Piebaldism

Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.

Also Known As:

Partial Albinism; Piebald Trait; Cutaneous Albinism; Albinism, Cutaneous; Albinism, Partial

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Piebaldism: 75
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Piebaldism: 75
  - Hereditary Eye Diseases: 18
    - Albinism: 486
      - Piebaldism: 75
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Piebaldism: 75
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Piebaldism: 75
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Piebaldism: 75

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Drug/Important Bio-Agent (IBA)