Korean J Dermatol.  2013 Feb;51(2):131-134.

Pseudoxanthoma Elasticum Accompanied with Vitamin K-dependent Coagulation Factor Deficiency

• Kim JY
• Kim JS
• Gye J
• Namkoong S
• Park BC
• Kim M
• Hong SP

Abstract

Pseudoxanthoma elasticum is a multiorgan disorder, characterized by ectopic mineralization of elastic fibers of skin, eyes, and cardiovascular system. The dermatologic manifestations include laxity of skin, as well as cutis laxa-like wrinkling especially on both axillae. The classic forms of pseudoxanthoma elasticum are due to mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, a presumed transmembrane transporter expressed primarily in the liver and the kidneys. Recent case reports of mutations of gamma-glutamyl carboxylase (GGCX) gene describe associations with vitamin K-dependent coagulation factor deficiency and pseudoxanthoma elasticum as well. A 23-year old woman presented with laxity on both axillae and trunk and a history of vitamin K-dependent coagulation factor deficiency, diagnosed 2 years ago. Fragmented and markedly degenerated elastic fibers with calcium deposition were identified on biopsy specimens. Herein, we report a case of autosomal recessive pseudoxanthoma elasticum combined with vitamin K-dependent coagulation factor deficiency.

Keyword

Inheritable disorder; Pseudoxanthoma elasticum; Vitamin K-dependent coagulation factor deficiency

MeSH Terms

Axilla
Biopsy
Blood Coagulation Factors
Calcium
Carbon-Carbon Ligases
Cardiovascular System
Elastic Tissue
Eye
Female
Genes, vif
Humans
Kidney
Liver
Pseudoxanthoma Elasticum
Skin
Vitamins
Blood Coagulation Factors
Calcium
Carbon-Carbon Ligases
Vitamins