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2013, Number 1

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Rev Ciencias Médicas 2013; 17 (1)

Piebaldism in a newborn child. A rare leukoderma

Cabrera DNB, Breto RAG, Castro MM, Rosa TM, Milián CRI

Language: Spanish
References: 10
Page: 92-99
PDF size: 183.98 Kb.


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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