PXE-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
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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:
- much more severe skin laxity with spreading toward the trunk
- limbs with thick, leathery skin folds rather than confinement to flexural areas
- no decrease in visual acuity
More general terms
- genetic syndrome (multisystem disorder)
- genetic disease of the blood/bone marrow
- genetic disease of the skin (genodermatosis)