RESUMO
BACKGROUND: Collagenomas are rare connective tissue hamartomas composed of dermal collagen. Patients infected with human immunodeficiency virus (HIV) can present with HIV-related lipodystrophy or lipomas. There are no known associations between HIV and collagenomas. CASE PRESENTATION: Here we describe a case of an isolated collagenoma in an HIV patient on ART. The lesion was a seven by four-centimeter subcutaneous nodule with no epidermal changes located on the occipital scalp. This lesion was excised, and histopathology showed thick and randomly arranged collagen bundles, consistent with a collagenoma. CONCLUSION: This case represents an isolated collagenoma presenting in a patient with HIV. It is unclear whether HIV or ART contributed to the development of this collagenoma. Treatment of collagenomas include surgical excision and intralesional corticosteroids. In addition to lipoma or lipodystrophy, it is important to keep collagenoma in the differential diagnosis in a patient presenting with an isolated large indurated subcutaneous nodule.
Assuntos
Infecções por HIV , Soropositividade para HIV , Hamartoma , Lipodistrofia , Humanos , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológicoRESUMO
BACKGROUND: Surgical and nonsurgical methods are used for treating basal cell carcinoma (BCC). Few randomized controlled trials exist on the effectiveness of the pulsed dye laser (PDL) on BCC treatment. OBJECTIVE: We investigated the effectiveness of PDL treatment in a single session for the management of nodular and superficial BCCs on the trunk and extremities of adults using a randomized, double-blind, controlled technique. METHODS: We used settings of fluence 7.5 J/cm2, 3-ms pulse duration, no dynamic cooling, 10-mm spot size, 10% overlap between pulses, and 2 stacked pulses on a 595-nm wavelength laser. Histopathologic clearance on excision of tumor with 4-mm margins was the primary outcome measure. RESULTS: Twenty-four patients were included in the study, with 14 in the laser treatment group and 10 patients in the sham/control group. In total, 10/14 (71.4%) of the tumors in the treatment group were successfully treated with no residual tumor on excisional specimen histology, compared with 3/10 (30.0%) of the control group (p = .045). CONCLUSION: Our study shows that PDL may be an effective treatment for low-risk BCCs of the trunk and extremities, but the cure rate is lower than those of other treatments for BCC. Thus, PDL under the current settings cannot be recommended.
Assuntos
Carcinoma Basocelular/cirurgia , Lasers de Corante/uso terapêutico , Neoplasias Cutâneas/cirurgia , Adulto , Idoso , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Skin cancer has traditionally been studied in Caucasian skin. Although it does occur with increased relative frequency in Caucasians, patients with skin of color suffer from elevated morbidity and mortality when diagnosed with skin cancer. OBJECTIVE: To detail the unique demographic, clinical, and genetic features of melanoma in patients with skin of color, including Hispanic, African American, and Asian patients. MATERIALS AND METHODS: A PubMed search was conducted spanning dates 1947 to June 2017. A total of 246 articles were screened, from which 69 were included in this review. RESULTS: Relative to Caucasians, melanoma has unique demographic, clinical, and genetic features in African Americans, Hispanics, and Asians that include gender and subtype predominance. CONCLUSION: Familiarization with these unique presentations of skin cancer in skin of color is imperative to accurate identification and treatment of cutaneous malignancies in these populations and ultimately to improved disease-related outcomes.
Assuntos
Povo Asiático , Negro ou Afro-Americano , Hispânico ou Latino , Melanoma/diagnóstico , Melanoma/etnologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etnologia , Humanos , Melanoma/mortalidade , Melanoma/terapia , Prognóstico , Fatores de Risco , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/terapia , Tempo para o Tratamento , População BrancaRESUMO
Sorafenib is an oral multikinase inhibitor approved by the United States Food and Drug Administration for the treatment of advanced hepatocellular and renal cell carcinoma. Cases of sorafenib-induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome have been reported in the literature. DRESS syndrome is a potentially fatal, drug-induced hypersensitivity reaction that occurs 2-8 weeks after drug exposure. DRESS syndrome presents with generalized morbilliform eruption, facial edema, eosinophilia, and end-organ damage. We present the first reported case of sorafenib toxicity mimicking DRESS syndrome in a patient with metastatic adrenocortical carcinoma presenting with fever, morbilliform rash, and transaminitis in the absence of eosinophilia three days following initiation of sorafenib therapy. It is critical that clinicians are equipped to accurately diagnose DRESS syndrome due to its high mortality rate and the morbidity associated with prolonged steroid therapy. J Drugs Dermatol. 2019;18(5):468-469.
Assuntos
Neoplasias do Córtex Suprarrenal/tratamento farmacológico , Carcinoma Adrenocortical/tratamento farmacológico , Antineoplásicos/toxicidade , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Sorafenibe/toxicidade , Neoplasias do Córtex Suprarrenal/patologia , Carcinoma Adrenocortical/secundário , Diagnóstico Diferencial , Síndrome de Hipersensibilidade a Medicamentos/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Metástase NeoplásicaRESUMO
BACKGROUND: Skin cancer has traditionally been studied in Caucasian skin. Although it does occur with increased relative frequency in Caucasians, patients with skin of color suffer from elevated morbidity and mortality when diagnosed with skin cancer. OBJECTIVE: To detail the unique demographic and clinical features of nonmelanoma skin cancer (NMSC) in patients with skin of color, including Hispanic, African American, and Asian patients. MATERIALS AND METHODS: A complete PubMed search was conducted spanning dates from 1947 to June 2017 yielding a total of 185 manuscripts, from which 45 were included in this review. RESULTS: Relative to Caucasians, NMSC, comprised squamous cell carcinoma and basal cell carcinoma, has unique demographic and clinical features in African Americans, Hispanics, and Asians. CONCLUSION: Familiarization with these unique presentations of skin cancer in skin of color is imperative to accurate identification and treatment of cutaneous malignancies in these populations and ultimately to improved disease-related outcomes.
Assuntos
Povo Asiático , Negro ou Afro-Americano , Carcinoma Basocelular/etnologia , Carcinoma de Células Escamosas/etnologia , Hispânico ou Latino , Neoplasias Cutâneas/etnologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/patologia , Humanos , Neoplasias Cutâneas/patologiaRESUMO
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.
Assuntos
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
BACKGROUND: Autism involves early brain overgrowth and dysfunction, which is most strongly evident in the prefrontal cortex. As assessed on pathological analysis, an excess of neurons in the prefrontal cortex among children with autism signals a disturbance in prenatal development and may be concomitant with abnormal cell type and laminar development. METHODS: To systematically examine neocortical architecture during the early years after the onset of autism, we used RNA in situ hybridization with a panel of layer- and cell-type-specific molecular markers to phenotype cortical microstructure. We assayed markers for neurons and glia, along with genes that have been implicated in the risk of autism, in prefrontal, temporal, and occipital neocortical tissue from postmortem samples obtained from children with autism and unaffected children between the ages of 2 and 15 years. RESULTS: We observed focal patches of abnormal laminar cytoarchitecture and cortical disorganization of neurons, but not glia, in prefrontal and temporal cortical tissue from 10 of 11 children with autism and from 1 of 11 unaffected children. We observed heterogeneity between cases with respect to cell types that were most abnormal in the patches and the layers that were most affected by the pathological features. No cortical layer was uniformly spared, with the clearest signs of abnormal expression in layers 4 and 5. Three-dimensional reconstruction of layer markers confirmed the focal geometry and size of patches. CONCLUSIONS: In this small, explorative study, we found focal disruption of cortical laminar architecture in the cortexes of a majority of young children with autism. Our data support a probable dysregulation of layer formation and layer-specific neuronal differentiation at prenatal developmental stages. (Funded by the Simons Foundation and others.).
Assuntos
Transtorno Autístico/patologia , Neocórtex/ultraestrutura , Adolescente , Transtorno Autístico/genética , Biomarcadores/análise , Biomarcadores/metabolismo , Calbindina 1/genética , Contagem de Células , Criança , Pré-Escolar , Crioultramicrotomia , Nucleotídeo Cíclico Fosfodiesterase do Tipo 1/genética , Expressão Gênica , Humanos , Imageamento Tridimensional , Hibridização In Situ , Neocórtex/crescimento & desenvolvimento , Proteínas do Tecido Nervoso/genética , Proteínas de Neurofilamentos/genética , Neurogênese , Neurônios/patologia , Membro 2 do Grupo F da Subfamília 1 de Receptores Nucleares/genética , RNA/genéticaAssuntos
Carcinoma Basocelular/cirurgia , Carcinoma de Células Escamosas/cirurgia , Infecções por HIV/imunologia , Margens de Excisão , Neoplasias Cutâneas/cirurgia , Contagem de Linfócito CD4 , Carcinoma Basocelular/complicações , Carcinoma de Células Escamosas/complicações , Estudos de Casos e Controles , Infecções por HIV/complicações , Humanos , Cirurgia de Mohs , Período Pré-Operatório , Estudos Retrospectivos , Fatores de Risco , Neoplasias Cutâneas/complicaçõesAssuntos
Anestesia Local/efeitos adversos , Anestésicos Locais/efeitos adversos , Paralisia de Bell/induzido quimicamente , Paralisia de Bell/diagnóstico por imagem , Lidocaína/efeitos adversos , Idoso , Diagnóstico Diferencial , Nervo Facial , Feminino , Humanos , Cirurgia de Mohs/efeitos adversos , Acidente Vascular Cerebral/diagnósticoAssuntos
Relação CD4-CD8 , Carcinoma Basocelular/cirurgia , Carcinoma de Células Escamosas/cirurgia , Infecções por HIV/complicações , Neoplasias Cutâneas/imunologia , Carcinoma Basocelular/sangue , Carcinoma Basocelular/imunologia , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/sangue , Carcinoma de Células Escamosas/imunologia , Carcinoma de Células Escamosas/patologia , Feminino , Infecções por HIV/sangue , Infecções por HIV/imunologia , Humanos , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Cirurgia de Mohs/estatística & dados numéricos , Valor Preditivo dos Testes , Estudos Retrospectivos , Pele/patologia , Neoplasias Cutâneas/sangue , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Carga Tumoral/imunologiaAssuntos
Dermatofibrossarcoma/patologia , Neoplasias Cutâneas/patologia , Antígenos CD34/metabolismo , Atrofia/patologia , Dermatofibrossarcoma/congênito , Dermatofibrossarcoma/diagnóstico , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/diagnóstico , Adulto JovemRESUMO
BACKGROUND: Adalimumab is an anti-TNF biologic drug that is efficacious in the treatment of psoriasis. However, the effect of adalimumab on genome-wide gene expression changes in skin and peripheral blood is not well characterized.
METHODS: Thirty adult subjects with > 10% body surface area of chronic plaque psoriasis were recruited for the study. Lesional skin and peripheral blood mononuclear cell samples prior to and one month following treatment with adalimumab were collected. The skin samples were analyzed using genome-wide RNAseq, and the blood samples were analyzed using genome-wide Affymetrix microarrays. Data preprocessing and analysis were conducted using the EdgeR and Affy packages in R/Bioconductor.
RESULTS: In the skin, paired analysis before and after treatment revealed changes in pathways important to epidermal development and keratinocyte differentiation. Such important genes as keratin 6A and 6B, tubulin B6, desmocollin, and desmoglein 3 were among the top differentially expressed genes. In peripheral blood, pathways involved in hematopoetic cell lineage and immune response were found to be differentially expressed, including genes such as the Fc receptor-like A and 5, as well as immunoglobulin heavy chains. Using a principal components approach, we show that expression of genes in post-treatment skin more closely resembles that of healthy controls.
CONCLUSION: Treatment of psoriasis with adalimumab appears to be associated with modulation of keratinocyte and epidermal proliferation in the skin and with immunologic changes in the blood. We discuss the ramifications of these findings for the treatment for psoriasis.
J Drugs Dermatol. 2016;15(8):988-994.
Assuntos
Adalimumab/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Psoríase/sangue , Psoríase/genética , Pele/metabolismo , Transcriptoma/genética , Adalimumab/farmacologia , Adulto , Anti-Inflamatórios/farmacologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psoríase/tratamento farmacológico , Pele/efeitos dos fármacos , Transcriptoma/efeitos dos fármacos , Resultado do Tratamento , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto JovemAssuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Gerenciamento Clínico , Oncologia/métodos , Pneumonia Viral/complicações , Neoplasias Cutâneas/complicações , COVID-19 , Infecções por Coronavirus/epidemiologia , Humanos , Pandemias , Pneumonia Viral/epidemiologia , SARS-CoV-2 , Neoplasias Cutâneas/terapiaAssuntos
Procedimentos Endovasculares/métodos , Terapia a Laser/métodos , Livedo Reticular/cirurgia , Úlcera Cutânea/cirurgia , Insuficiência Venosa/cirurgia , Pé , Humanos , Perna (Membro) , Livedo Reticular/complicações , Masculino , Pessoa de Meia-Idade , Úlcera Cutânea/etiologia , Resultado do Tratamento , Insuficiência Venosa/complicaçõesAssuntos
Histiocitose Sinusal/tratamento farmacológico , Histiocitose Sinusal/patologia , Metotrexato/administração & dosagem , Prednisona/administração & dosagem , Idoso de 80 Anos ou mais , Biópsia por Agulha , Quimioterapia Combinada , Histiocitose Sinusal/diagnóstico , Humanos , Imuno-Histoquímica , Masculino , Doenças Raras , Índice de Gravidade de Doença , Pele/patologia , Resultado do TratamentoAssuntos
Histiocitose Sinusal/tratamento farmacológico , Histiocitose Sinusal/patologia , Metotrexato/uso terapêutico , Prednisona/uso terapêutico , Pele/patologia , Idoso de 80 Anos ou mais , Biópsia por Agulha , Seguimentos , Humanos , Imuno-Histoquímica , Masculino , Doenças Raras , Medição de Risco , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies involving key brain regions to replicate these findings and solidify the role of particular functional pathways in autism pathogenesis. We therefore sought to identify abnormal brain gene expression patterns via whole-genome analysis of mRNA levels and copy number variations (CNVs) in autistic and control postmortem brain samples. We focused on prefrontal cortex tissue where excess neuron numbers and cortical overgrowth are pronounced in the majority of autism cases. We found evidence for dysregulation in pathways governing cell number, cortical patterning, and differentiation in young autistic prefrontal cortex. In contrast, adult autistic prefrontal cortex showed dysregulation of signaling and repair pathways. Genes regulating cell cycle also exhibited autism-specific CNVs in DNA derived from prefrontal cortex, and these genes were significantly associated with autism in genome-wide association study datasets. Our results suggest that CNVs and age-dependent gene expression changes in autism may reflect distinct pathological processes in the developing versus the mature autistic prefrontal cortex. Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess prefrontal neurons, cortical overgrowth, and neural dysfunction in autism.