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Pseudoxanthoma Elasticum

Qian, Steve S. MD1; Kesar, Varun MD2; Shah, Farah MD1; Park, Dan MD1; Sorrentino, Dario MD2

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doi: 10.14309/crj.0000000000000410
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CASE REPORT

A 57-year-old man presented to the emergency department for evaluation of hematemesis. Physical examination was notable for complete blindness and 2–3 mm yellow papules with increased density around the neck, antecubital area, popliteal fossa, axillary folds, and periumbilicus (Figure 1). An esophagogastroduodenoscopy was scheduled, which revealed fresh blood in the fundus with several large clots in the stomach, limiting further visualization (Figure 2). Subsequent angiography revealed active multifocal hemorrhage along the path of the proximal left gastric artery which was embolized (Figure 3). However, within 3 hours, the patient began to bleed once more. The general surgery team was consulted, but on learning from the patient's wife that he had a previously undisclosed diagnosis of pseudoxanthoma elasticum (PXE), operative management was deferred. A second angiography revealed no new bleeding vessels, but the right gastric artery was empirically coiled. The patient tolerated the procedure well, continuing to remain stable with steady improvement in his hemoglobin. Five days after admission, the patient made a full recovery and was discharged home.

Figure 1.
Figure 1.:
Physical examination noting yellow, irregularly shaped papules, 2–3 mm in size coalescing into plaques around (A) the neck, (B) the antecubital area, and (C) the popliteal fossa.
Figure 2.
Figure 2.:
A large clot in the fundus area of the stomach as visualized by endoscopy.
Figure 3.
Figure 3.:
Angiography revealing (A) bleeding in the proximal left gastric artery with (B) successful coiling.

Pseudoxanthoma elasticum is an inherited multisystem connective tissue disorder that results in fragmentation and calcification of elastic fibers. Over 80% of affected individuals present with 2–10 mm sized yellow skin papules with a predilection for the neck and flexural areas.1 PXE also causes gastrointestinal (GI) hemorrhage in approximately 13% of affected individuals, which occurs because of degeneration of arterial elastic fibers in the mucosa of the stomach and intestine.2

Early recognition and diagnosis of PXE-associated GI bleeding can lead to improved outcomes because the bleeding in this patient population is usually recurrent and life-threatening.1 However, because the GI manifestations of PXE are uncommon, the underlying diagnosis is frequently missed. In cases where PXE is suspected, a skin examination with particular attention to the neck and flexural areas is crucial.1 Ophthalmologic manifestations of PXE are also an identifiable sign of the disease, and a fundal examination looking for angioid streaks or choroidal neovascularization in those with suspected vascular involvement should be performed.3 Other vascular signs such as intermittent claudication in all extremities and peripheral artery disease can be seen secondary to dystrophic mineralization of connective tissue.1,4,5 Therefore, a detailed extremity and cardiovascular examination should be conducted in all patients suspected of having PXE.

DISCLOSURES

Author contributions: All authors contributed equally to this manuscript. S. Qian is the article guarantor.

Financial disclosure: None to report.

Informed consent was obtained for this case report.

REFERENCES

1. Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12(1):85.
2. Bonotto G, Tonetto F, Baraglia E, et al. Pseudoxanthoma elasticum: A rare cause of upper digestive hemorrhage. Minerva Chir. 1992;47:1641–5.
3. Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169–80.
4. Vanakker OM, Leroy BP, Coucke P, et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008;29:205.
5. Leftheriotis G, Abraham P, Le Corre Y, et al. Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum. J Vasc Surg. 2011;54:1390–4.
© 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.