Assuntos
Leucemia-Linfoma de Células T do Adulto , Linfoma de Células T , Neoplasias Cutâneas , Adulto , Humanos , Leucemia-Linfoma de Células T do Adulto/complicações , Leucemia-Linfoma de Células T do Adulto/diagnóstico , Leucemia-Linfoma de Células T do Adulto/patologia , Neoplasias Cutâneas/patologiaRESUMO
We report a 74-year-old Japanese man with squamous cell carcinoma (SCC) originating in the frontal sinus. It presented as a cutaneous nodule on his right forehead. Magnetic resonance imaging (MRI) revealed invasion of the anterior wall of the ethmoid sinus, the frontal bone, and possibly the meninx by a frontal sinus carcinoma. Despite right fronto craniotomy with en bloc resection followed by two courses of radiation therapy and chemotherapy with 5-fluorouracil and nedaplatin or TS-1 he died of disease-related causes 20 months later. Herein, we present a detailed description of this patient and a review of the published work.
Assuntos
Carcinoma de Células Escamosas/diagnóstico , Seio Frontal/patologia , Neoplasias dos Seios Paranasais/diagnóstico , Idoso , Diagnóstico Diferencial , Seio Etmoidal/patologia , Neoplasias Faciais/diagnóstico , Evolução Fatal , Osso Frontal/patologia , Humanos , Masculino , Invasividade Neoplásica , Neoplasias Cranianas/diagnósticoRESUMO
We have treated two patients with extramammary Paget's disease/carcinoma (EMPD/C), a 62-year-old woman and a 78-year-old man. In both patients, lymph nodes in the areas of the bilateral inguinal, external iliac arteries, and abdominal aorta were affected. After surgery, they underwent 5 courses of systemic combination chemotherapy at 4-week intervals to residual or recurrent lymph node metastasis. Each course consisted of 3.5 mg mitomycin C and 50 mg epirubicin (day 1), 0.6 mg vincristine (days 1 and 7), 30 mg cisplatin (days 1, 2, and 3), and 350 mg 5-fluorouracil (days 3, 4, 5, 6, and 7). The affected lymph nodes in both patients subsided in response to the chemotherapy. Positron emission tomography (PET) scans confirmed the complete remission of lymph node metastasis in Case 1. In Case 2, they were reduced by more than 90% on computed tomography (CT) scans. Adverse effects included leukocytopenia, vomiting, hypesthesia, and constipation, all of which disappeared after the completion of chemotherapy. While surgery with wide local excision is the treatment of choice in patients with EMPD/C, there is currently no standardized treatment for advanced cases with metastasis. We describe two patients with EMPD/C whose metastatic lesions responded well to this combination of chemotherapy.
Assuntos
Doença de Paget Extramamária/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Combinada , Diagnóstico Diferencial , Feminino , Virilha , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Doença de Paget Extramamária/diagnóstico por imagem , Doença de Paget Extramamária/patologia , Doença de Paget Extramamária/terapia , Períneo , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Tomografia Computadorizada por Raios XAssuntos
Aspirina/administração & dosagem , Quinazolinas/administração & dosagem , Úlcera Cutânea/tratamento farmacológico , Pele/patologia , Trombocitemia Essencial/complicações , Medula Óssea/patologia , Relação Dose-Resposta a Droga , Quimioterapia Combinada/métodos , Humanos , Janus Quinase 2/genética , Cariotipagem , Masculino , Pessoa de Meia-Idade , Mutação , Necrose , Reepitelização/efeitos dos fármacos , Pele/irrigação sanguínea , Úlcera Cutânea/diagnóstico , Úlcera Cutânea/etiologia , Úlcera Cutânea/patologia , Trombocitemia Essencial/diagnóstico , Trombocitemia Essencial/tratamento farmacológico , Trombocitemia Essencial/genética , Dedos do Pé , Resultado do TratamentoRESUMO
X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is characterized by sparse hair, abnormal teeth and decreased sweating as a result of abnormal development of the sweat glands. Mutations in the ED1 gene, which encodes ectodysplasin-A (EDA), are responsible for XLHED. Ectodysplasin-A, a ligand for the EDA receptor, plays an important role in epidermal morphogenesis. We identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese XLHED families. Data from all reported mutations revealed that codon 156 in the furin subdomain is the most frequent site of change in EDA.
Assuntos
Displasia Ectodérmica/genética , Proteínas de Membrana/genética , Mutação , Sequência de Bases , Cromossomos Humanos X/genética , DNA/genética , Análise Mutacional de DNA , Ectodisplasinas , Feminino , Ligação Genética , Genótipo , Humanos , Japão , Masculino , Linhagem , FenótipoRESUMO
X-linked hypohidrotic ectodermal dysplasia (XLHED; MIM 305100) is characterized by the absence or hypoplasia of hair, teeth, and sweat glands. The ED1 gene was identified as a responsive gene for XLHED. The patients were 2 Japanese brothers. Both had the same mutation in exon 1 of the ED1 gene, i.e. C deletion at nucleotide 49, which induced a frameshift starting from amino acid 17 and made a stop codon at amino acid 56, encoding the transmembrane site. The mutation caused the extracellular domain of ectodysplasin A to be completely absent. Their mother had a heterozygous allele; she congenitally lacked 1 tooth, and incisors appeared conical in form.
Assuntos
Displasia Ectodérmica/genética , Mutação da Fase de Leitura , Doenças Genéticas Ligadas ao Cromossomo X/genética , Proteínas de Membrana/genética , Pré-Escolar , Displasia Ectodérmica/patologia , Ectodisplasinas , Feminino , Heterozigoto , Humanos , Recém-Nascido , Masculino , Pele/patologiaRESUMO
BACKGROUND: Most estrogen dermatitides are induced by local or systemic contact dermatitis where dendritic cells are central, and tamoxifen has a blocking effect on dendritic cells. METHODS: We present 5 cases of estrogen dermatitis in which the clinical features were prurigo, urticaria, acneiform eruption and annular erythema. RESULTS: Tamoxifen was effective in 3 of 4 cases. Three of 4 biopsy specimens showed the formation of Langerhans cell nests in the epidermis and hair follicles and perivascular infiltration of CD4+ and CD8+ lymphocytes in the dermis. CONCLUSION: These results suggest that a dendritic-cell-mediated allergic mechanism is involved in estrogen dermatitis.