ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Gaslini Pediatric Stroke Group

Research output: Contribution to journalArticle

Abstract

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.

Original languageEnglish
Pages (from-to)725-728
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number4
DOIs
Publication statusPublished - Jul 2018

Fingerprint

Pseudoxanthoma Elasticum
Eye Manifestations
Angioid Streaks
Stroke
Skin Manifestations
Digestive System
Skin
Mutation
Inborn Genetic Diseases
Elastic Tissue
Delayed Diagnosis
Genetic Testing
Dermis
Cardiovascular System
Age of Onset
Gastrointestinal Tract
Early Diagnosis
Young Adult
Pediatrics

Keywords

  • Adolescent
  • Child, Preschool
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Multidrug Resistance-Associated Proteins/genetics
  • Mutation
  • Pseudoxanthoma Elasticum/complications
  • Stroke/genetics

Cite this

ABCC6 mutations and early onset stroke : Two cases of a typical Pseudoxanthoma Elasticum. / Gaslini Pediatric Stroke Group.

In: European Journal of Paediatric Neurology, Vol. 22, No. 4, 07.2018, p. 725-728.

Research output: Contribution to journalArticle

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abstract = "Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.",
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T2 - Two cases of a typical Pseudoxanthoma Elasticum

AU - Gaslini Pediatric Stroke Group

AU - Bertamino, Marta

AU - Severino, Mariasavina

AU - Grossi, Alice

AU - Rusmini, Marta

AU - Tortora, Domenico

AU - Gandolfo, Carlo

AU - Pederzoli, Silvia

AU - Malattia, Clara

AU - Picco, Paolo

AU - Striano, Pasquale

AU - Ceccherini, Isabella

AU - Di Rocco, Maja

N1 - Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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AB - Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke. In the first patient, diagnosis was delayed until typical dermatologic alterations appeared; in the second patient, next-generation sequencing (NGS) study led to early diagnosis and specific follow-up, underlying the crucial role in idiopathic pediatric stroke of early genetic testing using NGS-based panels.

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KW - Child, Preschool

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KW - Humans

KW - Male

KW - Multidrug Resistance-Associated Proteins/genetics

KW - Mutation

KW - Pseudoxanthoma Elasticum/complications

KW - Stroke/genetics

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VL - 22

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