Assuntos
Dermatomiosite/diagnóstico por imagem , Dermatomiosite/diagnóstico , Pioderma Gangrenoso/diagnóstico por imagem , Pioderma Gangrenoso/diagnóstico , Carcinoma de Pequenas Células do Pulmão/diagnóstico por imagem , Carcinoma de Pequenas Células do Pulmão/diagnóstico , Antibacterianos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Dermatomiosite/tratamento farmacológico , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Minociclina/uso terapêutico , Pioderma Gangrenoso/tratamento farmacológico , Carcinoma de Pequenas Células do Pulmão/tratamento farmacológicoRESUMO
BACKGROUND: Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism. METHODS: A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls. RESULTS: A heterozygous missense mutation c.2590T > C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls. CONCLUSION: A novel missense mutation c.2590 T > C was found and it might play a significant role in the piebaldism phenotype in the family.
Assuntos
Mutação de Sentido Incorreto , Piebaldismo/genética , Proteínas Proto-Oncogênicas c-kit/genética , Criança , Humanos , Masculino , Proteínas Proto-Oncogênicas c-kit/fisiologiaRESUMO
OBJECTIVE: To study the effects of 1alpha,25-dihydroxyvitamin D(3) and UVB on cell proliferation and melanin synthesis of normal human melanocytes. METHODS: Melanocytes of foreskins of healthy men were cultured and treated with various concentration of 1alpha,25-dihydroxyvitamin D(3) or UVB (55 mJ/cm(2)),or both. Cell proliferation was measured with MTT assay .The synthesis of melanin was determined by chromatography. RESULTS: 1alpha,25-dihydroxyvitamin D(3) and UVB could promote the proliferation of cultured melanocyte,and 1alpha,25-dihydroxyvitamin D(3) could promote the melanin synthesis. The significant concentration of 1alpha,25-dihydroxyvitamin D(3) ranging from 10(-7) to 10(-10) mol/L. CONCLUSION: 1alpha,25-dihydroxyvitamin D(3) and UVB irradiation could promote the proliferation of melanocyte,which indicates that they might be effective in the treatment of vitiligo.
