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piebaldism (partial albinism)

Etiology: -> may be associated with: a) Hirschsprung's disease b) Waardenburg's syndrome Pathology: 1) few or no melanocytes in hypopigmented areas 2) defect in migration of melanoblasts from neural crest to ventral skin or failure of melanocytes to differentiate & survive in these areas Genetics: 1) autosomal dominant 2) mutations within the c-kit gene Clinical manifestations: 1) congenital, stable white forelock (patch absence of pigment of scalp hair, giving streaked appearance) 2) areas of hypopigmentation containing normally pigmented areas & hyperpigmented macules of various size 3) symmetric involvement of the central forehead, ventral trunk & mid regions of upper & lower extremities Laboratory: 1) Wood's lamp -> enhancement of leukoderma & hyperpigmented macules 2) skin biopsy

Related

Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon hypopigmentation kit proto-oncogene or white spotting locus [W] gene Waardenburg syndrome Wood's lamp

General

genetic disease of the skin (genodermatosis) pigmentation disorder

Database Correlations

OMIM 172800

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 296
  2. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995