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.
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.
References in periodicals archive ?
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am.
Keywords: Waardenburg syndrome, piebaldism, dystopia canthorum, synophrys.
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".
Boerkoel, "4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency," American Journal of Medical Genetics, Part A, vol.
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.
(5.) Olsson MJ, Juhlin L - Epidermal sheet grafts for repigmentation of vitiligo and piebaldism. with a review of surgical techniques.
In its mildest form, a minor genetic defect called piebaldism may have poliosis as one of the symptom.
Piebaldism is an autosomal dominant disorder that presents with congenital poliosis and leukoderma, often with hyperpigmented macules noted on both depigmented patches and normal skin.