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Achondroplasia and enchondromatosis: report of three boys

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Abstract

We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals. Given the prevalence of achondroplasia and enchondromatosis, the metaphyseal changes in these patients are less likely to represent the coincidence of both disorders, but rather to result from a rare consequence of the FGFR3 mutation. Impaired FGFs/FGFR3 signaling pathway in achondroplasia inhibits chondrocytic proliferation, which accounts for most characteristics of achondroplasia. On the other hand, it causes conflicting biological consequences that can suppress or stimulate chondrocytic maturation. In a small subset of achondroplastic individuals, the suppression of chondrocytic maturation may outweigh the stimulation, which leads to cartilaginous overgrowth into the metaphysis, eventually causing the metaphyseal dysplasia found in the present patients.

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Authors and Affiliations

  1. Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan

    Chikahiko Numakura

  2. Endocrinology and Metabolism Unit, Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo, Japan

    Chikahiko Numakura & Yukihiro Hasegawa

  3. Department of Pediatrics, Shimane University School of Medicine, Shimane, Japan

    Hironori Kobayashi

  4. Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children’s Medical Center, Kanagawa, Japan

    Masanori Adachi

  5. Department of Radiology, Ajou University Hospital, Seoul, South Korea

    Ok Hwa Kim

  6. Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan

    Gen Nishimura

Authors
  1. Chikahiko Numakura
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  2. Hironori Kobayashi
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  3. Yukihiro Hasegawa
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  4. Masanori Adachi
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  5. Ok Hwa Kim
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  6. Gen Nishimura
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Correspondence to Chikahiko Numakura.

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Numakura, C., Kobayashi, H., Hasegawa, Y. et al. Achondroplasia and enchondromatosis: report of three boys. Skeletal Radiol 36 (Suppl 1), 29–33 (2007). https://doi.org/10.1007/s00256-006-0161-x

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  • DOI: https://doi.org/10.1007/s00256-006-0161-x

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