Unknown

Dataset Information

0

Pseudoxanthoma elasticum.


ABSTRACT: Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable phenotypic variability. The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE largely depends on the extent of extracutaneous organ involvement early recognition, intervention and lifestyle adjustments are important to reduce morbidity. First-degree family members should be carefully examined for any cutaneous or ophthalmologic features of PXE.

SUBMITTER: Laube S 

PROVIDER: S-EPMC1720489 | biostudies-other | 2005 Jul

REPOSITORIES: biostudies-other

altmetric image

Publications

Pseudoxanthoma elasticum.

Laube S S   Moss C C  

Archives of disease in childhood 20050701 7


Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable phenotypic variability. The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE largely depe  ...[more]

Similar Datasets

2015-06-10 | E-NASC-76 | ExpressionAtlas
2015-06-10 | E-NASC-75 | ExpressionAtlas
2024-02-24 | E-GTEX-8 | ExpressionAtlas
2019-07-15 | E-GEUV-1 | ExpressionAtlas
2015-08-27 | E-ATMX-26 | ExpressionAtlas
2014-07-03 | E-ATMX-34 | ExpressionAtlas
2014-08-01 | E-MAXD-6 | ExpressionAtlas
2014-10-08 | E-CBIL-26 | ExpressionAtlas
2015-08-27 | E-ATMX-25 | ExpressionAtlas
2014-07-03 | E-MIMR-461 | ExpressionAtlas