Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.
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DOI:
10.1136/jmg.2009.073965
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发表时间:
2010-08
影响因子:
4
通讯作者:
Legius E
Legius E
中科院分区:
医学1区
文献类型:
--
作者:
Stewart DR;Sloan JL;Yao L;Mannes AJ;Moshyedi A;Lee CC;Sciot R;De Smet L;Mautner VF;Legius E

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Glomus tumors are benign painful tumors of the glomus body, a thermoregulatory shunt in the digits. Glomus tumors of the fingers and toes are associated with the monogenic disorder neurofibromatosis type 1 (NF1) and are recently recognized as part of the NF1 phenotype. We report our multi-institutional experience with 15 individuals with NF1 and glomus tumors of the fingers or toes. The majority of individuals presented with at least two of the symptoms in the classic triad of localized tenderness, severe paroxysmal pain and sensitivity to cold. Appearance of the nail and finger or toe is often normal. Women are affected more often than men. Multi-focal tumors are common. There is often a delay in diagnosis of many years and clinical suspicion is key to diagnosis, although magnetic resonance imaging may be useful in some scenarios. Surgical extirpation can be curative, however local tumor recurrence and metachronous tumors are common. Three of our patients developed signs and symptoms of the complex regional pain syndrome. Glomus tumors in NF1 are more common than previously recognized and NF1 patients should be specifically queried about fingertip or toe pain.
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发表时间: 2004-11-01
影响因子: 4
作者:
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