A Family Case of Cryopyrin-associated Periodic Syndrome

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  • Fujisawa Akihiro
    Department of Dermatology, Kyoto University Graduate School of Medicine
  • Kambe Naotomo
    Department of Dermatology, Kyoto University Graduate School of Medicine
  • Saito Megumu
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Nishikomori Ryuta
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Heike Toshio
    Department of Pediatrics, Kyoto University Graduate School of Medicine
  • Miyachi Yoshiki
    Department of Dermatology, Kyoto University Graduate School of Medicine

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Other Title
  • クライオピリン関連周期熱症候群（cryopyrin-associated periodic syndrome）の1家系例
  • クライオピリン カンレン シュウキ ネツ ショウコウグン cryopyrin associated periodic syndrome ノ 1 カケイレイ

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Abstract

A 12-year-old boy in Kyoto has been suffering from an urticaria-like rash since 3 days after birth. A rash was enhanced by cold stimulation. It was migratory and did not leave pigmentation. He did not show remarkable mental retardation or arthritis, but exhibited short stature. He experienced a headache and lassitude at the time of rash exacerbation. Laboratory findings revealed neutrophil-dominated leukocytosis (15.8×109/L, 74%) and elevated CRP (4.4 mg/dL). Renal function was normal. His father had the same symptoms and, additionally, perceptive deafness. From their history and laboratory findings, we diagnosed them with cryopyrin-associated periodic syndrome (CAPS). After informed consent, we analyzed their CIAS1 gene, and detected a mutation of R260W (778C>T) from both of them. Previously in Japan, only two familial cases of CAPS have been reported ; one as Muckle-Wells syndrome by Tamaki K, et al in 1976, and the other as familial cold autoinflammatory syndrome by Yamasita N, et al in 1987. Our case is the third family case in Japan, and also is the first from which the mutation of CIAS1 gene has been detected.

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