[Piebaldism].
Piebaldism is a rare, congenital, autosomal dominant inherited pigmentary disorder, characterized by a white forelock and freckled depigmentation of the forehead, chin, ventral trunk and extremities. Normal pigmentation is found on the back, hands and feet. Within the non-pigmented areas, patches of hyperpigmentation are possible. A family with six affected members spanning three generations is presented, which displays the typical traits of this disorder. The clinical signs, genetic aspects and differential diagnosis of piebaldism are briefly reviewed.
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006200:Hair Color; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D012880:Skin Pigmentation
Piebaldismus.