Pseudoxanthoma Elasticum Accompanied with Vitamin K-dependent Coagulation Factor Deficiency.
- Author:
Jee Young KIM
1
;
Ji Seok KIM
;
Jiwon GYE
;
Sun NAMKOONG
;
Byung Cheol PARK
;
Myunghwa KIM
;
Seung Phil HONG
Author Information
1. Department of Dermatology, Dankook University College of Medicine, Cheonan, Korea. zamoo97@medimail.co.kr
- Publication Type:Case Report
- Keywords:
Inheritable disorder;
Pseudoxanthoma elasticum;
Vitamin K-dependent coagulation factor deficiency
- MeSH:
Axilla;
Biopsy;
Blood Coagulation Factors;
Calcium;
Carbon-Carbon Ligases;
Cardiovascular System;
Elastic Tissue;
Eye;
Female;
Genes, vif;
Humans;
Kidney;
Liver;
Pseudoxanthoma Elasticum;
Skin;
Vitamins
- From:Korean Journal of Dermatology
2013;51(2):131-134
- CountryRepublic of Korea
- Language:Korean
-
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.
