Osteofibroma in type I neurofibromatosis.

Background: Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by a mutation in the NF1 gene on chromosome 17q11.2. There is insufficient evidence in the literature regarding the prevalence and incidence of neurofibromatosis type 1 in Hispanic populations, including Mexico. However, globally, the prevalence is estimated at 1 in 3,164 individuals and the incidence at 1 in 2,662 individuals. Due to its multisystemic alteration, a wide variability of the clinical spectrum is presented and bone manifestations and the presence of an increased risk of tumor development stand out, no cases have been reported where osteofibromas are a characteristic clinical manifestation of the disease, however, in this work we present the case of a female patient in her sixth decade of life with Neurofibromatosis type 1 with no other relevant history who has undergone multiple local resections of neurofibromas in different parts of the body, but with the presence of an osteofibroma in the left parietoccipital region, considered an uncommon clinical entity within those described in the characteristic clinical manifestations of Neurofibromatosis type 1. A multidisciplinary approach has been taken to manage osteofibroma, however, to date, no specific medical-surgical management has been defined. Keywords: Osteofibroma, neurofibromatosis.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-07-13
DOI
https://doi.org/10.5281/zenodo.15874880
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
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article

Osteofibroma in type I neurofibromatosis.

Zenodo (CERN European Organization for Nuclear Research)
Neurofibromatosis and Schwannoma Cases
article

Osteofibroma in type I neurofibromatosis.

article en

Abstract

Background: Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by a mutation in the NF1 gene on chromosome 17q11.2. There is insufficient evidence in the literature regarding the prevalence and incidence of neurofibromatosis type 1 in Hispanic populations, including Mexico. However, globally, the prevalence is estimated at 1 in 3,164 individuals and the incidence at 1 in 2,662 individuals. Due to its multisystemic alteration, a wide variability of the clinical spectrum is presented and bone manifestations and the presence of an increased risk of tumor development stand out, no cases have been reported where osteofibromas are a characteristic clinical manifestation of the disease, however, in this work we present the case of a female patient in her sixth decade of life with Neurofibromatosis type 1 with no other relevant history who has undergone multiple local resections of neurofibromas in different parts of the body, but with the presence of an osteofibroma in the left parietoccipital region, considered an uncommon clinical entity within those described in the characteristic clinical manifestations of Neurofibromatosis type 1. A multidisciplinary approach has been taken to manage osteofibroma, however, to date, no specific medical-surgical management has been defined. Keywords: Osteofibroma, neurofibromatosis.

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being, Gender equality
Openalex Percentile: Top 42%
Neurofibromatosis and Schwannoma Cases
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