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

Let's hear from you!

We are constantly working to improve the website and its services. As such, we would greatly appreciate if you could fill this short survey (copy and paste link): https://goo.gl/forms/ybTEhcWzMcKXnNBw2