The Role of Genetics Mutations in Genes PORCN, TWIST2, HCCS in Goltz Syndrome

Abstract

Goltz syndrome (focal skin hypoplasia) is a genetic disorder that primarily affects the skin, skeletal system, eyes and face. People with Goltz syndrome have birth defects. These disorders include very thin skin veins (skin hypoplasia), pink yellow nodules, subcutaneous fat, lack of upper skin layers (aplasia cutis), small clusters of superficial skin vessels (telangiectasia), and veins in dark skin Or bright. Goltz syndrome is caused by mutation genes PORCN, TWIST2, HCCS.