Pseudoxanthoma elasticum.
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.
Laube
S
S
Department of Dermatology, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK. slaube@doctors.org.uk
Moss
C
C
D002318:Cardiovascular Diseases / Q000175:diagnosis; D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D012871:Skin Diseases / Q000175:diagnosis
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human