Table 1 Alterations found histologically and radiologically in the two PXE patients
Histology | Radiology | |
|---|---|---|
Macroscopically altered skin | Degeneration and calcification of the elastic fibres in the mid and lower dermis | Thickened skin |
Macroscopically normal skin | Degeneration and calcification of the elastic fibres in the septa between the subcutaneous fatty layer | – |
Heart | Degeneration and calcification of elastic fibres mainly underneath the endocardial layer and to a lesser extent in fibrous tissue between the cardiomyocytes | – |
Arteries (lower extremity, gastroepiploic artery) | Both atherosclerotic intimal lesions and calcifications in the medial layer | More or less circumferential calcifications in case of medial calcification, thick dots of calcification in case of intimal calcification |
Arteries (other) | Small scattered calcified elastic fibres in the media and/or internal and external elastic lamina Atherosclerotic intimal lesions | Thick dots of calcification in case of intimal calcification |
Central nervous system | Lacunar infarction | – |
Central nervous system | White matter abnormalities | Non-specific abnormalities in the white matter area |
Central nervous system | Calcification of the small arteries in the area of the globus pallidus and hippocampal area | – |
Kidney | Kidney stone | Kidney stone |
Adrenal gland | Myelolipoma with calcifications and bony transformation | Calcified adrenal gland |
Gallbladder | Gallstones | Gallstones |
Lung | Some degenerated and calcified elastic fibres in the pleura | Thickened pleura |
Oesophagus | Some degenerated and calcified elastic fibres around the oesophagus | – |