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2014, Number 1

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Rev Cubana Pediatr 2014; 86 (1)

Piebaldism, partial albinism in the hair and the skin

Aviña FJA, Hernández ADA

Language: Spanish
References: 11
Page: 93-97
PDF size: 152.70 Kb.


ABSTRACT

Piebaldism is a congenital dominant autosomal disease affecting the hair and the skin. It appears as a hypochromic hair highlight (poliosis) generally located in the front in addition to depigmented skin areas and hypomelanosis. The cause is lack of melanocytes in the affected areas due to protoncogen KIT (kinase tyrosinase receptor) mutation, being tyrosinase mutated in melanoblasts. This is the case of a 4 months-old girl who presented a frontal hypochromic highlight and large inborn achromic spots in her face, her thorax and extremities, which are almost symmetrically distributed and very characteristic in this disease. The differential diagnosis was made by using Waardenburg syndrome, oculocutaneous albinism with ocular effect and Griscelli-Prunieras syndrome that is an immunodeficiency-accompanied albinism.


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