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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 5.

Treatment of Manifestations in Individuals with Pseudoxanthoma Elasticum (PXE)

Skin Reconstructive surgery 1Reconstructive surgery may be indicated to improve skin changes of the face, neck, axilla, & groin that are causing infection & inflammation.
Eye Current treatment for macular neovascularization, incl intravitreal injection of anti-angiogenic drugs 2Consult a retinal specialist immediately for any distortion in vision or ↓ in visual acuity.
Gastrointestinal Surgical intervention may be indicated for Gl bleeding. 3Avoid use of aspirin & NSAIDs to ↓ risk of GI bleeding.
Vascular Claudication of leg
&/or arm muscles
Per treating vascular clinic/surgeon 4
Stroke Per treating stroke clinic/neurologist
Per treating nephrologist 4
Cardiovascular complications
(angina, MI)
Mgmt of angina &/or prior MI per treating cardiologist/cardiovascular surgeon 5

GI = gastrointestinal; MI = myocardial infarction; NSAIDs = nonsteroidal anti-inflammatory drugs


As directed by a dermatologist or plastic surgeon


Bleeding may be difficult to control without surgery [Dalle & Geboes 2002].


See Anderson et al [2013] for clinical practice guidelines on the management of individuals with peripheral artery disease.


See Fihn et al [2012] and Fihn et al [2014] for clinical practice guidelines on the management of individuals with stable ischemic heart disease.

From: Pseudoxanthoma Elasticum

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