Abstract
ObjectivesPseudoxanthoma elasticum (PXE) is a rare genetic disorder, characterised by elastic fibre degeneration and calcifications in multiple organ systems. Computed tomography (CT) imaging is a potential method to monitor disease progression in PXE patients; however, this method has not been validated. The aim of this study was to correlate histological and computed tomographic findings in PXE patients to investigate the ability of CT scanning to detect these alterations.MethodsPost mortem total body CT scans were obtained from two PXE patients (a 69-year-old male and 77-year-old female). Autopsy was performed, and 38 tissue samples of the first and 45 tissue samples of the second patient were extensively investigated histologically. The findings were compared with the CT scans.ResultsDegenerated and calcified elastic fibres and calcifications were histologically found in the skin, subcutaneous fat, heart, arteries and pleura and around the oesophagus. On CT imaging only the intradermal alterations of the skin and the larger vascular calcifications were detected. The smaller PXE-related abnormalities were not visible on CT.ConclusionsWith CT imaging vascular calcifications and skin alterations can be monitored in PXE patients. However, many of the subtle PXE-related abnormalities found in other organ systems during the autopsy were not visualised by CT scans. Furthermore, we extended the current knowledge on the disease location of PXE with subcutaneous, oesophageal and pleural lesions.Teaching Points• CT can be used to monitor gross vascular calcifications in PXE patients.• Many subtle PXE-related abnormalities are not visualised by CT scans.• PXE-related alterations can also be found in oesophagus, pleura and subcutaneous fat.
Highlights
HistologyPseudoxanthoma elasticum (PXE) or Grönblad-Strandberg syndrome is a rare autosomal recessive disorder characterised by ectopic calcifications of connective tissues [1]
Many subtle PXE-related abnormalities are not visualised by Computed tomography (CT) scans
PXE-related alterations can be found in oesophagus, pleura and subcutaneous fat
Summary
Pseudoxanthoma elasticum (PXE) or Grönblad-Strandberg syndrome is a rare autosomal recessive disorder characterised by ectopic calcifications of connective tissues [1]. The disease is, in the majority of cases, caused by mutations in the ABCC6 gene [2–4]. These ABCC6 gene mutations result in lower levels of inorganic pyrophosphate leading to progressive calcification throughout the body [5]. Previous studies have shown that alterations can be found both histologically and radiologically in the skin, testis and blood vessels [6–10]. Histological alterations have been described in the eyes and brain [9–11]. Calcifications have been described juxta-articular, in the soft tissues of the extremities and in the breast [6, 8]
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