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Related Experiment Videos

Epicranial plexiform neurofibroma.

J García-Uría, R G Sola, R Carrillo

    Surgical Neurology
    |May 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Epicranial plexiform neurofibromas, a rare neurofibromatosis symptom, were observed in two infants. These tumors were the primary sign, aside from skin pigmentation, indicating the need for early diagnosis in pediatric neurofibromatosis cases.

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    Area of Science:

    • Pediatric Oncology
    • Dermatology
    • Genetics

    Background:

    • Neurofibromatosis is a genetic disorder characterized by the development of tumors in the nervous system.
    • Epicranial plexiform neurofibromas are an exceptionally rare manifestation, typically presenting in infancy.
    • This condition requires careful differentiation from other pediatric scalp masses.

    Observation:

    • Two cases of infants presenting with epicranial plexiform neurofibromas are detailed.
    • Tumor onset occurred at two and three months of age.
    • One patient exhibited an associated calvarial bony defect alongside the epicranial tumor.

    Findings:

    • The epicranial tumors represented the most significant, isolated manifestation of neurofibromatosis in both cases, apart from cutaneous hyperpigmentation.

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  • The findings highlight the potential for localized, significant tumor burden in early-onset neurofibromatosis.
  • The presence of a calvarial defect underscores the infiltrative capacity of these rare tumors.

    • Implications:

    • Early recognition of epicranial plexiform neurofibromas is crucial for timely diagnosis and management of neurofibromatosis.
    • These cases emphasize the importance of thorough evaluation for systemic disease, even with seemingly isolated cranial findings.
    • Further research into the specific pathogenesis and long-term outcomes of epicranial neurofibromas is warranted.