Piebaldism

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Piebaldism
Classification and external resources
ICD-10 E70.3 (ILDS E70.350)
ICD-9 709.09
OMIM 172800
DiseasesDB 29295
eMedicine derm/689
MeSH D016116

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]

See also[edit]

References[edit]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ 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. 
  3. ^ 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. 

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