RESUMO
Toxic epidermal necrolysis (TEN) is a life-threatening, immune-mediated reaction, characterized by severe cutaneous and mucosal blisters and erosions. It often presents with flu-like symptoms, followed by a maculopapular, urticarial, purpuric or erythema multiforme-like eruption, which then evolves into blisters and sheet-like erosions. Presentation with pustules, however, is not well described in the English literature, and may lead to delayed diagnosis. We present two unusual cases of TEN that initially presented with pustular lesions.
Assuntos
Eritema Multiforme/patologia , Síndrome de Stevens-Johnson/patologia , Biópsia , Diagnóstico Diferencial , Eritema Multiforme/imunologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Síndrome de Stevens-Johnson/imunologia , Adulto JovemAssuntos
Antifúngicos/uso terapêutico , Dermatoses Faciais/microbiologia , Doenças dos Suínos/transmissão , Tinha/transmissão , Zoonoses/transmissão , Idoso , Animais , Dermatoses Faciais/tratamento farmacológico , Feminino , Humanos , Animais de Estimação , Suínos , Doenças dos Suínos/tratamento farmacológico , Tinha/tratamento farmacológico , Tinha/veterináriaAssuntos
Complicações na Gravidez/patologia , Prurido/patologia , Dermatopatias Vesiculobolhosas/patologia , Adulto , Anti-Inflamatórios/uso terapêutico , Biópsia , Feminino , Humanos , Prednisolona/uso terapêutico , Gravidez , Complicações na Gravidez/tratamento farmacológico , Prurido/tratamento farmacológico , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Resultado do TratamentoRESUMO
BACKGROUND: It is unclear whether clinical features of pemphigoid gestationis (PG), such as timing of onset and severity, may affect pregnancy outcomes or whether the adverse outcomes in pregnancies complicated by PG are related to or worsened by systemic corticosteroid treatment. OBJECTIVES: To evaluate the associations of adverse pregnancy outcomes with clinical features, autoantibody titre of PG, and systemic corticosteroid treatment. METHODS: We conducted a retrospective cohort study recruiting 61 pregnancies complicated by PG from the St John's Institute of Dermatology database which enrolled cases from dermatologists across the U.K., and two tertiary hospitals in the U.K. and Taiwan. Outcome measures included gestational age at delivery, preterm birth, birthweight, low birthweight (LBW, i.e. birthweight < 2500 g), small-for-gestational-age (i.e. birthweight below the 10th percentile for gestational age), fetal loss, congenital malformation, and mode of delivery. RESULTS: After controlling for maternal age and comorbidity, decreased gestational age at delivery was significantly associated with presence of blisters (P = 0.017) and disease onset in the second trimester (P = 0.001). Reduced birthweight was significantly associated with disease onset in the first and second trimesters (P = 0.030 and 0.018, respectively) as was also LBW [adjusted odds ratio (95% confidence interval) 13.71 (1.22-154.59) and 10.76 (1.05-110.65), respectively]. No significant associations of adverse pregnancy outcomes with autoantibody titre or systemic corticosteroid treatment were found. CONCLUSIONS: Onset of PG in the first or second trimester and presence of blisters may lead to adverse pregnancy outcomes including decreased gestational age at delivery, preterm birth, and LBW children. Such pregnancies should be considered high risk and appropriate obstetric care should be provided. Systemic corticosteroid treatment, in contrast, does not substantially affect pregnancy outcomes, and its use for PG in pregnant women is justified.
Assuntos
Vesícula/patologia , Penfigoide Gestacional/patologia , Resultado da Gravidez , Adulto , Estudos de Coortes , Feminino , Idade Gestacional , Glucocorticoides/uso terapêutico , Humanos , Hidrocortisona/uso terapêutico , Recém-Nascido de Baixo Peso , Recém-Nascido , Análise Multivariada , Penfigoide Gestacional/tratamento farmacológico , Prednisolona/uso terapêutico , Gravidez , Nascimento Prematuro/patologia , Estudos Retrospectivos , Fatores de Risco , Taiwan , Reino UnidoAssuntos
Acne Vulgar/tratamento farmacológico , Medicina Aeroespacial/normas , Fármacos Dermatológicos , Isotretinoína , Guias de Prática Clínica como Assunto , Acuidade Visual/efeitos dos fármacos , Adulto , Contraindicações , Humanos , Masculino , Teratogênicos , Resultado do Tratamento , Reino UnidoAssuntos
Anti-Inflamatórios/efeitos adversos , Toxidermias/etiologia , Prednisolona/efeitos adversos , Psoríase/induzido quimicamente , Doença Aguda , Artrite/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Toxidermias/patologia , Feminino , Humanos , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
Giant congenital pigmented naevi and neurofibromatosis (NF-1) may rarely occur together. We report an unusual case where extensive congenital melanocytic naevi were associated with neurofibroma-like lesions that were clinically and histologically confused with neurofibromatosis. The development of malignant melanomas within the pigmented and pendulous lesions representing multiple congenital melanocytic naevi highlights the importance of an accurate diagnosis and a close follow-up of such patients.
Assuntos
Melanoma/patologia , Neoplasias Primárias Múltiplas/congênito , Neoplasias Primárias Múltiplas/patologia , Neurofibroma/patologia , Nevo Pigmentado/congênito , Neoplasias Cutâneas/congênito , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologiaRESUMO
Concerns were raised in our department when four of our patients receiving PUVA treatment developed internal malignancy. We reviewed the medical and phototherapy case notes of patients who received either systemic or bath PUVA therapy in our department between 1986 and 1999. Among the 197 patients for whom we were able to trace the hospital records we identified five patients with internal malignancies. Over the same period (1986-1999) we calculated, using the Kaplan-Meier nonparametric estimator, that 4.6 cases of internal malignancy would have been anticipated in our study population. Therefore PUVA therapy did not appear to be a risk factor for internal malignancy.
Assuntos
Neoplasias/induzido quimicamente , Terapia PUVA/efeitos adversos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Inglaterra/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Psoríase/tratamento farmacológico , Estudos Retrospectivos , Fatores de Risco , Análise de SobrevidaRESUMO
Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a number of germline FH mutations from MCUL patients. In this study, we report additional FH mutations in MCUL and FH deficiency patients. Mutations can readily be found in about 75% of MCUL cases and most cases of FH deficiency. Some of the more common FH mutations are probably derived from founding individuals. Protein-truncating FH mutations are functionally null alleles. Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enzyme's active site or activation site; we predict that these mutations severely compromise enzyme function. The mutation spectra in FH deficiency and MCUL are similar, although in the latter mutations tend to occur earlier in the gene and, perhaps, are more likely to result in a truncated or absent protein. We have found that not all mutation-carrier parents of FH deficiency children have a strong predisposition to leiomyomata. We have confirmed that renal carcinoma is sometimes part of MCUL, as part of the variant hereditary leiomyomatosis and renal cancer (HLRCC) syndrome, and have shown that these cancers may have either type II papillary or collecting duct morphology. We have found no association between the type or site of FH mutation and any aspect of the MCUL phenotype. Biochemical assay for reduced FH functional activity in the germline of MCUL patients can indicate carriers of FH mutations with high sensitivity and specificity, and can detect reduced FH activity in some patients without detectable FH mutations. We conclude that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.
Assuntos
Fumarato Hidratase/genética , Neoplasias Renais/genética , Leiomiomatose/genética , Mutação , Neoplasias Cutâneas/genética , Neoplasias Uterinas/genética , Erros Inatos do Metabolismo dos Aminoácidos/genética , Sequência de Aminoácidos , Estabilidade Enzimática , Feminino , Fumarato Hidratase/química , Fumarato Hidratase/deficiência , Fumarato Hidratase/metabolismo , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Neoplasias Renais/secundário , Leiomiomatose/patologia , Dados de Sequência Molecular , Conformação Proteica , Estabilidade de RNA , RNA Mensageiro/metabolismo , Homologia de Sequência de Aminoácidos , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/patologiaRESUMO
We describe the unusual development of multiple cutaneous plasmacytomas following treatment of IgA lambda myeloma with myeloablative therapy and a peripheral blood stem cell autograft. Cutaneous metastatic spread was evident despite bone marrow remission. Treatment with an autograft may have contributed to the cutaneous relapse.