Two Cases of Neurofibromatosis Type 1 Associated with Subungual Glomus Tumors ; A Molecular Possible Pathogenesis

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  • 爪甲下グロムス腫瘍を合併した神経線維腫症1型の2例　―その発症に関わる遺伝子異常について―
  • ソウコウ カ グロムス シュヨウ オ ガッペイ シタ シンケイ センイ シュショウ 1ガタ ノ 2レイ : ソノ ハッショウ ニ カカワル イデンシ イジョウ ニ ツイテ

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Abstract

Two cases of neurofibromatosis type 1 (NF1) with glomus tumors are reported. Case 1 was a 19 years old female with NF1 and a subungual painful glomus tumor on the right little finger. Case 2 was a 37 years old female with NF1 who had painful subungual glomus tumors on the left ring finger and left thumb. Both cases had family histories of NF1, but not of glomus tumors. Recently a linkage to the locus VMGLOM (1p22-p21) has been found for familial glomus tumors. The NF1 locus is 17q11.2. We showed that the glomus tumors associated with NF1 clinically more resembled sporadic glomus tumors than familial glomus tumors. We suspected that a mutation of the NF1 gene could be responsible for the pathogenesis of such glomus tumors seen with NF1.

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