Genetic and clinical mosaicism in a type of XXXX .

@entity1 @entity5656 @entity7174 @entity74 @entity9397 @entity272 @entity7434
BACKGROUND: Many @entity272 are characterized by a mosaic pattern, often with alternating stripes of affected and unaffected skin that follow the lines of Blaschko. These nonrandom patterns may be caused by a postzygotic mutation during embryogenesis. We studied the genetic basis of one @entity74 , @entity9397 of the epidermolytic hyperkeratotic type. @entity5656 is an @entity272 arising from mutations in the genes for keratin (K) 1 and 10. The offspring of @entity1 with @entity7174 may have generalized @entity5656 . METHODS: We studied the K1 and @entity7434 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three @entity1 with @entity7174 and four of their offspring with @entity5656 . RESULTS: In the @entity1 with @entity7174 , point mutations in 50 percent of the @entity7434 alleles of epidermal cells were found in keratinocytes from lesional skin; no mutations were detected in normal skin. This mutation was absent or underrepresented in blood and skin fibroblasts. In the offspring with @entity5656 , the same mutations as those in the parents were found in 50 percent of the @entity7434 alleles from all cell types examined. CONCLUSIONS: Epidermal nevus of the epidermolytic hyperkeratotic type is a mosaic @entity74 of suprabasal keratin. The correlation of mutations in the @entity7434 gene with lesional skin and the correlation of the normal gene with normal skin provide evidence that genetic mosaicism can cause clinical mosaicism.
