Abstract
Pseudoxanthoma elasticum (PXE) is a rare inherited autosomal recessive disorder of connective tissue that typically presents in the second decade of life. It leads to progressive cutaneous, ocular and cardiovascular manifestations due to calcification. We report two sisters with PXE diagnosed in their teenage years and review the genetics, pathogenesis and multisystem associations. Comprehensive management to mitigate atherosclerotic risk factors and identify emerging sequelae is important to minimise the disease burden.
Original language | English |
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Pages (from-to) | 155-160 |
Number of pages | 6 |
Journal | European Journal of Pediatric Dermatology |
Volume | 31 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2021 |