Cutaneous mosaicisms: concepts, patterns and classifications.
A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.
University of Brasilia, BrasiliaDF.
Samara Silva
SS
Kouzak
Marcela Sena Teixeira
MS
Mendes
Izelda Maria Carvalho
IM
Costa
D006801:Humans; D009030:Mosaicism / Q000145:classification*; D010859:Pigmentation Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology; D013577:Syndrome