By Disease Name > Piebaldism

Piebaldism

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autosomal dominant; congenital depigmentation (presents at birth)
white forelock and depigmented macules
characteristic feature = islands of hyperpigmentation  (hyperpigmented macules in white areas and on normal skin)
histology = complete absence of melanocytes
etiology = mutation in c-kit protooncogene C-kit mutation also plays a role in mastocystosis (defect in migration and differentiation of melanoblasts from neural crest)
ddx:
vs. vitiligo (piebaldism) typically spares hands and feet, islands of hyperpigmentation, presents at birth, and the white forelock
vs. Waardenburg sx (piebaldism) lacks heterochromia irides, dystopia acanthorum, congenital sensorineural deafness
bullet - congenital depigmentation with islands of hyperpigmentation, white forelock, from a mutation in c-kit protooncogene