenopodium genus. A brief discussion raises awareness of such practices to the practicing dermatologist.


Assuntos
Chenopodium/química , Dermatite Atópica/tratamento farmacológico , Medicina Tradicional/métodos , Fitoterapia/métodos , Extratos Vegetais/uso terapêutico , Criança , Feminino , Humanos , Resultado do Tratamento
19.
Pediatr Dermatol ; 30(4): 502-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23330977

RESUMO

We report a case of acquired protein energy malnutrition with associated zinc deficiency in an 18-month-old boy with type 1 glutaric acidemia. Physical examination findings included generalized nonpitting edema, widespread desquamative plaques, and sparse hair with a reddish tinge. Laboratory abnormalities included low levels of zinc, albumin, alkaline phosphatase, and iron. A review of skin manifestations of nutritional deficiencies, specifically kwashiorkor, is presented, as well as the relatively new entity called acrodermatitis dysmetabolica.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Encefalopatias Metabólicas/diagnóstico , Dermatite/diagnóstico , Glutaril-CoA Desidrogenase/deficiência , Desnutrição Proteico-Calórica/diagnóstico , Zinco/deficiência , Acrodermatite/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Biópsia , Encefalopatias Metabólicas/complicações , Dermatite/etiologia , Diagnóstico Diferencial , Humanos , Lactente , Kwashiorkor/diagnóstico , Masculino , Desnutrição Proteico-Calórica/etiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...