A case report of cutaneous polyarteritis nodosa in siblings.
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.
a Department of Pediatrics , JCHO Sapporo Hokushin Hospital , Sapporo , Japan.|b Department of Pediatrics and.
Toshitaka
T
Kizawa
b Department of Pediatrics and.
Yuko
Y
Yoto
b Department of Pediatrics and.
Miyako
M
Mizukami
b Department of Pediatrics and.
Takeshi
T
Tsugawa
b Department of Pediatrics and.
Takako
T
Takeuchi
b Department of Pediatrics and.
Hotaka
H
Kamasaki
c Department of Dermatology , Sapporo Medical University School of Medicine , Sapporo , Japan , and.
Yasue
Y
Ishii-Osai
c Department of Dermatology , Sapporo Medical University School of Medicine , Sapporo , Japan , and.
Toshiharu
T
Yamashita
d Department of Pediatrics , Takikawa Municipal Hospital , Takikawa , Japan.
Kazushige
K
Nagai
b Department of Pediatrics and.
Tsukasa
T
Hori
b Department of Pediatrics and.
Hiroyuki
H
Tsutsumi
D000483:Alleles; D002648:Child; D005260:Female; D059871:HLA-A24 Antigen / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D009154:Mutation; D010488:Polyarteritis Nodosa / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D000071198:Pyrin / Q000235:genetics*; D035781:Siblings; D012867:Skin / Q000473:pathology; D017445:Skin Diseases, Vascular / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D040521:Subcutaneous Tissue / Q000098:blood supply / Q000000981:diagnostic imaging / Q000473:pathology
D059871:HLA-A24 Antigen; C000604192:MEFV protein, human; D000071198:Pyrin
Combination therapy; Cutaneous polyarteritis nodosa (CPAN); E148Q; HLA alleles; MEFV mutation; Siblings