Article
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
The Journal of investigative dermatology - 1 Mar 2007
Vanakker Olivier M, Martin Ludovic, Gheduzzi Dealba, Leroy Bart P, Loeys Bart L, Guerci Veronica I, Matthys Dirk, Terry Sharon F, Coucke Paul J, Pasquali-Ronchetti Ivonne, De Paepe Anne
Abstract excerpt
Data on six patients with a Pseudoxanthoma Elasticum (PXE)-like phenotype, characterized by excessive skin folding (resembling cutis laxa) and a deficiency of the vitamin K-dependent clotting factors (II, VII, IX, and X) are presented. A comparison is made between the clinical, ultrastructural, and molecular findings in these patients and those seen in classic PXE and cutis laxa, respectively. Clinical overlap...
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