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1.
Dermatol Online J ; 26(7)2020 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-32898404

RESUMO

We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and  spectrum and genotype-phenotype correlation associated with EI/EH.


Assuntos
Hiperceratose Epidermolítica/genética , Queratina-1/genética , Ceratodermia Palmar e Plantar Epidermolítica/genética , Mutação , Criança , Feminino , Pé/patologia , Mãos/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hiperceratose Epidermolítica/patologia , Ceratodermia Palmar e Plantar Epidermolítica/patologia
4.
Int J Gynecol Pathol ; 39(1): 93-96, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30480645

RESUMO

Epidermolytic acanthoma is a rare benign lesion that most often presents as a solitary or multiple small papular lesions on the trunk, face, limbs or external male genitalia. Only a small number of cases have been reported occurring on the vulva and clinically and histologically they may mimic and be misdiagnosed as viral warts. We report 2 cases of multiple epidermolytic acanthomas localized to the vulva. Molecular tests (in situ hybridization and polymerase chain reaction) showed no evidence of human papillomavirus infection and p16 staining was negative. We stress the need for pathologists to consider epidermolytic acanthoma in the differential diagnosis of multiple vulval lesions resembling viral warts.


Assuntos
Acantoma/diagnóstico por imagem , Hiperceratose Epidermolítica/diagnóstico por imagem , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Vulvares/diagnóstico por imagem , Verrugas/diagnóstico por imagem , Acantoma/genética , Acantoma/patologia , Diagnóstico Diferencial , Feminino , Genótipo , Humanos , Hiperceratose Epidermolítica/genética , Hiperceratose Epidermolítica/patologia , Pessoa de Meia-Idade , Infecções por Papillomavirus/diagnóstico por imagem , Infecções por Papillomavirus/genética , Infecções por Papillomavirus/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Vulvares/genética , Neoplasias Vulvares/patologia , Verrugas/genética , Verrugas/patologia
8.
J Invest Dermatol ; 139(8): 1699-1710.e6, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30998984

RESUMO

Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes. This can be applied to counter the effect of dominantly inherited diseases such as epidermolytic ichthyosis. In this study, we used transcription activator-like effector nuclease technology, to disrupt disease-causing mutant KRT10 alleles in an ex vivo cellular approach, with the intent of developing a therapy for patients with epidermolytic ichthyosis. A transcription activator-like effector nuclease was designed to specifically target a region of KRT10, upstream of a premature termination codon known to induce a genetic knockout. This proved highly efficient at gene disruption in a patient-derived keratinocyte cell line. In addition, analysis for off-target effects indicated no promiscuous gene editing-mediated disruption. Reversion of the keratin intermediate filament fragility phenotype associated with epidermolytic ichthyosis was observed by the immunofluorescence analysis of correctly gene-edited single-cell clones. This was in concurrence with immunofluorescence and ultrastructure analysis of murine xenograft models. The efficiency of this approach was subsequently confirmed in primary patient keratinocytes. Our data demonstrate the feasibility of an ex vivo gene-editing therapy for more than 95.6% of dominant KRT10 mutations.


Assuntos
Edição de Genes/métodos , Hiperceratose Epidermolítica/terapia , Filamentos Intermediários/metabolismo , Queratina-10/genética , Pele/patologia , Alelos , Animais , Biópsia , Linhagem Celular , Modelos Animais de Doenças , Éxons/genética , Estudos de Viabilidade , Feminino , Terapia Genética/métodos , Humanos , Hiperceratose Epidermolítica/genética , Hiperceratose Epidermolítica/patologia , Queratina-10/metabolismo , Queratinócitos/patologia , Queratinócitos/transplante , Masculino , Camundongos , Mutação , Cultura Primária de Células , Estabilidade Proteica , Pele/citologia , Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética
9.
J Cutan Pathol ; 46(5): 305-309, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30663082

RESUMO

BACKGROUND: Epidermolytic acanthoma (EA) is a rare, benign acquired cutaneous keratosis displaying epidermolytic hyperkeratosis in more than 50% of its surface. Because of the sparsity of comprehensive studies, little is known on the patient demographics and clinical characteristics of this uncommon entity. We wish to comprehensively characterize the clinical and demographic features of EA and to differentiate it from its mimickers. METHODS: We carried out a retrospective review of 131 cases of EA, recorded clinical and histopathologic features and performed linear regression of yearly incidence rates to assess for possible under-reporting of this entity. RESULTS: EA affected both genders equally. We found 9.08 cases per 100 000 biopsy specimens per year and linear regression analysis showed significantly decreasing incidence rates. Analysis of the anatomical site distribution of EA lesions showed a more frequent genital location in men (39.1% of cases in men, as compared to 11.3% for women). Contrary to previous studies, lesions were most frequently single (91.7%) and the mean age of presentation was 57.8 years. CONCLUSION: The presented largest case series to-date indicates that EA is probably an underdiagnosed entity and establishes the demographic and clinical features of EA.


Assuntos
Acantoma/patologia , Hiperceratose Epidermolítica/patologia , Neoplasias Cutâneas/patologia , Acantoma/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Hiperceratose Epidermolítica/metabolismo , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/metabolismo
10.
Am J Dermatopathol ; 41(6): 453-455, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30461425

RESUMO

Nevus comedonicus is a rare cutaneous follicular hamartoma, characterized by the clustering of papules with firm, blackened horny buffers. It is usually present at birth or during childhood, although few cases of late-onset disease have been described. We present a case of postmenopausal-onset nevus comedonicus in a 55-year-old white woman without relevant medical history. Skin biopsy showed the typical features of several cyst-dilated follicular structures occupied by keratotic material and the peculiar finding of epidermolytic hyperkeratosis of the follicular epithelial walls. A brief review of the clinical and histological features of other similar cases published in the literature is performed.


Assuntos
Hamartoma/patologia , Hiperceratose Epidermolítica/patologia , Dermatopatias/patologia , Feminino , Humanos , Pessoa de Meia-Idade
16.
Wounds ; 30(6): E60-E64, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30059332

RESUMO

INTRODUCTION: Live maggot infestation (myiasis) of wounds can present a host of ailments. Loosely associated with maggot excreta, Morganella morganii is a widespread, gram-negative rod bacterium commonly found in the intestinal tracts of humans. M morganii has been observed as being pathogenic, particularly in nosocomial and postoperative environments, as well as in immunosuppressed and elderly populations. CASE REPORT: Herein, the authors present a rare, previously unreported case of M morganii septicemia (as confirmed by positive blood culture), secondary to myiasis of the lower extremities. The patient was successfully treated with both systemic and topical interventions. Posttreatment examination revealed resolution of myiasis and negative blood cultures. CONCLUSIONS: Myiasis can be invasive, leading to severe systemic infection. In these cases, a broad-spectrum antibiotic combined with systemic and topical antiparasitic therapy should be considered.


Assuntos
Infecções por Enterobacteriaceae/patologia , Hiperceratose Epidermolítica/patologia , Extremidade Inferior/patologia , Morganella morganii/patogenicidade , Miíase/complicações , Síndrome Pós-Trombótica/complicações , Sepse/patologia , Administração Intravenosa , Administração Tópica , Idoso de 80 Anos ou mais , Carbapenêmicos/administração & dosagem , Infecções por Enterobacteriaceae/terapia , Humanos , Hidroterapia/métodos , Hiperceratose Epidermolítica/parasitologia , Hiperceratose Epidermolítica/terapia , Inseticidas/administração & dosagem , Extremidade Inferior/parasitologia , Masculino , Miíase/patologia , Miíase/terapia , Pomadas/administração & dosagem , Permetrina/administração & dosagem , Síndrome Pós-Trombótica/fisiopatologia , Síndrome Pós-Trombótica/terapia , Sepse/parasitologia , Sepse/terapia , Resultado do Tratamento
18.
J Dermatol ; 45(8): 1003-1008, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29756235

RESUMO

Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier's disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0.2-0.3 mg/kg per day acitretin for more than 12 years after an initial period at a larger acitretin dose to bring each disease under control. The patients had good responses to acitretin treatment, which was assessed for safety, skeletal abnormalities, growth retardation and other potential side-effects. Acitretin monotherapy was an effective treatment for these children, and maintenance doses were well tolerated with no skeletal or other observable side-effects during the course of the study.


Assuntos
Acitretina/uso terapêutico , Doença de Darier/tratamento farmacológico , Hiperceratose Epidermolítica/tratamento farmacológico , Ictiose Lamelar/tratamento farmacológico , Ceratolíticos/uso terapêutico , Acitretina/farmacologia , Administração Oral , Adolescente , Biópsia , China , Doença de Darier/patologia , Relação Dose-Resposta a Droga , Humanos , Hiperceratose Epidermolítica/patologia , Ictiose Lamelar/patologia , Ceratolíticos/farmacologia , Assistência de Longa Duração/métodos , Masculino , Qualidade de Vida , Pele/patologia , Resultado do Tratamento , Adulto Jovem
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