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GTR Home > Conditions/Phenotypes > Piebaldism

Piebaldism

Synonyms
Piebald skin depigmentation
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-Kit, CD117, MASTC, PBT, SCFR, KIT
    Summary: KIT proto-oncogene, receptor tyrosine kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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