Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (PXEL-MCFD)

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency, also known as body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency, is related to pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa and thalassemia. An important gene associated with Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include skin and neutrophil, and related phenotypes are redundant skin and abnormality of coagulation