Vitamin-K Dependent Protein Deficiency and Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...

Pseudoxanthoma elasticum

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by calcified elastic fibers in cutaneous, ocular, and vascular tissues. PXE is caused by mutations in ABCC6, which encodes a protein of the ATP-driven organic anion transporter family. The inability of this transporter to secrete its substrate into the circulation is the likely cause of PXE. Vitamin K plays a role in the regula...

A case report of temporary and acquired vitamin K-dependent clotting factor deficiency without any response to administrated vitamin K

Abstract Background and Objectives Vitamin K-dependent clotting factor deficiency (VKCFD) is usually an acquired problem due to liver disease, malabsorption, and overdose of warfarin.  In the present paper the significance and role of vitamin K-dependent coagulation factors in menorrhagia were evaluated.   Case We present a rare case of 43 year woman with acquired vitamin K deficiency and se...

Periumbilical perforating pseudoxanthoma elasticum.

A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck. After a burn from a heating device, a few perforating papules and a violaceous hue occurred on the plaque. Histological examination revealed pathological elastic fibers with a keratotic plug and pe...