PSEUDOXANTHOMA ELASTICUM

By Gary M. White, MD


Pseudoxanthoma elasticum


Pseudoxanthoma elasticum (PXE) is a rare heritable disorder resulting in the progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Mutations in the ATP-binding cassette gene, ABCC6 (MRP6) gene on chromosome 16 which encodes a transmembrane transporter protein have been shown to cause PXE. Both AR and AD inheritance forms are reported. The skin changes are most commonly noted in the second decade of life, although this condition is probably under diagnosed as the skin changes are often subtle. Systemic involvement of the ocular, gastrointestinal and cardiovascular systems is seen.

For a clinically similar appearing condition, see PXE-like Papillary Dermal Elastolysis. In addition, patients with Beta-Thalassaemia as well as sickle cell disease can exhibit PXE-like changes [Open Journal of Blood Diseases, 2013, 3, 94].

Clinical

Yellow papules and cobble-stoning are best seen on the sides of the neck and the axilla, but these changes may also be seen in the antecubital and popliteal fossa, inguinal and periumbilical areas. Often, the analogy is made to plucked chicken skin. Over time, the skin may loose its elasticity.

Systemic

Ocular changes include the classic angiod streaks caused by breakdown of the elastic lamina of Bruch's membrane. Angiod streaks are not pathognomonic of PXE as they can also be seen in Paget's disease of the bone and sickle cell anemia. Decreased visual acuity is typical but complete blindness is rare. Cardiac manifestations include hypertension, atherosclerosis, claudication and myocardial infarction. Vascular changes are secondary to calcification of the elastic lamina of mostly medium-sized vessels. Gastrointestinal bleeding may occur and can be fatal. Bleeding has also been reported from the retina, bladder, nose, joint and subarachnoid space.

Treatment

Genetic counseling is important. Unfortunately, there is no known treatment for PXE. Patients should avoid cardiac risk factors such as smoking and uncontrolled hypertension. Football, wrestling and weight lifting can precipitate retinal hemorrhage. All patients should be examined by an ophthalmologist. Ocular complications are being treated by intravitreous injection of vascular endothelial growth factor antagonists that prevent neovascularization.

Cosmetic plastic surgery can improve excessive wrinkling. Fractional CO2 laser improved the appearance of one woman's neck [Plast Reconstr Surg Glob Open. 2014 Oct 7;2(9):e219].

A clinical trial now underway to test the efficacy of dietary magnesium, 900 mg/day in patients with PXE (Dr Mark Lebwohl, Mt Sinai University School of Medicine, New York; http://clinicaltrials.gov/show/NCT01525875).

Additional Pictures

PXE of the neck. Note the she sharp demarcation superiorly. Is that due to sun damage inducing the PXE changes?
Pseudoxanthoma elasticum

Close up here greatly resembles juxtaclavicular beaded lines. Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

PXE of the axilla.
Pseudoxanthoma elasticum

PXE of the antecubital fossa in two different patients.
Pseudoxanthoma elasticum Pseudoxanthoma elasticum

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