144. Pseudoxanthoma Elasticum

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Anne Han and
  2. Mark Lebwohl MD

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch144

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

Han, A. and Lebwohl, M. (2011) Pseudoxanthoma Elasticum, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch144

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 7

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. Department of Dermatology, The Mount Sinai School of Medicine, New York, NY, USA

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • ABCC6;
  • angioid streaks;
  • elastic tissue calcification;
  • MRP6;
  • pseudo-xanthoma elasticum;
  • PXE

Summary

Pseudo-xanthoma elasticum is a rare, inherited disease characterized by progressive calcification and fragmentation of elastic tissue in the skin, eyes and cardiovascular system. The disease has been attributed to mutations in the ABCC6 gene. Typical cutaneous lesions appear as small, yellow papules in the neck, axillae or groin that may develop in childhood and become more noticeable in adolescence. More serious manifestations include cardiovascular disease, visual impairment and gastrointestinal bleeding. Management consists of minimizing the complications of PXE and monitoring for changes with regular physical and ophthalmological examinations. Patients usually have a normal lifespan, but cardiovascular events may be fatal.