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      Pseudoxanthoma elasticum.

      Archives of Disease in Childhood

      Cardiovascular Diseases, diagnosis, Child, Chromosomes, Human, Pair 16, genetics, Eye Diseases, Humans, Multidrug Resistance-Associated Proteins, Pseudoxanthoma Elasticum, pathology, therapy, Skin Diseases

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          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.

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          Author and article information

          Journal
          15970621
          1720489
          10.1136/adc.2004.062075

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