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PXE-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Pathology:
- electron microscopic analyzes reveal alterations of elastic fibers as well as their mineralization slightly different from those in classic pseudoxanthoma elasticum
Genetics:
- associated with defects in GGCX
Clinical manifestations:
- hyperlaxity of the skin involving the entire body
- important phenotypic differences with classical pseudoxanthoma elasticum include:
a) much more severe skin laxity with spreading toward the trunk
b) limbs with thick, leathery skin folds rather than confinement to flexural areas
c) no decrease in visual acuity
General
genetic syndrome (multisystem disorder)
genetic disease of the blood/bone marrow
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 610842
References
OMIM :accession 610842