Pseudoxanthoma elasticum physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2] Kiran Singh, M.D. [3]

Overview

Cutaneous signs include a small, yellowish papular lesions. Cutaneous laxity mainly affects the neck, axillae (armpits), groin, and flexural creases. Less common cutaneous manifestation include comedones or inflammatory papules, elastosis perforans serpiginosa, and reticulate pigmented rash. Ocular signs include: Peau d'orange, angioid streaks, retinal hemorrhage which may eventually lead to loss of vision. Cardiac involvement may manifest as angina pectoris, intermittent claudication, reduced pulse amplitude. Gastrointestinal bleeding as evident by melena, hematemesis are also experienced by this patients.

Physical Examination

Cutaneous manifestations

Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees). Skin may become lax and redundant. Many individuals have "oblique mental creases" (diagonal grooves of the chin). Less common cutaneous manifestations may include: Acne-like lesions on the neck or the trunk, featuring comedones or inflammatory papules, elastosis perforans serpiginosa, and reticulate pigmented rash.

Trunk

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  Pseudoxanthoma elasticum. With permission from Dermatology Atlas.

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  Pseudoxanthoma elasticum. With permission from Dermatology Atlas.

Extremities

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  Pseudoxanthoma elasticum. With permission from Dermatology Atlas.

Ocular manifestations

PXE first affects the retina through a dimpling of the Bruch membrane (a thin membrane separating the blood vessel-rich layer from the pigmented layer of the retina), that is only visible during ophthalmologic examinations. This is called peau d'orange (a French term meaning that the retina resembles the skin of an orange). Eventually the mineralization of the elastic fibers in the Bruch membrane create cracks (angioid streaks) that radiate out from the optic nerve. Angioid streaks themselves do not cause distortion of vision, even if they cross into the foveal area. This symptom is present in almost all PXE patients and is usually noticed a few years after the onset of cutaneous lesions. These cracks may allow small blood vessels that were originally held back by Bruch's membrane to penetrate the retina. These blood vessels sometimes leak, and it is these retinal hemorrhages that may lead to the loss of central vision. Vision loss is a major issue in many PXE patients.

Cardiovascular manifestations

This occurs as a result of the arterial involvement. In the circulatory system, intermittent claudication (leg pain during walking which resolves at rest), which is usually a late presentation, is a prominent feature. At later stages, coronary artery disease may develop, leading to angina and myocardial infarction (heart attack). Mitral valve prolapse has a higher prevalence in patients with PXE. Other cardiac manifestations include: Reduced pulse amplitude, arterial hypertension, restrictive cardiomyopathy, and sudden cardiac death, which often results in death. In the digestive tract, the principal symptom is gastrointestinal bleeding, usually from the stomach. About 10-15% of patients with PXE experience GI bleeding at some point in the life.

Diagnostic Criteria

In order to make a diagnosis, the patient must have two major criteria from two separate categories or one major criterion plus one or more minor criteria.

Major criteria

• Skin - Yellow papules/plaques on the lateral neck or body, skin biopsy showing increased calcification with clumping of elastic fiber from affected skin
• Eye - Peau d’orange changes, angioid streaks (confirmed by angiography)
• Genetics - Presence of a pathogenic mutation of both alleles of ABCC6, a first-degree relative who meets criteria for definitive pseudoxanthoma elasticum

Minor criteria

• Eye - One angioid streak shorter than one disk diameter, “comets” in the retina, one or more “wing signs” on the retina
• Genetics - A pathogenic mutation in one allele of the ABCC6 gene

References

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