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Piebaldismo: reporte de un caso y revisión de la literatura
dc.contributor.author | Caballero Moreno, Ligia Mercedes | spa |
dc.contributor.author | Mosquera Sánchez, Hernando | spa |
dc.date.accessioned | 2020-10-27T14:21:36Z | |
dc.date.available | 2020-10-27T14:21:36Z | |
dc.date.issued | 2006-04-02 | |
dc.identifier.issn | 2382-4603 | |
dc.identifier.issn | 0123-7047 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12749/10406 | |
dc.description.abstract | Presentamos el caso de una niña de dos meses de edad con máculas acrónicas en cara, tronco y extremidades y un mechón de pelo blanco frontal presentes desde el nacimiento que corresponde a piebaldismo. El Piebaldismo es una enfermedad de la piel autosómica dominante que se caracteriza clínicamente por un mechón de pelo blanco y áreas de despigmentación debido a ausencia congénita de melanocitos en las zonas afectadas por mutaciones en el gen KIT que afecta la diferenciación y migración de los melanoblastos. Su curso es permanente y estático, es decir no aparecen nuevas lesiones y ocasionalmente surgen áreas de hiperpigmentación dentro de las lesiones acrónicas. Aunque estos pacientes por lo demás están sanos, ésta enfermedad produce repercusión psicosocial y el tratamiento constituye un verdadero reto a veces con resultados poco satisfactorios siendo las nuevas técnicas quirúrgicas con microinjertos de melanocitos autólogos cultivados lo más promisorio en cuanto a repigmentación localizada de las lesiones de piebaldismo.[Caballero LM, Mosquera H. Piebaldismo: reporte de un caso y revisión de la literatura. MedUNAB 2006, 9:72-75].Palabras clave: piebaldismo, leucodermia, poliosis, mechón de pelo blanco. | spa |
dc.format.mimetype | application/pdf | spa |
dc.language.iso | spa | spa |
dc.publisher | Universidad Autónoma de Bucaramanga UNAB | |
dc.relation | https://revistas.unab.edu.co/index.php/medunab/article/view/171/156 | |
dc.relation.uri | https://revistas.unab.edu.co/index.php/medunab/article/view/171 | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/2.5/co/ | |
dc.source | MedUNAB; Vol. 9 Núm. 1 (2006): Linfocitos B, Mortalidad Evitable, Trastornos del sueño; 72-74 | |
dc.subject | Ciencias biomédicas | |
dc.subject | Ciencias de la vida | |
dc.subject | Innovaciones en salud | |
dc.subject | Investigaciones | |
dc.title | Piebaldismo: reporte de un caso y revisión de la literatura | spa |
dc.title.translated | Piebaldism: case report and literature review | eng |
dc.publisher.faculty | Facultad Ciencias de la Salud | spa |
dc.publisher.program | Pregrado Medicina | spa |
dc.type.driver | info:eu-repo/semantics/article | |
dc.type.local | Artículo | spa |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | |
dc.subject.keywords | Health Sciences | eng |
dc.subject.keywords | Medicine | eng |
dc.subject.keywords | Medical Sciences | eng |
dc.subject.keywords | Biomedical Sciences | eng |
dc.subject.keywords | Life Sciences | eng |
dc.subject.keywords | Innovations in health | eng |
dc.subject.keywords | Research | eng |
dc.subject.keywords | Piebaldism | eng |
dc.subject.keywords | Leukoderma | eng |
dc.subject.keywords | Poliosis | eng |
dc.subject.keywords | White forelock | eng |
dc.identifier.instname | instname:Universidad Autónoma de Bucaramanga UNAB | spa |
dc.type.hasversion | Info:eu-repo/semantics/publishedVersion | |
dc.type.hasversion | info:eu-repo/semantics/acceptedVersion | |
dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
dc.relation.references | Hartmann A, Bröcker E, Becker J. Hypopigmentary skin disor-ders. Current treatment pptions and future directions. Drugs 2004; 64:89-107 | spa |
dc.relation.references | Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg 1997; 16:15 | spa |
dc.relation.references | Thomas I, Kihiczak G, Fox M, et al. Piebaldism: an update.Int J Dermatol 2004; 43: 716–9 | spa |
dc.relation.references | Spritz RA. Molecular basis of human piebaldism. J Invest Der-matol 1994; 103 (Suppl. 5): 137S–140S | spa |
dc.relation.references | Murakami T, Fukai K, Oiso N, et al. New KIT mutations in patients with piebaldism. J Dermatol Sci 2004; 35:29-33 | spa |
dc.relation.references | Ward KA, Moss C, Sanders DS. Human piebaldism: relationship between phenotype and site of KIT gene mutation. Br J Dermatol 1995; 132:929–35 | spa |
dc.relation.references | Ezoe K, Holmes SA, Ho L. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet 1995; 56:58-66 | spa |
dc.relation.references | Syrris P, Malik NM, Murday VA. Three novel mutations of the proto-oncogene KIT cause human piebaldism. Am J Med Genet 2000; 95:79–81 | spa |
dc.relation.references | Ortonne J-P, Fitzpatrick TB, Mosher DB, Bahadoran P, Hori Y. Hypomelanoses and hypermelanoses. Fitzpatrick ́s dermatology in general medicine. 6th ed, McGraw-Hill, 2003 | spa |
dc.relation.references | Suga Y, Ikejima A, Matsuba S, et al. Medical pearl: DHA appli-cation for camouflaging segmental vitiligo and piebald lesions. J Am Acad Dermatol 2002; 47:436–8 | spa |
dc.contributor.cvlac | Caballero Moreno, Ligia Mercedes [0001369884] | spa |
dc.subject.lemb | Ciencias médicas | spa |
dc.subject.lemb | Ciencias de la salud | spa |
dc.subject.lemb | Medicina | spa |
dc.identifier.repourl | repourl:https://repository.unab.edu.co | |
dc.description.abstractenglish | We present the case of a two-month-old girl with achronic macules on the face, trunk and extremities and a tuft of white frontal hair present from birth that corresponds to piebaldism. Piebaldism is an autosomal dominant skin disease that is clinically characterized by a patch of white hair and areas of depigmentation due to congenital absence of melanocytes in areas affected by mutations in the KIT gene that affects the differentiation and migration of melanoblasts. Its course is permanent and static, that is, new lesions do not appear and occasionally areas of hyperpigmentation appear within the achronic lesions. Although these patients are otherwise healthy, this disease produces psychosocial repercussions and the treatment constitutes a real challenge, sometimes with unsatisfactory results, with the new surgical techniques with micrografts of cultured autologous melanocytes being the most promising in terms of localized repigmentation of the lesions. piebaldism. [Caballero LM, Mosquera H. Piebaldism: case report and review of the literature. MedUNAB 2006, 9:72-75]. Key words: piebaldism, leukoderma, poliosis, white hair tuft. | eng |
dc.subject.proposal | Piebaldismo | spa |
dc.subject.proposal | Leucodermia | spa |
dc.subject.proposal | Poliosis | spa |
dc.subject.proposal | Mechón de pelo blanco | spa |
dc.type.redcol | http://purl.org/redcol/resource_type/ART | |
dc.rights.creativecommons | Atribución-NoComercial-SinDerivadas 2.5 Colombia | * |
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