Piebaldism in Adult
Alerts and Notices
SynopsisPiebaldism 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
Differential Diagnosis & Pitfalls
- 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 syndrome – Ocular pain, loss of vision, and hair loss with vitiligo.
Piebaldism in Adult