Abstract

CABRERA DOMINGUEZ, Noemí Bárbara et al. Piebaldism in a newborn child. A rare leukoderma. Rev Ciencias Médicas [online]. 2013, vol.17, n.1, pp. 92-99. ISSN 1561-3194.

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.

Keywords : Piebaldism; Hypopigmentation.

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