Case Report: Pseudoxanthoma elasticum

F1000Res. 2020 Jan 9:9:9. doi: 10.12688/f1000research.21431.1. eCollection 2020.


Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestations. The diagnosis is based on clinical manifestations, histological analysis of the lesions and genetic analysis. This is a case report of a 12-year-old child complaining of painless, mildly itchy yellow papules in the cervical region with 1 year of evolution. PXE is currently an incurable disease and has a favourable prognosis when cardiovascular and retinal complications are prevented and monitored.

Keywords: ABCC6 gene; Pseudoxanthoma elasticum; hypertension; retina angioid streaks.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cardiovascular System / pathology
  • Child
  • Female
  • Humans
  • Pseudoxanthoma Elasticum* / diagnosis
  • Pseudoxanthoma Elasticum* / genetics
  • Retina / pathology
  • Skin / pathology
  • Ultrasonography

Grants and funding

The author(s) declared that no grants were involved in supporting this work.