A Case of Neurofibromatosis Type 1 with Multiple Nodular Plexiform Neurofibromas

  • MABUCHI Tomotaka
    Specialized Clinical Science (Dermatology), Tokai University School of Medicine
  • UMEZAWA Yoshinori
    Specialized Clinical Science (Dermatology), Tokai University School of Medicine
  • MATSUYAMA Takashi
    Specialized Clinical Science (Dermatology), Tokai University School of Medicine
  • OZAWA Akira
    Specialized Clinical Science (Dermatology), Tokai University School of Medicine

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Other Title
  • Nodular Plexiform Neurofibromaが多発した神経線維腫症1型の1例
  • 症例 Nodular Plexiform Neurofibromaが多発した神経線維腫症1型の1例
  • ショウレイ Nodular Plexiform Neurofibroma ガ タハツ シタ シンケイ センイ シュショウ 1ガタ ノ 1レイ

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Description

A 25-year-old man had untreated brown macules on the trunk and extremities that had become apparent at 4 years of age. Subcutaneous nodules appeared on the trunk and extremities at 20 years of age and subsequently increased in number and size. Our initial physical examination revealed freely movable, elastic soft, subcutaneous nodules of 1 × 1 to 4 × 1 cm (fusiform) in the trunk and extremities as well as brown macules of various sizes on the entire body. The nodules on the back were slightly tender. One of the nodules on the left forearm was completely resected. Based on clinical features and radiologic and histopathologic findings, we diagnosed the disease as neurofibromatosis type 1(NF1) with multiple nodular plexiform neurofibromas (nodular PNF). The patient has been followed without any further surgical resection. NF1 with multiple nodular PNF instead of cutaneous neurofibroma is relatively uncommon. The radiologic findings are thought to be useful for diagnosis and follow up.

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