ISSN - 0973-0958

Pediatric Oncall Journal


Ketan P Kulkarni.
Department of Pediatrics, PGIMER, Chandigarh, India.

Ketan P Kulkarni, Department of Pediatrics, PGIMER, Chandigarh, India.
A 7 year old male child presented with multiple sharply demarcated hypo-pigmented patches of skin with white hair on anterior scalp and temple. Family history was insignificant. Systemic examination was noncontributory.

What is the diagnosis?

Piebaldism is a congenital disorder characterized by sharply demarcated amelanotic patches most frequently occurring on forehead, anterior scalp {associated with white forelock}, ventral trunk, elbows and knees. The reason for such localized distribution is unknown. It is an autosomal dominant disorder. The reason for isolated presentation in the index patient is unclear and may represent variable expressivity or incomplete penetrance of the gene defect. Mutations in KIT gene have been reported in these patients.

The hypopigmented plaques are a result of permanent localized absence of melanocytes that arises from defective melanoblast migration from neural crest during development.
This benign condition must be distinguished from vitiligo {which is usually progressive and not congenital}, nevus depigmentosus and Waardenburg syndrome.

E-published: May 2009, Vol 6 Issue 5. Art # 26
Compliance with ethical standards
Funding:  None  
Conflict of Interest:  None
Cite this article as:
Kulkarni K P. Piebaldism. Pediatr Oncall J. 2009;6: 34.
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