Varied presentations of pseudoxanthoma elasticum in a family

Sakata, S., Su, John C., Robertson, S., Yin, M. and Chow, C. W. (2006) Varied presentations of pseudoxanthoma elasticum in a family. Journal of Paediatrics and Child Health, 42 12: 817-820. doi:10.1111/j.1440-1754.2006.00984.x

Author Sakata, S.
Su, John C.
Robertson, S.
Yin, M.
Chow, C. W.
Title Varied presentations of pseudoxanthoma elasticum in a family
Journal name Journal of Paediatrics and Child Health   Check publisher's open access policy
ISSN 1034-4810
Publication date 2006-01-01
Year available 2006
Sub-type Article (original research)
DOI 10.1111/j.1440-1754.2006.00984.x
Volume 42
Issue 12
Start page 817
End page 820
Total pages 4
Language eng
Subject 2735 Pediatrics, Perinatology, and Child Health
Abstract Pseudoxanthoma elasticum (PXE) is a hereditary disorder of elastic tissue. The characteristic skin changes are asymptomatic yellow papules around the neck and in body folds giving the skin a characteristic cobblestone appearance. The eyes, cardiovascular and gastrointestinal systems are also commonly involved. In this case-series, we present a family of four children, three of whom demonstrated diverse manifestations of PXE. The first child presented with sudden death at age 3 and showed marked coronary and renal arterial intimal fibrosis with prominent fragmentation of the internal elastic lamina, initially attributed to idiopathic arterial calcification. The second child presented with clinical features and histology of the skin typical of PXE at age 11 and the third child, with abnormal, but non-specific cardiological findings at age 8, which raised the possibility of an early stage of PXE. This report emphasizes the importance of considering pseudoxanthoma elasticum in diverse clinical settings, early diagnosis and appropriate screening for asymptomatic family members.
Keyword Idiopathic arterial calcification of infancy
Pseudoxanthoma elasticum
Sudden infant death
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import - Archived
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 10 times in Scopus Article | Citations
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