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Pseudoxanthoma elasticum in Adult
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Pseudoxanthoma elasticum in Adult

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Contributors: Christine S. Ahn MD, FAAD, William W. Huang MD, MPH, FAAD, Belinda Tan MD, PhD, Susan Burgin MD
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Synopsis

Pseudoxanthoma elasticum : Hyperextensible skin, Intertriginous distribution, Lateral neck, Optic disc atrophy
Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is an inherited disorder of abnormal calcification that affects elastic fibers in the dermis, retina, and cardiovascular system. PXE is inherited in autosomal recessive fashion. The basic defect is in the ABCC6 gene, which codes for ATP-binding cassette C6, a cellular transport protein. The precise relationship between the genetic defect and the phenotype remains unclear. A correlation of the severity of PXE with high calcium intake has been suggested. The estimated prevalence is 1 in 100 000. For unknown reasons, PXE is more common in women than in men.

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

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
252246005 – Pseudoxanthoma elasticum

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Differential Diagnosis & Pitfalls

Angioid streaks:

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Last Reviewed:06/13/2018
Last Updated:01/23/2022
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Pseudoxanthoma elasticum in Adult
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A medical illustration showing key findings of Pseudoxanthoma elasticum : Hyperextensible skin, Intertriginous distribution, Lateral neck, Optic disc atrophy
Clinical image of Pseudoxanthoma elasticum - imageId=64511. Click to open in gallery. caption: 'Yellowish papules and plaques, some with central umbilication, on the neck.'
Yellowish papules and plaques, some with central umbilication, on the neck.

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