Recidiverende pijnlijke ulcera

Translated title of the contribution: Recurrent painful ulcers

Rob J.B. Klemans*, H. L. Leavis, J. M. van Montfrans, M. R. van Dijk, C. J.G. Sanders

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A man, known for many years with recurrent, painful ulcers on extremities and trunk, was diagnosed with ADA2 deficiency based on a mutation in the ADA2 gene. ADA2 deficiency is a monogenetic, auto-inflammatory disease with a variable phenotype and hence a variable prognosis. Livedo reticularis, vasculitis and repeated ulcers are the most frequently observed dermatologic clinical signs. In addition, in half of the patients neurologic manifestations (usually early onset stroke) and hematologic abnormalities can be seen.

Translated title of the contributionRecurrent painful ulcers
Original languageDutch
Pages (from-to)46-48
Number of pages3
JournalNederlands Tijdschrift voor Dermatologie en Venereologie
Volume29
Issue number4
Publication statusPublished - Apr 2019

Keywords

  • ADA2 deficiency
  • CECR1
  • DADA2
  • Livedo reticularis
  • Ulcer

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