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

Pediatr Dermatol. 2024 Nov-Dec;41(6):1179-1182. doi: 10.1111/pde.15669. Epub 2024 Jul 5.

Abstract

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.

Keywords: PAMI syndrome; PSTPIP1‐associated myeloid‐related proteinemia inflammatory; acne; autoinflammatory; cutaneous manifestations; hypercalprotectinemia; hyperzincemia; inflammatory condition; neutropenia; pyoderma gangrenosum; skin manifestations.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acne Vulgaris
  • Adaptor Proteins, Signal Transducing* / genetics
  • Adolescent
  • Cytoskeletal Proteins* / genetics
  • Female
  • Humans
  • Syndrome

Substances

  • PSTPIP1 protein, human
  • Cytoskeletal Proteins
  • Adaptor Proteins, Signal Transducing