RESUMO
This cohort study describes the clinical features, patient characteristics, and treatment of anti-melanoma differentiationassociated gene 5 (MDA5) dermatomyositis.
Assuntos
Continuidade da Assistência ao Paciente , Dermatomiosite , Hospitalização , Helicase IFIH1 Induzida por Interferon , Humanos , Dermatomiosite/imunologia , Dermatomiosite/tratamento farmacológico , Dermatomiosite/terapia , Helicase IFIH1 Induzida por Interferon/imunologia , Hospitalização/estatística & dados numéricos , Feminino , Continuidade da Assistência ao Paciente/organização & administração , Masculino , Pessoa de Meia-Idade , Adulto , Autoanticorpos/sangue , Autoanticorpos/imunologiaRESUMO
Pyoderma gangrenosum (PG) is a rare, and often challenging to diagnose, inflammatory disorder with relatively high rates of morbidity and mortality. Central to the diagnosis of PG is histologic evaluation and exclusion of other entities. Large-scale studies investigating the proportion of patients receiving a thorough diagnostic work-up, as well as prevalence studies regarding comorbidities and systemic treatment in PG using claims-based data, are sparse. Our objective was to identify patients diagnosed with PG and describe the diagnostic work-up and prevalence of common comorbidities and therapies in this population using claims-based data in a retrospective cohort study. In order to better understand practices of diagnostic work-up, we captured rates of skin biopsy, tissue culture, and/or surgical debridement prior to initial diagnosis. We also identified the prevalence of PG-associated comorbidities and initial immunosuppressive therapy given for PG. Of the 565 patients diagnosed with PG, 9.4% underwent skin biopsy, 8% tissue culture, and 1.4% both skin biopsy AND tissue culture prior to diagnosis. Inflammatory bowel disease was the most prevalent comorbidity (16.3%). The most common treatment administered was systemic corticosteroids (17%). Although practice guidelines explicitly delineate histology and exclusion of infection as important diagnostic criteria, only a minority of patients in this study underwent skin biopsy and/or tissue culture prior to receiving a diagnosis of PG, suggesting that patients may receive a diagnosis of PG without having tissue evaluation. Such discordance between practice guidelines and "real-world" practice inevitably increases the risk for misdiagnosis of PG and misdirected treatment with immunosuppressants for presumptive PG in cases of PG mimickers. Moreover, comorbidities associated with PG may occur, or be identified in, a lower proportion of patients as compared with what is reported in the existing literature. Study limitations include a population restricted to < 65 years with commercial insurance and the reliance upon ICD diagnostic coding to capture the population.
Assuntos
Pioderma Gangrenoso , Humanos , Pioderma Gangrenoso/diagnóstico , Pioderma Gangrenoso/epidemiologia , Pioderma Gangrenoso/terapia , Estudos Retrospectivos , Imunossupressores/uso terapêutico , Pele/patologia , CorticosteroidesRESUMO
BACKGROUND: Patient outcomes are improved when dermatologists provide inpatient consultations. Inpatient access to dermatologists is limited, illustrating an opportunity to use teledermatology. Little is known about the ability of dermatologists to accurately diagnose disease and manage inpatients with teledermatology, particularly when using nondermatologist-generated clinical data. METHODS: This prospective study assessed the ability of teledermatology to diagnose disease and manage 41 dermatology consultations from a large urban tertiary care center, using internal medicine referral documentation and photographs. Twenty-seven dermatology hospitalists were surveyed. Interrater agreement was assessed by the κ statistic. RESULTS: There was substantial agreement between in-person and teledermatology assessment of the diagnosis with differential diagnosis (median κ = 0.83), substantial agreement in laboratory evaluation decisions (median κ = 0.67), almost perfect agreement in imaging decisions (median κ = 1.0), and moderate agreement in biopsy decisions (median κ = 0.43). There was almost perfect agreement in treatment (median κ = 1.0), but no agreement in follow-up planning (median κ = 0.0). There was no association between raw photograph quality and the primary plus differential diagnosis or primary diagnosis alone. LIMITATIONS: Selection bias and single-center nature. CONCLUSIONS: Teledermatology may be effective in the inpatient setting, with concordant diagnosis, evaluation, and management decisions.
Assuntos
Dermatologia/métodos , Hospitalização , Consulta Remota/métodos , Dermatopatias/diagnóstico , Adulto , Idoso , Estudos de Viabilidade , Feminino , Médicos Hospitalares/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Fotografação , Estudos Prospectivos , Pele/diagnóstico por imagem , Inquéritos e Questionários/estatística & dados numéricos , Centros de Atenção TerciáriaRESUMO
BACKGROUND: In instances of suspected cutaneous infection, the standard of care includes obtaining skin biopsy specimens for histology and tissue culture. Few studies have compared the clinical utility of each test. OBJECTIVE: To assess the concordance of results between tissue culture and histology, as well as the clinicopathologic features that may influence the diagnostic yield of each test. METHODS: A retrospective review of all patients who underwent skin biopsy for histology and tissue culture at New York University from 2013 through 2018. RESULTS: Of 179 patients, 10% had positive concordance, 21% had positive tissue culture only, and 7% had positive histology only. We calculated a kappa correlation coefficient of 0.25 between histology and tissue culture (reference, 0.21-0.39 indicates minimal agreement). Histology exhibited higher sensitivity in detecting fungi, whereas tissue culture was more sensitive in identifying Gram-negative bacteria. Antimicrobial use before biopsy led to significantly fewer positive cultures (37.5% vs 71%; P = .023) in patients ultimately diagnosed with infection. LIMITATIONS: This study was conducted at a single institution, thereby restricting its broad applicability. The lack of a validated criterion standard to diagnose infection also limits interpretation of the results. CONCLUSION: Tissue culture and histopathology often yield discordant results. Dermatologists should recognize specific limitations, yet high clinical utility in special circumstances, of tests when approaching cases of suspected infection.
Assuntos
Dermatopatias Infecciosas/diagnóstico , Dermatopatias Infecciosas/microbiologia , Adulto , Idoso , Biópsia , Feminino , Humanos , Masculino , Técnicas Microbiológicas/métodos , Pessoa de Meia-Idade , Estudos Retrospectivos , Dermatopatias Infecciosas/patologia , Coloração e Rotulagem , Técnicas de Cultura de TecidosRESUMO
Dermatomyositis is a rare inflammatory disease with characteristic cutaneous findings and varying amounts of systemic involvement. Patients may present with skin disease alone, have concomitant muscle disease, or have extracutaneous manifestations such as pulmonary disease or an associated malignancy. Given such diverse presentations, dermatomyositis is both a diagnostic and therapeutic challenge. However, a prompt diagnosis is of utmost importance to institute adequate therapy and screen patients for an associated malignancy. Dermatologists should play a crucial role in the diagnosis and management of patients with dermatomyositis as cutaneous disease tends to be chronic, negatively impact quality of life, and be more recalcitrant to therapy. In this review, we discuss diagnosis, with a focus on myositis-specific antibodies and their associated phenotypes. We also review therapies available for this often refractory skin disease.
Assuntos
Dermatomiosite/diagnóstico , Dermatomiosite/terapia , Administração Cutânea , Administração Intravenosa , Administração Oral , Antimaláricos/administração & dosagem , Antipruriginosos/administração & dosagem , Autoanticorpos/sangue , Autoanticorpos/imunologia , Biópsia , Diagnóstico Tardio/prevenção & controle , Dermatomiosite/sangue , Dermatomiosite/imunologia , Quimioterapia Combinada/métodos , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Imunossupressores/administração & dosagem , Músculo Esquelético/imunologia , Músculo Esquelético/patologia , Roupa de Proteção , Qualidade de Vida , Índice de Gravidade de Doença , Pele/imunologia , Pele/patologia , Pele/efeitos da radiação , Luz Solar/efeitos adversos , Protetores Solares/administração & dosagem , Resultado do Tratamento , Raios Ultravioleta/efeitos adversosRESUMO
BACKGROUND: Malignant angiomyolipoma is an uncommon tumor of the class of perivasciular epithelioid cell neoplasms (PEComas). These tumors are characteristically driven by deleterious mutations in the tumor suppressors TSC1 and TSC2, whose gene products typically act to inhibit mTOR. There are several cases of malignant angiomyolipoma which exhibit transient responses to mTOR inhibitors, forming the basis of current practice guidelines in malignant PEComa. However the tumors ultimately acquire resistance, and there is no well-established second-line option. Despite the increasing prevalence of immunotherapy across a wide range of solid tumors, little is known about the immune infiltrate and PD-L1 expression of angiomyolipoma. Furthermore, there is no reported case on the treatment of malignant angiomyolipoma with an immune checkpoint inhibitor. CASE PRESENTATION: A 38 year-old man presented with gross hematuria and was diagnosed with renal epithelioid angiomyolipoma. Despite surgical resection, the tumor recurred and metastasized. Targeted genomic sequencing revealed a deleterious mutation in TSC2, and the patient was treated with the mTOR inihbitor everolimus. The patient went on to have a partial response but ultimately progressed. He was then treated with the anti-PD-1 immune checkpoint inhibitor nivolumab, and achieved a durable near-complete response which is ongoing after two years of treatment. Immunohistochemical staining of tumor tissue revealed strong PD-L1 expression and a brisk T-cell infiltrate. CONCLUSIONS: We report on the first durable systemic treatment of malignant epithelioid angiomyolipoima with the use of PD-1 antibody nivolumab. Given the absence of prospective clinical trials in this exceedingly rare disease, particularly in the second-line setting, immune checkpoint inhibitors like nivolumab should be considered.
Assuntos
Angiomiolipoma/tratamento farmacológico , Antineoplásicos Imunológicos/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Nivolumabe/uso terapêutico , Receptor de Morte Celular Programada 1/antagonistas & inibidores , Adulto , Angiomiolipoma/diagnóstico por imagem , Angiomiolipoma/patologia , Humanos , Imunoterapia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Masculino , Resultado do TratamentoRESUMO
Kaposi sarcoma (KS) is a vascular neoplasm that is one of the most common human immunodeficiency virus (HIV)-related malignancies. We present the case of a 42-year-old man with a new diagnosis of HIV and acquired immune deficiency syndrome (AIDS)-related epidemic KS.
Assuntos
Infecções Oportunistas Relacionadas com a AIDS/patologia , Sarcoma de Kaposi/patologia , Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Infecções Oportunistas Relacionadas com a AIDS/tratamento farmacológico , Infecções Oportunistas Relacionadas com a AIDS/epidemiologia , Adulto , Terapia Antirretroviral de Alta Atividade , Epidemias , Herpesvirus Humano 8 , Humanos , Masculino , Sarcoma de Kaposi/diagnóstico , Sarcoma de Kaposi/tratamento farmacológico , Sarcoma de Kaposi/epidemiologiaAssuntos
Papulose Linfomatoide , Úlcera Cutânea/diagnóstico , Pele/patologia , Biópsia/métodos , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Papulose Linfomatoide/patologia , Papulose Linfomatoide/fisiopatologia , Papulose Linfomatoide/terapia , Pessoa de Meia-Idade , Necrose , Administração dos Cuidados ao Paciente/métodos , Úlcera Cutânea/etiologiaRESUMO
PURPOSE OF REVIEW: First recognized in 1974, eosinophilic fasciitis (EF) is a fibrosing disorder of the fascia with characteristic cutaneous and hematologic manifestations. This review discusses recent trends in the diagnosis and treatment of EF. RECENT FINDINGS: Although fascial biopsy has classically been considered the gold standard for making a diagnosis of EF, radiologic imaging, particularly magnetic resonance imaging, has been increasingly used for both diagnosis and monitoring of treatment response. Systemic corticosteroids remain the first-line treatment for EF; however, their often prolonged use in the treatment of EF has prompted a search for adjunctive therapies. Methotrexate has emerged as the leading corticosteroid-sparing agent for EF. Since EF was initially described over 40 years ago, important diagnostic and therapeutic progress has been made. Future efforts should be directed at the pursuit of prospective studies including clinical trials and evidence-based guidelines.
Assuntos
Corticosteroides/uso terapêutico , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológico , Fasciite/diagnóstico , Fasciite/tratamento farmacológico , Metotrexato/uso terapêutico , Eosinofilia/diagnóstico por imagem , Fasciite/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Resultado do TratamentoAssuntos
Lesões por Radiação/tratamento farmacológico , Esclerodermia Localizada/tratamento farmacológico , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Terapia PUVA , Lesões por Radiação/etiologia , Lesões por Radiação/terapia , Radioterapia/efeitos adversos , Estudos Retrospectivos , Esclerodermia Localizada/etiologia , Esclerodermia Localizada/terapiaRESUMO
We present a 57 year-old man presented with generalized hyperhidrosis and widespread, smooth, flesh colored papules on the torso and extremities.Histological examination from multiple biopsies demonstrated morphologic alteration of the eccrine glands with an apocrine phenotype, suggesting eitherapocrine metaplasia or the presence of "apoeccrine glands." The morphologic similarities between eccrine, apocrine, and apoeccrine as they relate to ourpatient's histologic findings are discussed. We consider secondary causes of generalized hyperhidrosis, which may also play a role in this patient's presentation. Treatment and further workup are discussed, whilemanagement of this patient remains in progress.
Assuntos
Glândulas Apócrinas/patologia , Glândulas Écrinas/patologia , Hiperidrose/etiologia , Biópsia , Glândulas Écrinas/fisiopatologia , Humanos , Masculino , Metaplasia , Pessoa de Meia-IdadeRESUMO
Chronic arsenic exposure is known to inducepunctate keratoses with an increased risk ofprimary squamous-cell carcinoma. Drinking wateris currently the major source of arsenic exposureworldwide and is considered one of the mostsubstantial environmental carcinogens. We describethe case of a 61-year-old Hungarian woman withscattered, acral, hyperkeratotic papules and a historyof five palmoplantar squamous-cell carcinomasas well as two other extremity non-melanomaskin cancers. Prior to immigration, she had livedin a county of Southern Hungary that is known tohave elevated concentrations of inorganic arsenicin the drinking water above the World HealthOrganization's current maximum threshold forsafety. To date, this report is the first to describethe phenomenon of palmoplantar squamouscellcarcinomas in a patient from this region andunderscores the importance of vigilant screening inthose individuals who have spent substantial time inhigh-risk regions internationally and domestically.
Assuntos
Carcinoma de Células Escamosas/diagnóstico , Ceratose/diagnóstico , Neoplasias Cutâneas/diagnóstico , Intoxicação por Arsênico/complicações , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/patologia , Água Potável , Feminino , Pé , Dermatoses do Pé/diagnóstico , Dermatoses do Pé/etiologia , Dermatoses do Pé/patologia , Dermatoses da Mão/diagnóstico , Dermatoses da Mão/etiologia , Dermatoses da Mão/patologia , Humanos , Hungria/etnologia , Ceratose/etiologia , Ceratose/patologia , Pessoa de Meia-Idade , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologiaRESUMO
We present a 42-year-old transgender womanwith woody induration over her buttocks andlower extremities as well as persistent ulcers of thebuttocks. The lesions developed ten years prior to herpresentation and approximately five years after shereceived illegal silicone injections to her buttocks.Histopathologic examination was consistent witha silicone granuloma. Silicone granuloma is a notan uncommon side effect of silicone injections andmore often occurs when the filler is administeredby non-physician practitioners, as is the case in thispatient. Ulcerative silicone granulomas, however,rarely are reported. In this case, the patient'shemodialysis treatments, which required longperiods of weight bearing on her buttocks, may havepredisposed her to ulcers in this area, and the ulcersmay have been in part due to poor vascular supplyas well as physical pressure. Treatment of this patientis relatively challenging, owing to her multiplecomorbidities that include end-stage renal diseaseand congestive heart failure.
Assuntos
Nádegas , Granuloma de Corpo Estranho/diagnóstico , Silicones/efeitos adversos , Úlcera Cutânea/diagnóstico , Adulto , Feminino , Granuloma de Corpo Estranho/induzido quimicamente , Granuloma de Corpo Estranho/patologia , Humanos , Injeções , Masculino , Úlcera Cutânea/induzido quimicamente , Úlcera Cutânea/patologia , Pessoas TransgêneroRESUMO
Sarcoidosis is a multiorgan inflammatory diseasewith variable clinical presentations and the commonhistopathologic finding of noncaseating granulomas.The etiology of the disease is not known, butevidence suggests both environmental and geneticcontributions to the pathogenesis. Depending onthe severity of cutaneous disease and extent ofextracutaneous involvement, therapies range fromtopical and intralesional glucocorticoids to systemicimmunomodulatory and immunosuppressiveagents. We present the case of a patient withcutaneous sarcoidosis with prominent necrosis onhistopathologic examination in the setting of severepulmonary sarcoidosis.