Painful tumors in a patient with neurofibromatosis type 1: a\xa0case report

Niema Aqil,Fatima Zahra Mernissi,Salim Gallouj,Kaoutar Moustaide

doi:10.1186/s13256-018-1847-0

Niema Aqil, Fatima Zahra Mernissi + Show 2 more

Open Access

https://doi.org/10.1186/s13256-018-1847-0

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Abstract

BackgroundHerein, we report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1.Case presentationThe patient was a 37-year-old Moroccan woman, suffering from neurofibromatosis type 1, with intense pain in the fingers, successfully treated with the excision of the tumors. Histology of the lesions confirmed the diagnosis of glomus tumor.ConclusionWe present this case to support the association between glomus tumors and neurofibromatosis type 1. Thus, we strongly recommend that one should suspect a glomus tumor in patients with neurofibromatosis type 1 if such patients have symptoms from finger pulp or nails.

Highlights

We report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1
We strongly recommend that one should suspect a glomus tumor in patients with neurofibromatosis type 1 if such patients have symptoms from finger pulp or nails
Neurofibromatosis type 1 (NF1), known as Von Recklinghausen’s disease, is an autosomal dominant disorder, with an incidence of 1 in 2500–3000 births and a prevalence of approximately 1 in 4000–5000 individuals [1]. It is caused by mutations in the NF1 tumor suppressor gene, located on chromosome 17 (17q11.2), which encodes neurofibromin, a protein able to downregulate the Ras-Raf/mitogen-activated protein kinase (MAPK) signaling pathway that activates cell proliferation [2]

Summary

Introduction

We report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1. We strongly recommend that one should suspect a glomus tumor in patients with neurofibromatosis type 1 if such patients have symptoms from finger pulp or nails. Mutations of the NF1 gene result in alteration or loss of function of the negative regulator of growth and cellular differentiation of neurofibromin, leading to uncontrolled cell proliferation and increased risk of developing cancer [3, 4]. The association of glomus tumors of the fingers with NF1 is rarely observed [5].

Results

Conclusion