Pseudoxanthoma elasticum in Adult
Synopsis

Cutaneous manifestations often begin in childhood or early adulthood. Individuals develop asymptomatic yellowish papules on the neck, and later on the flexural surfaces, that coalesce into cobblestone-like plaques, resembling "plucked chicken skin." Lesions may also involve oral and anogenital mucosae, and long-standing disease can lead to perforating lesions due to increased dermal deposition of calcium that extrudes through the epidermis. Characteristic eye findings are angioid streaks. Potential complications of PXE are retinal hemorrhages, which lead to central vision loss, and gastrointestinal hemorrhage. Patients experience accelerated atherosclerosis and are at higher risk of developing hypertension, intermittent claudication, angina / myocardial infraction, stroke, and mitral valve prolapse.
A PXE-like syndrome may also be precipitated by long-term D-penicillamine use for the treatment of cystinuria or Wilson disease.
Codes
Q82.8 – Other specified congenital malformations of skin
SNOMEDCT:
252246005 – Pseudoxanthoma elasticum
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Last Updated:01/23/2022