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 contribution | Recurrent painful ulcers |
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Original language | Dutch |
Pages (from-to) | 46-48 |
Number of pages | 3 |
Journal | Nederlands Tijdschrift voor Dermatologie en Venereologie |
Volume | 29 |
Issue number | 4 |
Publication status | Published - Apr 2019 |
Keywords
- ADA2 deficiency
- CECR1
- DADA2
- Livedo reticularis
- Ulcer