title: [Pseudoxanthoma elasticum: A disorder with different manifestations].
abstract: BACKGROUND
  Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive inheritable disorder characterized by progressive elastic fibre calcification.
  
  
  METHODS
  Here we describe two patients with different presentations of PXE. Patient A, an 11-year-old girl, visited the dermatologist because of yellow papules (pseudoxanthomas) on the side of her neck. With the aid of a skin biopsy, the dermatologist diagnosed PXE. Some years later, patient A developed symptoms of intermittent claudication due to arterial calcifications. Supervised exercise training diminished these symptoms. Patient B, a 55-year-old man, visited the ophthalmologist due to recent onset of metamorphopsia. The ophthalmologist discovered a subretinal haemorrhage and observed changes in the retina consistent with PXE. Severe loss of vision was prevented by intraocular anti-VEGF injections. Upon further investigation, pseudoxanthomas and arterial calcifications were found.
  
  
  CONCLUSIONS
  PXE is a rare monogenetic disorder with dermatological, ocular and vascular manifestations. With these two case reports we have illustrated how the initial clinical presentation and symptomatology may vary widely.
authors: Universitair Medisch Centrum Utrecht, Utrecht.
authors: T R
authors: TR
authors: Tromp
authors: G
authors: G
authors: Kranenburg
authors: J
authors: J
authors: Ossewaarde-van Norel
authors: W
authors: W
authors: Spiering
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000175:diagnosis*