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Pseudoxanthoma Elasticum

  • Giuseppe Micali
  • Simona Boscaglia
  • Maria Rita Nasca
  • Francesco Lacarrubba
Chapter

Abstract

Pseudoxanthoma elasticum is a rare genetic syndrome caused by mutation of the ABCC6 gene codifying an ATP-transmembrane transporter protein and characterized by progressive mineralization and fragmentation of elastic fibers in different tissues. Cutaneous lesions, consisting of soft, small, yellowish asymptomatic papules confluent in plaques with cobblestone aspect, often represent the first manifestations of the disease before appearance of ocular and cardiovascular symptoms. Dermatoscopy may enhance the clinical recognition of cutaneous features by showing multiple irregular yellowish areas, some of them coalescing to form parallel strands, alternating with prominent linear vessels.

Keywords

Pseudoxanthoma elasticum Yellowish areas Parallel strands Vascular pattern 

References

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Giuseppe Micali
    • 1
  • Simona Boscaglia
    • 1
  • Maria Rita Nasca
    • 1
  • Francesco Lacarrubba
    • 1
  1. 1.Dermatology ClinicUniversity of CataniaCataniaItaly

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