Pseudoxanthoma Elasticum Accompanied with Vitamin K-dependent Coagulation Factor Deficiency / 대한피부과학회지
Korean Journal of Dermatology
;
: 131-134, 2013.
Article
Dans Coréen
| WPRIM
| ID: wpr-183436
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pseudoxanthome élastique
/
Peau
/
Aisselle
/
Vitamines
/
Biopsie
/
Facteurs de la coagulation sanguine
/
Système cardiovasculaire
/
Calcium
/
Gènes vif
/
Carbon-carbon ligases
Type d'étude:
Étude pronostique
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Dermatology
Année:
2013
Type:
Article
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