Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 2005 Jul;90(7):754–756. doi: 10.1136/adc.2004.062075

Pseudoxanthoma elasticum

S Laube 1, C Moss 1
PMCID: PMC1720489  PMID: 15970621

Full Text

The Full Text of this article is available as a PDF (72.6 KB).

Figure 1.

Figure 1

Open in a new tab

 Characteristic yellow papules on the neck. Parental consent was obtained for publication of this figure.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aessopos Athanasios, Farmakis Dimitrios, Loukopoulos Dimitris. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Blood. 2002 Jan 1;99(1):30–35. doi: 10.1182/blood.v99.1.30. [DOI] [PubMed] [Google Scholar]
  2. Bercovitch Lionel, Terry Patrick. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13–S14. doi: 10.1016/j.jaad.2004.01.015. [DOI] [PubMed] [Google Scholar]
  3. Bergen A. A., Plomp A. S., Schuurman E. J., Terry S., Breuning M., Dauwerse H., Swart J., Kool M., van Soest S., Baas F. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):228–231. doi: 10.1038/76109. [DOI] [PubMed] [Google Scholar]
  4. Chassaing Nicolas, Martin Ludovic, Mazereeuw Juliette, Barrié Laurence, Nizard Sonia, Bonafé Jean-Louis, Calvas Patrick, Hovnanian Alain. Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol. 2004 Mar;122(3):608–613. doi: 10.1111/j.0022-202X.2004.22312.x. [DOI] [PubMed] [Google Scholar]
  5. Hacker S. M., Ramos-Caro F. A., Beers B. B., Flowers F. P. Juvenile pseudoxanthoma elasticum: recognition and management. Pediatr Dermatol. 1993 Mar;10(1):19–25. doi: 10.1111/j.1525-1470.1993.tb00005.x. [DOI] [PubMed] [Google Scholar]
  6. Hamamoto Y., Nagai K., Yasui H., Muto M. Hyperreactivity of pseudoxanthoma elasticum-affected dermis to vitamin D3. J Am Acad Dermatol. 2000 Apr;42(4):685–687. [PubMed] [Google Scholar]
  7. Heaton J. P., Wilson J. W. Pseudoxanthoma elasticum and its urological implications. J Urol. 1986 Apr;135(4):776–777. doi: 10.1016/s0022-5347(17)45848-4. [DOI] [PubMed] [Google Scholar]
  8. Lebwohl M., Neldner K., Pope F. M., De Paepe A., Christiano A. M., Boyd C. D., Uitto J., McKusick V. A. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol. 1994 Jan;30(1):103–107. doi: 10.1016/s0190-9622(08)81894-4. [DOI] [PubMed] [Google Scholar]
  9. Lebwohl M., Phelps R. G., Yannuzzi L., Chang S., Schwartz I., Fuchs W. Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med. 1987 Aug 6;317(6):347–350. doi: 10.1056/NEJM198708063170604. [DOI] [PubMed] [Google Scholar]
  10. Li T. H., Tseng C. R., Hsiao G. H., Chiu H. C. An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol. 1996 Jun;134(6):1157–1159. doi: 10.1111/j.1365-2133.1996.tb07970.x. [DOI] [PubMed] [Google Scholar]
  11. Neldner K. H., Martinez-Hernandez A. Localized acquired cutaneous pseudoxanthoma elasticum. J Am Acad Dermatol. 1979 Dec;1(6):523–530. doi: 10.1016/s0190-9622(79)80096-1. [DOI] [PubMed] [Google Scholar]
  12. Nishida H., Endo M., Koyanagi H., Ichihara T., Takao A., Maruyama M. Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum. Ann Thorac Surg. 1990 Mar;49(3):483–485. doi: 10.1016/0003-4975(90)90265-8. [DOI] [PubMed] [Google Scholar]
  13. Ohnishi Y., Tajima S., Ishibashi A., Inazumi T., Sasaki T., Sakamoto H. Pseudoxanthoma elasticum-like papillary dermal elastolysis: report of four Japanese cases and an immunohistochemical study of elastin and fibrillin-1. Br J Dermatol. 1998 Jul;139(1):141–144. doi: 10.1046/j.1365-2133.1998.02332.x. [DOI] [PubMed] [Google Scholar]
  14. Plomp Astrid S., Hu Xiaofeng, de Jong Paulus T. V. M., Bergen Arthur A. B. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet A. 2004 May 1;126A(4):403–412. doi: 10.1002/ajmg.a.20632. [DOI] [PubMed] [Google Scholar]
  15. Ringpfeil F., Lebwohl M. G., Christiano A. M., Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001–6006. doi: 10.1073/pnas.100041297. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Ringpfeil F., Pulkkinen L., Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug;10(4):221–228. doi: 10.1034/j.1600-0625.2001.100401.x. [DOI] [PubMed] [Google Scholar]
  17. Rodríguez-Cuartero A., García-Vera E. Pseudoxanthoma elasticum: a study of urinary glycosaminoglycan levels in two cases. Br J Dermatol. 1997 Sep;137(3):473–474. doi: 10.1111/j.1365-2133.1997.tb03766.x. [DOI] [PubMed] [Google Scholar]
  18. Rosenzweig B. P., Guarneri E., Kronzon I. Echocardiographic manifestations in a patient with pseudoxanthoma elasticum. Ann Intern Med. 1993 Sep 15;119(6):487–490. doi: 10.7326/0003-4819-119-6-199309150-00007. [DOI] [PubMed] [Google Scholar]
  19. Schachner L., Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child. 1974 Apr;127(4):571–575. doi: 10.1001/archpedi.1974.02110230117021. [DOI] [PubMed] [Google Scholar]
  20. Secrétan M., Zografos L., Guggisberg D., Piguet B. Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum. Arch Ophthalmol. 1998 Oct;116(10):1333–1336. doi: 10.1001/archopht.116.10.1333. [DOI] [PubMed] [Google Scholar]
  21. Sherer D. W., Bercovitch L., Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol. 2001 Mar;44(3):534–537. doi: 10.1067/mjd.2001.112401. [DOI] [PubMed] [Google Scholar]
  22. Struk B., Neldner K. H., Rao V. S., St Jean P., Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997 Oct;6(11):1823–1828. doi: 10.1093/hmg/6.11.1823. [DOI] [PubMed] [Google Scholar]
  23. Suarez M. J., Garcia J. B., Orense M., Raimunde E., Lopez M. V., Fernandez O. Sonographic aspects of pseudoxanthoma elasticum. Pediatr Radiol. 1991;21(7):538–539. doi: 10.1007/BF02011738. [DOI] [PubMed] [Google Scholar]
  24. Uenishi T., Uchiyama M., Sugiura H., Danno K. Pseudoxanthoma elasticum with generalized cutaneous laxity. Arch Dermatol. 1997 May;133(5):664–666. doi: 10.1001/archderm.133.5.664. [DOI] [PubMed] [Google Scholar]
  25. Viljoen D. L., Bloch C., Beighton P. Plastic surgery in pseudoxanthoma elasticum: experience in nine patients. Plast Reconstr Surg. 1990 Feb;85(2):233–238. doi: 10.1097/00006534-199002000-00011. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES