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

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

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5 Citations (Scopus)

Abstract

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 for the incomplete penetrance and transient course of the disease is still unclear. In the present study, we performed mutation analysis of the COL1A1 and COL1A2 genes and measured bone mineral density in two Japanese familial cases of Caffey disease. The index case and two clinically healthy members of one family carry the common heterozygous mutation; in contrast, no mutation in COL1A1 or COL1A2 was identified in the affected members of the second family. In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation. Conclusion: The results reveal that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal bone mineral density.

Original languageEnglish
Pages (from-to)799-804
Number of pages6
JournalEuropean Journal of Pediatrics
Volume173
Issue number6
DOIs
Publication statusPublished - 2014 Jun

Keywords

  • Bone formation
  • Bone mineral density
  • Cortical bone
  • Hyperostosis
  • Mutation
  • Type 1 collagen

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Kitaoka, T., Miyoshi, Y., Namba, N., Miura, K., Kubota, T., Ohata, Y., Fujiwara, M., Takagi, M., Hasegawa, T., Jüppner, H., & Ozono, K. (2014). 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, 173(6), 799-804. https://doi.org/10.1007/s00431-013-2252-8