The PAPASH syndrome (pyogenic arthritis, pyoderma gangrenosum, acne, hidradenitis suppurativa / acne inversa) has recently been described in few unrelated patients as a new entity within the spectrum of hidradenitis suppurativa / acne inversa syndromes. PAPASH syndrome is similar to PAPA syndrome but differs insofar as it includes hidradenitis suppurativa / acne inversa. Mutations of the PSTPIP1 gene have been detected in some cases.

  • Specific challenges associated with the recognition of the condition

Clinical features may help to make a diagnosis.

  • Specific challenges associated with the diagnosis

No genetic test widely available yet. Mutations have not been detected in all cases.

  • 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, pyoderma gangraenosum and hidradenitis suppurativa / acne inversa is prominent.

Incidence : unknown

Prevalence : unknown