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<p>Carney complex (CNC) is a genetic syndrome predisposing individuals to multiple neoplasms and is characterized by significant clinical heterogeneity. Tumors in bone occur rarely in this disease. When present, they are generally osteochondromyxomas (OMX), a neoplasm almost pathognomonic of CNC. Herein, we report the case of a 21-year-old woman with CNC who presented with an extensive bone lesion in the left temporal bone of the skull, which was surgically removed. It was not an OMX; instead, it was identified as fibrous dysplasia (FD). Additionally, a post-surgical whole-body bone scintigraphy revealed multiple foci of intense radiopharmaceutical uptake in the skull, facial bones, and the right femur, which are still under investigation but may correspond to polyostotic FD and/or multiple OMX. To our knowledge, this is the first report linking FD to CNC in humans, although this is a well-known feature of McCune-Albright syndrome (MAS) and has been described in mice bearing defects of the protein kinase A (PKA), the signaling system affected in both syndromes. Increased PKA activity by defects in <i>GNAS</i> or <i>PRKAR1A</i>, the genes mutated in MAS or CNC, respectively, leads to the proliferation of cells of intermediate differentiation contributing to bone tumor formation. In conclusion, our case underscores the clinical overlap between CNC and MAS and shows that in addition to OMX, FD may also occur in patients with CNC, expanding the clinical spectrum of manifestations in this syndrome.</p>

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Fibrous dysplasia in a patient with Carney complex

  • 期刊论文

  • 发表日期：

    2026年4月2日

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  • Maria Ponte,
  • Vítor Carneiro,
  • Andreia Pataco,
  • Regina Medeiros,
  • Constantine A. Stratakis,
  • João Anselmo

摘要

Carney complex (CNC) is a genetic syndrome predisposing individuals to multiple neoplasms and is characterized by significant clinical heterogeneity. Tumors in bone occur rarely in this disease. When present, they are generally osteochondromyxomas (OMX), a neoplasm almost pathognomonic of CNC. Herein, we report the case of a 21-year-old woman with CNC who presented with an extensive bone lesion in the left temporal bone of the skull, which was surgically removed. It was not an OMX; instead, it was identified as fibrous dysplasia (FD). Additionally, a post-surgical whole-body bone scintigraphy revealed multiple foci of intense radiopharmaceutical uptake in the skull, facial bones, and the right femur, which are still under investigation but may correspond to polyostotic FD and/or multiple OMX. To our knowledge, this is the first report linking FD to CNC in humans, although this is a well-known feature of McCune-Albright syndrome (MAS) and has been described in mice bearing defects of the protein kinase A (PKA), the signaling system affected in both syndromes. Increased PKA activity by defects in GNAS or PRKAR1A, the genes mutated in MAS or CNC, respectively, leads to the proliferation of cells of intermediate differentiation contributing to bone tumor formation. In conclusion, our case underscores the clinical overlap between CNC and MAS and shows that in addition to OMX, FD may also occur in patients with CNC, expanding the clinical spectrum of manifestations in this syndrome.