Vascular (arterialarrowing)

60%

Can cause claudication, small strokes, intestinal angina, renovascular hypertension, angina /or myocardial infarction

GI bleeding

10%

Most commonly in the upper GI tract Based on Skin. Skin lesions are generally the first sign and are present between the first and second decade of life, but are often not recognized as a sign of PXE. The primary skin lesion is a papule that is somewhat darker than the person's natural skin tone, i.

Hyperphosphatemic familial tumoral calcinosis

AR

Angioid streaks in the retina2

Skin lesions are present in PXE.

—

GGCX

PXE-like disorder w/multiple coagulation factor deficiency (OMIM 610842)

AR

Cutis laxa-like skin changes w/histolopathologic changes of PXE deficiency of vitamin K-dependent clotting factors

No issues w/clotting in PXE HBB

Beta-thalassemia

AR

PXE-like phenotype (skin, eye [angioid streaks in the retina2], cardiovascular)

Although similar, the angioid streaks are not concurrent w/skin lesions.

—

HBB

Sickle thalassemia (See Sickle Cell Disease.)

AR

Angioid streaks in the retina2

Although similar, the angioid streaks are not concurrent w/skin lesions.

LEMD3

Buschke-Ollendorf syndrome (BOS) (OMIM 166700)

AD

Osteopoikilosis assoc w/cutaneous papules w/accumulation of elastin in dermis

On skin biopsy, PXE does not have the same extent of abnormal collagen fibers near the calcified elastic fibers.; The skin lesions in BOS do not calcify histopathologically.; No osteopoikilosis in PXE PDB4 SQSTM1 TNFRSF11A TNFRSF11B

ZNF687

Paget disease of bone (OMIM PS167250)

ADAR

Angioid streaks in the retina2

No skin lesions in Paget disease of bone AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance 1. 2.

Reduced vision

Consultation w/agencies for the visually impaired1

Use of low vision aids2

Gastrointestinal (bleeding, angina)

Obtain past medical history medical records for findings consistent w/these potential complications

Referral to gastroenterologist Vascular

/or arm muscles

Obtain past medical history medical records for findings consistent w/these potential vascular complications

Referral to vascular clinic Stroke

Cardiovascular assessment

Referral to cardiologist for baseline exam

Cardiovascular issues (if present) may be exacerbated by PXE.

Other

Consultation w/clinical geneticist /or genetic counselor

OCT = optical coherence tomography In the US, publicly funded agencies at the state level provide services for the blind or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.

Treatment of Manifestations in Individuals with Pseudoxanthoma Elasticum (PXE) System/Concern

Treatment

Considerations/Other

Skin

Reconstructive surgery1

Reconstructive 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 drugs2

Consult a retinal specialist immediately for any distortion in vision or in visual acuity.

Gastrointestinal

Surgical intervention may be indicated for Gl bleeding.3

Avoid use of aspirin NSAIDs to risk of GI bleeding. Vascular

/or arm muscles

Per treating vascular clinic/surgeon4

—

Stroke

Per treating stroke clinic/neurologist

Renovascular

hypertension

Per treating nephrologist4

Cardiovascular complications

(angina, MI)

Mgmt of angina /or prior MI per treating cardiologist/cardiovascular surgeon5

GI = gastrointestinal; MI = myocardial infarction; NSAIDs = nonsteroidal anti-inflammatory drugs 1. As directed by a dermatologist or plastic surgeon 2. , 3. Bleeding may be difficult to control without surgery . 4.