Author: Teixeira, L R; Chahud, F; Simão, J C L; Souza, C S; Motta, A C F
Title: Cutaneous and oral manifestations of pseudoxanthoma elasticum: clinicopathological features of an uncommon disorder. Cord-id: xv3si5po Document date: 2020_12_30
ID: xv3si5po
Snippet: Pseudoxanthoma elasticum (PXE), also called Grönblad-Strandberg syndrome, is an autosomal recessive disease associated to mutations in the ABCC6 (adenosine triphosphate-binding cassette subfamily C member 6) gene. It is characterized by generalized disorders due to accumulation and ectopic calcification in the extracellular matrix (ECM) causing degenerative alterations of tissues rich in elastic fibers, through pathogenic mechanisms not fully elucidated.
Document: Pseudoxanthoma elasticum (PXE), also called Grönblad-Strandberg syndrome, is an autosomal recessive disease associated to mutations in the ABCC6 (adenosine triphosphate-binding cassette subfamily C member 6) gene. It is characterized by generalized disorders due to accumulation and ectopic calcification in the extracellular matrix (ECM) causing degenerative alterations of tissues rich in elastic fibers, through pathogenic mechanisms not fully elucidated.
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