Piebaldism in a newborn child. A rare leukoderma

Authors

  • Noemí Bárbara Cabrera Domínguez Especialista de Primer Grado en Medicina General Integral y Neonatología. Máster en Atención Integral al Niño. Instructora. Hospital Universitario "Abel Santamaría Cuadrado". Pinar del Río.
  • Ana Gloria Breto Rodríguez Especialista de Primer Grado en Neonatología. Instructora. Máster en Atención Integral al Niño. Hospital Universitario "Abel Santamaría Cuadrado". Pinar del Río.
  • Marelis Castro Márquez Especialista de Primer Grado en Neonatología. Hospital Universitario "Abel Santamaría Cuadrado". Pinar del Río.
  • Mirka Rosa Rosa Torres Díaz Especialista de Primer Grado en Medicina General Integral y Neonatología. Máster en Atención Integral al Niño. Instructor. Hospital Universitario "Abel Santamaría Cuadrado". Pinar del Río.
  • Rita Inés Milián Casanova Especialista de Primer Grado en Neonatología. Hospital Universitario "Abel Santamaría Cuadrado". Pinar del Río.

Keywords:

Piebaldism, Hypopigmentation.

Abstract

Piebaldism is an uncommon genetic defect where anomalies in skin-pigmentation are limited to hair and skin, though some similarities to phenotypes of other diseases have been found. A case of a male, Caucasian newborn child, from non-consanguineous parents with family history of Piebaldism was examined; the child presented a white forelock with patches of hypomelanosis at forehead and trunk. A clinical characterization of this inherited disease was conducted where the genetic defect has been found in kit gene (chromosome 4q12), the assessment involved clinical and genetic studies, reviewing the most recent information of the topic. Photographs of the case were as well presented.

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References

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Published

2013-02-08

How to Cite

1.
Cabrera Domínguez NB, Breto Rodríguez AG, Castro Márquez M, Torres Díaz MRR, Milián Casanova RI. Piebaldism in a newborn child. A rare leukoderma. Rev Ciencias Médicas [Internet]. 2013 Feb. 8 [cited 2025 Aug. 30];17(1):92-9. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/683

Issue

Vol. 17 No. 1 (2013)

Section

CASE REPORTS

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