ADOPA

Contacto

C/ Santiago 702, Zona Universitaria, República Dominicana

Redes sociales

Publicado: 12/24/2024

DOI: https://doi.org/10.58994/adopa.v2i3.48

Piebaldismo. Leucodermia rara, a propósito de un caso en recién nacido del Hospital Regional Universitario San Vicente De Paul, San Francisco de Macorís

Cómo citar

1.
Garabot Morel Ángel F, Lora Ortega GM, Báez LY. Piebaldismo. Leucodermia rara, a propósito de un caso en recién nacido del Hospital Regional Universitario San Vicente De Paul, San Francisco de Macorís. ADOPA. 2024;2(3):63-72. Disponible en: http://adopa.pediatriadominicana.org/index.php/adopa/article/view/48

Resumen

Piebaldism is a hereditary skin disease characterized by the presence of a white streak in the hair from birth. Also due to the appearance of the skin area with little pigmentation or depigmented. It is one of the less common skin diseases and is also called “partial albinism”. Hereditary disease, where the genetic defect has been found in the kit gene (chromosome

Abstract

Piebaldism is a hereditary skin disease characterized by the presence of a white streak in the hair from birth. Also due to the appearance of the skin area with little pigmentation or depigmented. It is one of the less common skin diseases and is also called “partial albinism”. Hereditary disease, where the genetic defect has been found in the kit gene (chromosome

Referencias

Cabrera Domínguez NB, Breto Rodríguez G, Castro Márquez M, Torres Mirka R, Milián Casanova RI. Piebaldismo en un recién nacido. Leucodermia rara. Rev Ciencias Médicas [Internet]. 2013;17(1):92-9. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942013000100010&lng=es.

Guerra L, et al. Permanent repigmentation of piebaldism by erbium: YAG laser and autologous cultured epidermis. British Journal of Dermatology. 2004;150(4):715-21.

Bondanza S, et al. Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. The Journal of Investigative Dermatology. 2007;127(3):676-86. doi: 10.1038/sj.jid.5700639.

Medic S, Ziman M. PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas). PLoS One. 2010;5(4):e9977. doi: 10.1371/journal.pone.0009977.

Valdivielso-Ramos M, et al. Piebaldismo. Acta Pediátrica Española; 2011;69(10).

Licourt Otero D, Pereda Chávez H, Pérez Expósito Y, Fernández Hernández LM. Piebaldismo: un desorden de la pigmentación. Presentación de un caso. Rev Ciencias Médicas [Internet]. 2012;16(2):247-54. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942012000200020&lng=es.

Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Seminars in Cutaneous Medicine and Surgery. 1997;16(1):15-23.

Ward KA, Moss C, Sanders DSA. Human piebaldism: relationship between phenotype and site of KIT gene mutation. British Journal of Dermatology. 1995;132(6):929-35.

Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995;56(1):58-66. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801299/.

Morata Alba J, Tarragón Cros A. ¿En qué pensar ante una leucodermia y poliosis desde el nacimiento? Pediatría Atención Primaria. 2016;18(72):345-8.

Perelló-Alzamora MR, Alonso-San Pablo MT, Unamuno P. Mechón blanco frontal aislado. Diagnóstico y comentario. Piel. 2011;26(10):515-16. doi: 10.1016/j.piel.2011.05.011.

Licencia

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.