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October 1996

Pigmentary Patterning as a Clinical Clue of Genetic Mosaicism

Author Affiliations

Departments of Pediatrics and Dermatology Northwestern University Medical School Children's Memorial Hospital #107 2300 Children's Plaza Chicago, IL 60614

Arch Dermatol. 1996;132(10):1234-1235. doi:10.1001/archderm.1996.03890340098016

GENETIC MOSAICISM, in which 2 or more genetically heterogeneous populations of cells arise within the same zygote, commonly manifests in the skin as patterned lesions.1 Particularly distinct among these patterns is that along the lines of Blaschko, thought to represent the pattern of embryologic migration of skin cells.2,3 In contrast to the linear distribution of the lines on the extremities, the S-shaped curves on the abdomen and V-shaped distribution on the central aspect of the back have been explained by the interplay of transverse clonal proliferation from the primitive streak and longitudinal growth and flexion of the embryo during development.1

Based on the chromosomal localization of the underlying gene alteration, mosaic phenotypes may be divided into 2 major subgroups: functional mosaicism and genomic mosaicism. All female patients have functional mosaicism for X-linked genes, with approximately 50% of the cells expressing paternally derived genes and 50% expressing maternally derived genes. Happle4 originally proposed that skin lesions along the lines of Blaschko

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