PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disease inherited in an autosomal dominant fashion. Recently, the responsible gene, PSTPIP1, has been identified on chrom. 15q24-q25.1. Two mutations have been found in a protein called CD2 binding protein 1 (CD2BP1). This protein is part of an inflammatory pathway.
- Specific challenges associated with the recognition of the condition
Clinical features along with the familial tendency may suffice to make a diagnosis.
- Specific challenges associated with the diagnosis
No genetic test widely available yet.
- Specific challenges associated with the treatment
No drug registered. No clinical studies performed.
- Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care
Skin scarring due to severe acne and pyoderma gangraenosum is prominent. With repeated episodes of arthritis, the joints become damaged with multiple joint replacements required
Incidence : unknown
Prevalence : unknown