Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

doi:10.1007/s00431-013-2252-8

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Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

European journal of pediatrics - 1 Jun 2014

Kitaoka Taichi, Miyoshi Yoko, Namba Noriyuki, Miura Kohji, Kubota Takuo, Ohata Yasuhisa, Fujiwara Makoto, Takagi Masaki, Hasegawa Tomonobu, Jüppner Harald, Ozono Keiichi

Abstract excerpt

UNLABELLED: Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy. The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. However, its pathogenesis remains to be elucidated, and the reason...

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Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

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