SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (9)

Piebaldism in Child
Other Resources UpToDate PubMed

Piebaldism in Child

Contributors: Mehdi Rashighi MD, Susan Burgin MD
Other Resources UpToDate PubMed


Piebaldism is a rare disorder of defective melanocyte development and migration during embryogenesis. It is inherited in an autosomal dominant fashion. It may be associated with mutations within the KIT or SNAI2 genes. As with many genetic conditions, novel mutations have been identified within certain ethnic groups, and founder effect may be present in certain countries.

This disease presents with fixed depigmented patches of the skin (leukoderma) and hair (poliosis or white forelock), which are present at birth. Depigmented patches occur on the midline ventral surface (midforehead, chest, and abdomen) and symmetrically on the mid-extremities, but the skin on back, hands, and feet is typically spared. There are no associated retinal pigment abnormalities since this is a melanoblast migration and distribution problem, affecting only the skin. Some case reports have shown associations with Waardenburg syndrome.


E70.39 – Other specified albinism

6479008 – Piebaldism

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Oculocutaneous albinism – Congenital hypopigmentation due to a defect in melanin production in skin; can occur with retinal pigment loss (oculocutaneous albinism) and may occur in association with Chediak-Higashi or Hermansky-Pudlak syndromes.
  • Vitiligo – Small to large well-demarcated areas of depigmentation that can appear at any age; associated with and may be seen with other autoimmune disorders.
  • Waardenburg syndrome – Associated with white forelock, heterochromia (pigment abnormalities of the iris), lateral displacement of the inner canthi, and sensorineural deafness.
  • Hypomelanosis of Ito (mosaicism) – Patterned depigmentation in a swirled or linear distribution represents mosaicism.
  • Nevus depigmentosus
  • Ash leaf spots of Tuberous sclerosis
  • Alezzandrini syndrome – Unilateral facial depigmentation associated with retinal detachment and blindness and hypoacusis in some.
  • Vogt-Koyanagi-Harada syndrome – Ocular pain, loss of vision, and hair loss with vitiligo.

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Reviewed:10/15/2017
Last Updated:11/16/2017
Copyright © 2024 VisualDx®. All rights reserved.
Piebaldism in Child
A medical illustration showing key findings of Piebaldism : Present at birth, Scattered many, White color, Hypopigmented patches
Clinical image of Piebaldism - imageId=1780154. Click to open in gallery.  caption: 'A large depigmented patch with blotches of preserved pigment, on the leg.'
A large depigmented patch with blotches of preserved pigment, on the leg.
Copyright © 2024 VisualDx®. All rights reserved.