Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway

N Nathan, KM Keppler-Noreuil… - Dermatologic …, 2017 - derm.theclinics.com
Mosaicism may occur as a somatic mutation occurring during embryogenesis, resulting in an
organism composed of 2 (or more) genetically distinct cell lineages. 1 The resulting
phenotype depends on the numbers and organization of abnormal cells in relation to normal
cells and how the mutation affects cellular function. 2, 3 When the mutation affects cell
signaling pathways regulating cell growth, apoptosis, or migration, dramatic regional
alterations in the appearance of the skin can occur sometimes with regional overgrowth or …