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PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature.

Megan M TranPallavi Basu SprauAmanda R MoyerKerri E RiegerMatthew A LewisJoyce J HsuDawn H Siegel
Published in: Pediatric dermatology (2024)
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder often arising in pediatric patients. We present a case of an 18-year-old female with a past medical history of growth failure, immunoglobulin A nephropathy, and inflammatory arthritis who presented to a pediatric dermatology clinic with findings of acne, psoriasiform dermatitis, and hidradenitis suppurativa, whose clinical, genetic, and laboratory findings were most consistent with PAMI syndrome. We conducted a literature review to better characterize this rare condition in the context of dermatologic findings. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.
Keyphrases
  • case report
  • oxidative stress
  • hidradenitis suppurativa
  • healthcare
  • rheumatoid arthritis
  • primary care
  • acute myeloid leukemia
  • young adults
  • immune response
  • gene expression
  • wound healing