Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (2)

Pseudoxanthoma elasticum in Infant/Neonate
Other Resources UpToDate PubMed

Pseudoxanthoma elasticum in Infant/Neonate

Contributors: Christine S. Ahn MD, FAAD, William W. Huang MD, MPH, FAAD, Belinda Tan MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:06/13/2018
Last Updated:01/23/2022
Copyright © 2024 VisualDx®. All rights reserved.
Pseudoxanthoma elasticum in Infant/Neonate
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.
Copyright © 2024 VisualDx®. All rights reserved.