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Pseudoxanthoma Elasticum (PXE)

Figure 2.30 A: Pseudoxanthoma elasticum (Courtesy of Dr. Sophie M. Worobec) B: Osteopathia striata (Reprint from Offlah AC, Hall CM. Radiological diagnosis of constitutional disorders of bone. Pediatric Radiology. 2003; 33 (3): 153–61) C: Focal dermal hypoplasia (Reprint from Burgdorf WH, Plewig G, Wolff HH, Landthaler M, eds. Braun-Falco’s Dermatology. 3rd ed. Heidelberg: Springer; 2009)
Figure 2.30
A: Pseudoxanthoma elasticum
(Courtesy of Dr. Sophie M.
Worobec)
B: Osteopathia striata
(Reprint from Offiah AC, Hall
CM. Radiological diagnosis of
constitutional disorders of bone.
Pediatric Radiology. 2003; 33
(3): 153–61)
C: Focal dermal hypoplasia
(Reprint from Burgdorf WH,
Plewig G, Wolff HH,
Landthaler M, eds. Braun-
Falco’s Dermatology. 3rd ed.
Heidelberg: Springer; 2009)
(Figure 2.30A)
  • AR (most common) or AD, ABCC6 gene mutation (transmembrane transporter gene)
  • Fragmented/calcified elastin of skin/eyes/arteries, “plucked chicken” skin on flexures, angioid streaks (rupture in Bruch’s membrane) with retinal hemorrhage, gastric artery hemorrhage, MVP, hypertension, myocardial infarction


 

 

 

 

 

 

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