The American Journal of Medicine
Volume 122, Issue 2 , Pages 135-137 , February 2009

Pebbly Skin

  • Claudia Hernandez, MD

      Affiliations

    • Department of Dermatology (MC 624), University of Illinois at Chicago
    • Corresponding Author InformationCorrespondence should be addressed to Claudia Hernandez, MD, University of Illinois at Chicago, Department of Dermatology (MC 624), 808 South Wood Street, Room 376 CME, Chicago, IL 60612
    • ,
  • Seema Apichai, MD

      Affiliations

    • Department of Pathology (MC847), University of Illinois at Chicago

References 

  1. Struk B, Neldner KH, Rao VS, et al. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997;6:1823–1828
  2. Uitto J. The gene family of ABC transporters—novel mutations, new phenotypes. Trends Mol Med. 2005;11:341–343
  3. Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum—a metabolic disorder at the environmental-genome interface?. Trends Mol Med. 2001;7:13–17
  4. Jacobi H, Schreiber G. Pseudoxanthoma elasticum (Skin changes as a marker for systemic illness). Hautarzt. 1997;48:191–194
  5. Hu X, Plomp AS, van Soest S, et al. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Survey Opthal. 2003;48:424–438
  6. Federico A, Weinel S, Fabre V, et al. Dystrophic calcinosis cutis in pseudoxanthoma elasticum. J Am Acad Dermatol. 2008;58:707–710
  7. Schachner L, Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child. 1974;127:571–575
  8. van den Berg JSP, Hennekam RCM, Cruysberg JRM, et al. Prevalence of symptomatic intracranial aneursym and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis. 2000;10:315–319
  9. Renie WA, Pyeritz RE, Combs J, et al. Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet. 1984;19:235–244
  10. Shere DW, Singer G, Uribarri J, et al. Oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol. 2005;53:610–615
  11. Genetic testing for PXE. http://www.pxe.org/english/view.asp?x=1687#What_is_a_genetic_testAccessed September 5, 2008.
  12. Takata T, Ikeda M, Kodama H, Kitagawa N. Treatment of pseudoxanthoma elasticum with tocopherol acetate and ascorbic acid. Ped Dermatol. 2007;24:424–441

 Parwathi “Uma” Paniker, MD, Section Editor

 Funding: None.

 Conflict of Interest: Drs. Hernandez and Apichai have no financial conflicts of interest in regard to this manuscript.

 Authorship: Both authors had access to the data and had a role in writing the manuscript.

PII: S0002-9343(08)01071-1

doi: 10.1016/j.amjmed.2008.11.001

The American Journal of Medicine
Volume 122, Issue 2 , Pages 135-137 , February 2009

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