2012, Number 2
Piebaldism: a pigmentary disorder. A case report
Language: Spanish
References: 10
Page: 247-254
PDF size: 238.35 Kb.
ABSTRACT
A child presenting a pigmentary disorder in the skin attended to the genetic office, the patient has a familial history with the same entity. Through the preparation of the clinical chart, family tree was examined; Piebaldism was mainly diagnosed by physical examination. Since this is a rare entity, a medical literature revision was carried out.REFERENCES
Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Experimental Dermatology [serie en Internet]. Jun 2009 [citado 10 Ene 2012]; 18(9): [aprox. 9 pantallas]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1111/j.1600-0625.2009.00896.x/pdf
Haase S, Brooks SA, Tozaki T, Burger D, Poncet PA, Rieder S, et al. Seven novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics [serie en Internet]. May 2009 [citado 10 Ene 2012]; 40(5): [aprox. 7 pantallas]. Disponible en: http://dx.doi.org/10.1111/j.1365-2052.2009.01893.x
Perelló Alzamora MR, Alonso San Pablo MT, Unamuno P. Mechón blanco frontal aislado. Diagnóstico y comentario. Piel [serie en Internet]. 2011 [citado 10 Ene 2012]; 26(10): [aprox. 2 pantallas]. Disponible en: http://www.elsevier.es/es/revistas/piel-formacion-continuada-dermatologia-21/mechon-blanco-frontal-aislado-diagnostico-comentario-90039495-casos-diagnostico-soluciones-2011
Kozawa M, Kondo H, Tahira T, Hayashi K, Uchio E. Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration. Eye (Lond) [serie en Internet]. 2009 [citado 10 Ene 2012]; 23 (7): [aprox. 3 pantallas]. Disponible en: http://www.nature.com/eye/journal/v23/n7/pdf/eye2008256a.pdf