piebaldism (partial albinism)
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Etiology
- may be associated with:
Pathology
- few or no melanocytes in hypopigmented areas
- defect in migration of melanoblasts from neural crest to ventral skin or failure of melanocytes to differentiate & survive in these areas
Genetics
- autosomal dominant
- mutations within the c-kit gene
Clinical manifestations
- congenital, stable white forelock (patch absence of pigment of scalp hair, giving streaked appearance)
- areas of hypopigmentation containing normally pigmented areas & hyperpigmented macules of various size
- symmetric involvement of the central forehead, ventral trunk & mid regions of upper & lower extremities
Laboratory
More general terms
Additional terms
- Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon
- hypopigmentation
- kit proto-oncogene or white spotting locus [W] gene
- Waardenburg syndrome
- Wood's lamp