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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/06/25 11:27:50」(JST)

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Piebaldism is a rare autosomal dominant disorder of melanocyte development.^[1]^:867 Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead.

Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment altogether.

It may be associated with KIT^[2] or SNAI2.^[3]

References[edit]

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Giebel LB, Spritz RA (October 1991). "Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism". Proc. Natl. Acad. Sci. U.S.A. 88 (19): 8696–9. doi:10.1073/pnas.88.19.8696. PMC 52576. PMID 1717985.
^ Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, et al. (October 2003). "Deletion of the SLUG (SNAI2) gene results in human piebaldism". Am. J. Med. Genet. A 122A (2): 125–32. doi:10.1002/ajmg.a.20345. PMID 12955764.

External links[edit]

DermAtlas 874885248

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1. 遺伝性皮膚症 the genodermatoses
2. 尋常性白斑 vitiligo
3. 色素細胞性母斑（ほくろ）以外の良性色素性皮膚病変 benign pigmented skin lesions other than melanocytic nevi moles

English Journal

Characterization of two novel small molecules targeting melanocyte development in zebrafish embryogenesis.

Chen L, Ren X, Liang F, Li S, Zhong H, Lin S.SourceLaboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, CA, USA.
Pigment cell & melanoma research.Pigment Cell Melanoma Res.2012 Jul;25(4):446-53. doi: 10.1111/j.1755-148X.2012.01007.x. Epub 2012 Jun 1.
Melanocytes are pigment cells that are closely associated with many skin disorders, such as vitiligo, piebaldism, Waardenburg syndrome, and the deadliest skin cancer, melanoma. Through studies of model organisms, the genetic regulatory network of melanocyte development during embryogenesis has been
PMID 22574862

Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds.

Fontanesi L, Scotti E, Russo V.SourceDIPROVAL, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Italy. luca.fontanesi@unibo.it
Animal genetics.Anim Genet.2012 Jun;43(3):250-6. doi: 10.1111/j.1365-2052.2011.02242.x. Epub 2011 Sep 15.
Candidate gene analysis, quantitative trait locus mapping in outbreed and experimental cross-populations and a genomewide association study in Holstein have reported that a few chromosome regions contribute to great variability in the degree of white/black spotting in cattle. In particular, an impor
PMID 22486495

Japanese Journal

A Novel Kit Gene Mutation in CF1 Mice Involved in the Extracellular Domain of the KIT Protein

TAKABAYASHI Shuji,NISHIKAWA Tetsu,KATOH Hideki
Experimental animals 61(4), 435-444, 2012-07-01
… It was concluded that the KitW-Ham mutant may serve as a new model of human piebaldism. …
NAID 10030800556