Kizawa Toshitaka, Yoto Yuko, Mizukami Miyako, Tsugawa Takeshi, Takeuchi Takako, Kamasaki Hotaka, Ishii-Osai Yasue, Yamashita Toshiharu, Nagai Kazushige, Hori Tsukasa, Tsutsumi Hiroyuki
a Department of Pediatrics , JCHO Sapporo Hokushin Hospital , Sapporo , Japan.
b Department of Pediatrics and.
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.
皮肤型结节性多动脉炎（CPAN）的特征是皮肤中小动脉的坏死性血管炎，可伴有发热、关节痛、肌痛和神经病变，但与结节性多动脉炎（PAN）不同的是，无内脏受累。CPAN在儿童期罕见。我们报告了两名在儿童期患CPAN的兄弟姐妹。有趣的是，两人均有地中海热基因（MEFV）突变，即杂合子E148Q。他们还共享HLA - A24、- DR15等位基因。在日本，从未报道过MEFV突变和HLA等位基因与CPAN同时出现的情况。这些病例可为CPAN的发病提供一些遗传线索。
