Congenital Abnormality
piebaldism
Subclass of:
Albinism
Definitions related to piebaldism:
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A rare, autosomal dominant disorder caused usually by mutations in the KIT gene. It is characterized by abnormalities in the development of melanocytes. It presents with multiple symmetrical hypopigmented or depigmented patches of skin and a midline patch of white hair.NCI ThesaurusU.S. National Cancer Institute, 2021
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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.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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(partial albinism) Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical hypopigmented or depigmented macules. This striking phenotype of depigmented patches of skin and hair has been observed throughout history, with the first descriptions dating to early Egyptian,...WebMD, 2019
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Piebaldism is a rare inherited condition characterized by a white forelock (a patch of white hair directly above the forehead). The name piebaldism is derived from the words "pie" (from magpie, which is a black and white bird) and "bald" (from the bald eagle, the US national bird that has a white feathered head). Other features include a...National Center for Advancing Translational Sciences
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