piebaldism


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piebaldism

 [pi´bawld-izm]
a congenital autosomal dominant pigmentary disorder of the skin due to absence of functioning melanocytes and melanin, resulting in patchy areas of depigmentation or hypopigmentation, often occurring in association with white forelock.

pie·bald·ism

(pī-bawld'izm), [MIM*172800]
Patchy absence of the pigment of scalp hair, giving a streaked appearance; patches of vitiligo may be present in other areas due to absence of melanocytes; often transmitted as an autosomal dominant trait caused by mutation in the KIT protooncogene on 4q and may be associated with neurologic defects [MIM*172850] or eye changes [MIM*172870]. Compare: Waardenburg syndrome.

piebaldism

/pie·bald·ism/ (pi-bawld´izm) a condition in which the skin is partly brown and partly white, as in partial albinism and vitiligo.
A striking focal depigmentation of hair of the anterior scalp margin, which has no clinical significance, and is typically seen in the Waardenburg syndrome, which is characterised by leukoderma, a flattened nasal bridge and cochlear deafness, see there. It may also be seen in tuberous sclerosis and Vogt-Koyanagi syndrome

pie·bald·ness

(pī'bawld-nĕs)
Patchy absence of the pigment of scalp hair, giving a streaked appearance; patches of vitiligo may be present in other areas due to the absence of melanocytes. May be associated with neurologic defects or eye changes.
Synonym(s): piebald skin, piebaldism.

piebaldism

1. VITILIGO.
2. Partial ALBINISM.
3. A rare hereditary disease in which there are patchy areas of skin with no pigment.

piebaldism

a condition in which the skin is partly brown and partly white, as in partial albuminism and vitiligo. See also waardenburg's syndrome.
References in periodicals archive ?
Because the phenotype of WS resembles several other genetic and physical conditions such as albinism, piebaldism, and vitiligo, these conditions are also summarized and compared to WS in the text.
Results of the first long-term study of autologous melanocyte transplantation for pigment disorders, such as vitiligo and piebaldism, show that treatment benefits are sustained for some patients, according to researchers at the University of Uppsala in Sweden.
Chong KL, Common JE, Lane EB, Goh BK: A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype.