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 ?
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
Individuals exhibiting piebaldism also had been previously described (Hansen 1965a, 1965b), as had melanistic bighorn sheep (O'Connor 1974) and others whose coloration was described by Bunch and Nguyen (1982) as "melanistic black".
Piebaldism is a rare autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to mutations of the c-kit gene.
Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development.
This condition differs from vitiligo by its presence from birth, the static nature, and hyperpigmented macules within lesions of piebaldism and on the normal skin, regardless of the specific KIT mutation.
Piebaldism Piebald patterns in skin Autosomal are caused by interference Dominant of the migration of melanocytes during development.
With respect to skin, there are sections on hairiness and hypertrichosis, baldness and testosterone, piebaldism, albinism, skin colour, red hair (and the polymorphisms of the melanocyte-stimulating hormone receptor, MC1R, which cause red hair), and finally supernumerary breasts.
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.
Piebaldism is a skin disease autosomal dominant clinically characterized by white forelock and patches of depigmentation due to congenital absence of melanocytes in affected areas by mutations of the KIT proto-oncogene, which affects the differentiation and migration of melanoblastos.
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.
Since piebaldism is a genetically inherited trait, the condition as well as the pattern of hair color can be passed from one generation to the next.