Author: V.N. Hiromel de Silva, Dermatology Registrar, Waikato Hospital, Hamilton, New Zealand, 2008.
What is mosaicism?
Mosaicism describes an individual composed of two or more genetically different populations of cells existing side by side within the skin. The two cell lines develop very very early in the life of the embryo.
Many genetic skin disorders reflect cutaneous mosaicism.
There are two major genetic categories:
Functional mosaicism resulting from inactivation of the X chromosome
Genomic mosaicism resulting from autosomal mutation (mutation of one of the 46 non-sexual chromosomes)
What are the different patterns of cutaneous mosaicism?
Five patterns of cutaneous mosaicism have been described.
Some conditions may occur in various mosaic patterns, for example, segmental vitiligo.
Proteus syndrome is an example of mosaicism in which the abnormal AKT1 gene in some cells produces a growth activating protein. Various forms of overgrowth and naevi occur and may progress throughout life.
What is the relationship between Blaschko lines and cutaneous mosaicism?
Cutaneous lesions following Blaschko lines are manifestation of cutaneous mosaicism. They represent lines of division of the two cell lines within the embryonic skin tissue.
But cutaneous mosaicism does not always follow Blaschko lines. This is thought to relate to the time the mosaicism arises during embryonic development.
Frank J, Happle R. Cutaneous mosaicism: right before our eyes. J. Clin. Invest. 117(5): 1216-1219 (2007). doi:10.1172/JCI32111.
Book: Textbook of Dermatology .Ed Rook A, Wilkinson DS, Ebling FJB, Champion RH, Burton JL. Fourth edition. Blackwell Scientific Publications
Mosaic Skin Conditions – pdf handout of Dr Julie Schaffer's lecture at AAD meeting February 2008