[Pseudoxanthoma elasticum beyond skin, eyes and vessels].
The main clinical manifestations of pseudoxanthoma elasticum (PXE) alter small arteries, the eyes and the skin. At the microanatomical level, the feature in common is an alteration of the elastic fibres that appear dystrophic and in part calcified. The disease is genetically transmitted as an autosomal recessive trait. The gene coding for the MRP6 protein is often mutated. Thus PXE appears as a metabolic disease conveyed by serum.
Blaise
G
G
Service de Dermatologie, CHR Hutois.
Piérard-Franchimont
C
C
Piérard
G E
GE
D001766:Blindness / Q000517:prevention & control; D002318:Cardiovascular Diseases / Q000517:prevention & control; D015785:Eye Diseases, Hereditary / Q000175:diagnosis; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics