Variants
Sign InSign Up

Partial albinism

Your Results

Sign In

Description

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

137

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    172800

  • Orphanet

    2884

  • Medgen

    C0080024

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.