Literature DB >> 29520415

Recurrent multiple neurofibromatosis type  1 of the right lower limb.

Leitao Huang1, Xia Wu2, Yi Ding1, Lai Qi1, Wei Li1, Gendong Huang1, Min Dai3, Bin Zhang4.   

Abstract

Neurofibromatosis type 1 is an autosomal dominant inherited disease, which is characterized by the presence of multiple neurofibromas. We encountered a case in which a sporadic dispersed neurofibroma recurred locally on numerous occasions extending over 16 years. The patient developed multiple masses with a focus of neurofibroma on the right lower limb, which were excised. The patient was initially diagnosed with inflammatory changes via computed tomography and magnetic resonance imaging; however, subsequently, pathological and immunohistochemical examinations revealed an intraneural neurofibroma. The patient underwent a comprehensive and complete local resection several times. After a continuous postoperative follow-up strategy, the patient recovered well. This report describes a case of primary manifestations of multiple and recurrent neurofibromas. We aim to emphasize the possibility of a unique, recurrent, non-healing neurofibroma and review the diagnostic techniques utilized to reach a definitive diagnosis. Early and complete surgical resection is an effective method to treat and prevent this type of neurofibroma.

Entities:  

Keywords:  Case study; Computed tomography; Neurofibroma; Recurrence; Surgery

Mesh:

Year:  2018        PMID: 29520415     DOI: 10.1007/s00132-017-3518-z

Source DB:  PubMed          Journal:  Orthopade        ISSN: 0085-4530            Impact factor:   1.087


  23 in total

Review 1.  Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1.

Authors:  R M Reynolds; G G P Browning; I Nawroz; I W Campbell
Journal:  Lancet       Date:  2003-05-03       Impact factor: 79.321

2.  Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population.

Authors:  M E Zöller; B Rembeck; A Odén; M Samuelsson; L Angervall
Journal:  Cancer       Date:  1997-06-01       Impact factor: 6.860

3.  Neurofibroma of the facial nerve.

Authors:  S L Sellars
Journal:  S Afr Med J       Date:  1972-09-16

4.  Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Authors:  Inga-Marie Schaefer; Philipp Ströbel; Aung Thiha; Jan Martin Sohns; Christian Mühlfeld; Stefan Küffer; Gunther Felmerer; Adam Stepniewski; Silke Pauli; Abbas Agaimy
Journal:  Int J Clin Exp Pathol       Date:  2013-11-15

5.  Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Authors:  M Upadhyaya; Lan Kluwe; G Spurlock; Bisma Monem; E Majounie; K Mantripragada; Martino Ruggieri; N Chuzhanova; D G Evans; R Ferner; N Thomas; A Guha; V Mautner
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

Review 6.  Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations.

Authors:  Abbas Agaimy; Nikolaos Vassos; Roland S Croner
Journal:  Int J Clin Exp Pathol       Date:  2012-10-20

Review 7.  Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

Authors:  Hilde Brems; Eline Beert; Thomy de Ravel; Eric Legius
Journal:  Lancet Oncol       Date:  2009-05       Impact factor: 41.316

8.  Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Authors:  Carles Garcia-Linares; Juana Fernández-Rodríguez; Ernest Terribas; Jaume Mercadé; Eva Pros; Llúcia Benito; Yolanda Benavente; Gabriel Capellà; Anna Ravella; Ignacio Blanco; Hildegard Kehrer-Sawatzki; Conxi Lázaro; Eduard Serra
Journal:  Hum Mutat       Date:  2011-01       Impact factor: 4.878

Review 9.  Neurofibromatosis type 1 revisited.

Authors:  Virginia C Williams; John Lucas; Michael A Babcock; David H Gutmann; Bruce Korf; Bernard L Maria
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

10.  Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study.

Authors:  O O Seminog; M J Goldacre
Journal:  Br J Cancer       Date:  2012-12-20       Impact factor: 7.640

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