Inherited mutations of ENPP1 in diseases such as generalized arterial calcification of infancy (GACI), hypophosphatemic rickets and pseudoxanthoma
elasticum, result in increased calcification of the arteries and other tissues that can lead to increased morbidity and early mortality.
for familial colonic polyposis, [4,5] porphyria variegata,  progressive familial heart block,  Huntington's disease (HD),  osteogenesis imperfecta,  pseudoxanthoma
elasticum (PXE),  schizophrenia,  long QT syndrome [12,13] and Fanconi's anaemia.
PXE, also known as pseudoxanthoma
elasticum, affects only around 1500 people in the UK.
Finally, perforating disorders with transepidermal elimination of elastin (elastosis perforans serpiginosa, perforating folliculitis, perforating pseudoxanthoma
elasticum) may resemble HLE, but these lesions contain neutrophils and histiocytes with fewer lymphocytes and typically do not demonstrate vacuolar interface changes (Figure 7, B).
Posk has brought her project to fruition despite suffering from a disease known as PXE, or pseudoxanthoma
elasticum, which has left her legally blind.
Mum-of-one Dawn Thomas, aged 44, of Branston, Burton-on-Trent, Staffordshire, has lost most of the sight in her left eye while her other one is at risk because she suffers from Pseudoxanthoma
Elasticum (PXE), a hereditary disorder.
connective tissue known as pseudoxanthoma
Finally, BM is passively or actively involved in a range of other retinal disorders, such as pseudoxanthoma
elasticum (PXE), Sorsby's fundus dystrophy and malattia leventinese.
108) More recently, a group of patients suffering from the rare genetic disorder pseudoxanthoma
elasticum ("PXE") banded together to form PXE International.
Hyperreactivity of pseudoxanthoma
elasticum-affected dermis to vitamin D3.
Histomorphometric parameters and susceptibility to neutrophil elastases degradation of : elastic fibers from healthy individuals and patients with Marfan syndrome, Ehlers Danlos type IV, and pseudoxanthoma
Stewart Bradley, 50, had the inherited disorder Pseudoxanthoma
elasticum (PXE), which causes fragmentation and mineralisation of elastic fibres in some tissues.