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Indian Pediatr 2011;48: 665-666

Piebaldism


Vishal Kumar and Manish Kumar

Department of Pediatrics, Maulana Azad Medical College & Associated Chacha Nehru Bal Chikitsalya, 
Geeta Colony, Delhi, India.
Email: vmpd05@yahoo.co.in

 

A seven year old male child was brought to us for fever and was diagnosed to have Plasmodium vivax malaria with anemia and thrombocytopenia. On general examination, he had a white forelock and depigmented patches over the knees and a unique heart shaped depigmented patch over the abdomen. (Fig.1) There were islands of normal skin in the depigmented areas. Family history revealed that the paternal grandfather and three aunts of the patient had similar features suggesting piebaldism.

Piebaldism is inherited as an autosomal dominant condition and is also known as partial albinism. The distribution of the depigmented patches seen in our patient is classically described in literature. These plaques of depigmentation are a result of a permanent localized absence of melanocytes and melanosomes or reduced numbers of abnormally large melanocytes. It results from mutations in the KIT proto-oncogene, which encodes the cellular transmembrane tyrosinase kinase for mast/stem cell growth factor. This pattern of depigmentation is probably due to defective melanocyte proliferation or migration from the neural crest during development. It should be differentiated from vitiligo which is progressive and Waardenberg syndrome which has heterochromic iris, dystopia canthorum, broad nasal root and congenital deafness, in addition to white forelock and hypopigmentation. There are occasional reports of piebaldism associated with type 1 Neurofibromatosis and Rubinstein Taybi syndrome.
 

 

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