Piebaldism: a pigmentary disorder. A case report

Authors

  • Deysi Licourt Otero Especialista de Primer Grado en Medicina General e Integral y Segundo Grado en Genética Clínica. Asistente. Centro Provincial de Genética de Pinar del Río.
  • Hernán Pereda Chávez Especialista de Primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Instructor. Policlínico Universitario "Epifanio Rojas Gil". Servicio Municipal para el desarrollo de la Genética. San Luís, Pinar del Río.
  • Yesenia Pérez Expósito Licenciada en Enfermería. Máster en Asesoramiento Genético. Policlínico Universitario "Epifanio Rojas Gil". Servicio Municipal para el desarrollo de la Genética. San Luís, Pinar del Río.
  • Ledys Mabel Fernández Hernández Especialista de Primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Policlínico Universitario "Epifanio Rojas Gil". Servicio Municipal para el desarrollo de la Genética. San Luís, Pinar del Río.

Keywords:

PIEBALDISM/diagnosis, genetics, etiology. PARTIAL ALBINISM/genetics, diagnosis.

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.

Downloads

Download data is not yet available.

References

1. 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

2. Matsunaga H, Tanioka M, Utani A, Miyachi Y. Familial case of piebaldism with regression of white Forelock. Clin Exp Dermatol [serie en Internet]. Mar 2008 [citado 10 Ene 2012]; 33(4): [aprox. 2 pantallas]. Disponible en: http://dx.doi.org/10.1111/j.1365-2230.2008.02703.x

3. 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

4. Piebald Trait PBT [Internet]. OMIM: Johns Hopkins University. [citado 10 Ene 2012]. Disponible en: http://omim.org/entry/172800

5. Leech SN, Moss C. A current and online genodermatosis database. Br J Dermatol [serie en Internet]. Jun 2007 [citado 10 Ene 2012]; 156(6): [aprox. 34 pantallas]. Disponible en: http://dx.doi.org/10.1111/j.1365-2133.2007.07834.x

6. Mollet I, Ongenae K, Naeyaert JM. Origin, clinical presentation and diagnosis of hypomelanotic skin disorders. Dermatol Clin [serie en Internet]. Jul 2007 [citado 10 Ene 2012]; 25(3): [aprox. 9 pantallas]. Disponible en: http://www.sciencedirect.com/science/article/pii/S0733863507000411

7. 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

8. Domínguez Hernández M, León García Y, Fleites Rumbaut M, Lugo Pérez A. Piebaldismo. Presentaciones de casos. Folia Dermatología Cubana [serie en Internet]. 2010 [citado 10 Ene 2012]; 4(1): [aprox. 2 pantallas]. Disponible en: http://www.bvs.sld.cu/revistas/fdc/vol4_1_10/fdc03210.htm

9. Vieira da Silva PC, Rangel P, Couto A. Síndrome de Waardenburg tipo I: relato de caso. Arq Bras Oftalmol [serie en Internet]. 2011 [citado 10 Ene 2012]; 74(3): [aprox. 2 pantallas]. Disponible en: http://www.scielo.br/pdf/abo/v74n3/13.pdf

10. 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

Downloads

Published

2012-05-04

How to Cite

1.
Licourt Otero D, Pereda Chávez H, Pérez Expósito Y, Fernández Hernández LM. Piebaldism: a pigmentary disorder. A case report. Rev Ciencias Médicas [Internet]. 2012 May 4 [cited 2025 Aug. 30];16(2):247-54. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/907

Issue

Vol. 16 No. 2 (2012)

Section

CASE REPORTS

License

Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.

Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/