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<p>Fibrogenesis imperfecta ossium (FIO) is a rare, progressive, fatal osteosclerotic disorder affecting the entire skeleton of adults in their middle age. First observed in 1938, it was subsequently described in 1950 on a histopathological basis, but received its acronym only in 1966. Since then, 29 cases have been described. From the first two patients, spontaneous fractures and immature osteoid emerged, the latter replacing bone from cortical endosteum up to the bone marrow. This was accompanied by the absence of mineralisation, as occurs in osteomalacia, and the presence of argyrophilic/aureophilic fibrils, irregular and lacking the birefringence typical of collagen. Given the uncertainty surrounding its aetiopathogenesis, the disease has been treated with osteoanabolic molecules such as vitamin D, sodium fluoride, testosterone, and recombinant GH, currently considered the most promising, while negligible results have been achieved with antiresorptive drugs (calcitonin, bisphosphonates). A role for glucocorticoids and alkylating agents suggests an osteoimmunomodulatory component, making FIO a natural model to investigate the role of different phases of bone remodelling in achieving efficient mineral mass and the type of therapies needed for this goal.</p>

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Fibrogenesis imperfecta ossium: un banco di prova traslazionale per le terapie del rimodellamento osseo

  • 期刊论文

  • 发表日期：

    2026年7月9日

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  • Roberto Toni,
  • Fulvio Barbaro,
  • Giusy Di Conza,
  • Francesca Pia Quartulli,
  • Salvatore Mosca,
  • Simone Sprio,
  • Anna Tampieri,
  • Silvio Caravelli,
  • Giammarco Gardini,
  • Massimiliano Mosca

摘要

Fibrogenesis imperfecta ossium (FIO) is a rare, progressive, fatal osteosclerotic disorder affecting the entire skeleton of adults in their middle age. First observed in 1938, it was subsequently described in 1950 on a histopathological basis, but received its acronym only in 1966. Since then, 29 cases have been described. From the first two patients, spontaneous fractures and immature osteoid emerged, the latter replacing bone from cortical endosteum up to the bone marrow. This was accompanied by the absence of mineralisation, as occurs in osteomalacia, and the presence of argyrophilic/aureophilic fibrils, irregular and lacking the birefringence typical of collagen. Given the uncertainty surrounding its aetiopathogenesis, the disease has been treated with osteoanabolic molecules such as vitamin D, sodium fluoride, testosterone, and recombinant GH, currently considered the most promising, while negligible results have been achieved with antiresorptive drugs (calcitonin, bisphosphonates). A role for glucocorticoids and alkylating agents suggests an osteoimmunomodulatory component, making FIO a natural model to investigate the role of different phases of bone remodelling in achieving efficient mineral mass and the type of therapies needed for this goal.