A case report of cutaneous polyarteritis nodosa in siblings

Mod Rheumatol. 2018 Nov;28(6):1049-1052. doi: 10.1080/14397595.2016.1189139. Epub 2016 Jun 14.


Cutaneous polyarteritis nodosa (CPAN) is characterized by a necrotizing vasculitis of small and medium-sized arteries in the skin, which can be associated with fever, arthralgia, myalgia, and neuropathy, but, unlike polyarteritis nodosa (PAN), there is no visceral involvement. CPAN is rare in childhood. We report two siblings who developed CPAN during childhood. Interestingly, both had Mediterranean fever gene (MEFV) mutation, i.e. heterozygous E148Q. They also shared HLA-A24, -DR15 alleles. Simultaneous occurrence of MEFV mutation and HLA alleles with CPAN has never been reported in Japan. These cases could provide some hereditary clue for the development of CPAN.

Keywords: Combination therapy; Cutaneous polyarteritis nodosa (CPAN); E148Q; HLA alleles; MEFV mutation; Siblings.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Child
  • Female
  • HLA-A24 Antigen / genetics*
  • Heterozygote
  • Humans
  • Japan
  • Mutation
  • Polyarteritis Nodosa* / diagnosis
  • Polyarteritis Nodosa* / genetics
  • Polyarteritis Nodosa* / physiopathology
  • Pyrin / genetics*
  • Siblings
  • Skin / pathology
  • Skin Diseases, Vascular* / diagnosis
  • Skin Diseases, Vascular* / genetics
  • Skin Diseases, Vascular* / physiopathology
  • Subcutaneous Tissue* / blood supply
  • Subcutaneous Tissue* / diagnostic imaging
  • Subcutaneous Tissue* / pathology


  • HLA-A24 Antigen
  • MEFV protein, human
  • Pyrin