Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Authors

  • Miladys Orraca Castillo Especialista de Segundo Grado en Genética Clínica. Profesora Auxiliar. Centro Provincial de Genética Médica. Pinar del Río.
  • Deysi Licourt Otero Especialista de Primer Grado en Medicina General. Especialista de Primer y Segundo Grado en Genética Clínica. Asistente. Centro Provincial de Genética Médica. Pinar del Río.

Keywords:

Plexiform neurofibroma/diagnosis, genetics, complications, Neurofibromatoses/genetics, classification, diagnosis.

Abstract

Plexiform neurofibroma is a complex tumor involving several tissues, this tumor provokes a massive distortion of the region where it is located leading to esthetical and medical problems. This work was aimed at knowing the frequency of plexiform neurofibromas in patients suffering from Type-1 neurofibromatosis, location, prevalence of sex and other clinical-genetic characteristics to design a protocol of diagnosis and treatment of plexiform neurofibromas in Pinar del Rio province. A descriptive, cross-sectional study was carried out in patients suffering from plexiform neurofibroma. Out of the total of patients, 34 presented plexiform neurofibroma, female sex prevailed. The majority of plexiform neurofibromas were located in limbs, torso and skull-face. The hyperpigmentation and the hypertrichosis were the most frequent clinical signs. A protocol was designed to accomplish the diagnosis and treatment of the patients affected.

Downloads

Download data is not yet available.

References

1. Joseph H. Hersh, MD. Health Supervision for Children with Neurofibromatosis. Pediatrics [Internet]. Mar 2008 [citado 8 Jun 2012];121(3):[aprox. 12 p.]. Disponible en: http://neoreviews.aappublications.org/content/pediatrics/121/3/633.full.pdf+html

2. Ferner RE. Neurofibromatosis 1. Eur J Hum Genet [Internet]. 2007 [citado 8 Jun 2012]; 15(2):[aprox. 8 p.]. Disponible en: http://www.nature.com/ejhg/journal/v15/n2/pdf/5201676a.pdf

3. Casanova RT, González BC. Neurofibromatosis tipo 1. Medicentro 2008; 12(3): 1-5. http://www.medicentro.sld.cu/paginas%20de%20acceso/Sumario/ano%202008/v12n3a08.htm

4. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis Type 1 Revisited. Pediatrics [Internet]. Ene 2009 [citado 8 Jun 2012]; 123(1): [aprox. 12 p.]. Disponible en: http://pediatrics.aappublications.org/content/123/1/124.full.pdf+html

5. Dombi E, Solomon J, Gillespie AJ, Fox E, Balis FM, Patronas N, et al. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurology [Internet]. Feb 2007 [citado 8 Jun 2012]; 68(9):[aprox. 5 p.]. Disponible en: http://www.neurology.org/content/68/9/643.short

6. Fisher MJ, Basu S, Dombi E, Yu JQ, Widemann BC, Pollock AN, et al. The role of [18F]-fluorodeoxyglucose positron emission tomography in predicting plexiform neurofibroma progression. J Neurooncol [Internet]. 2008 [citado 8 Jun 2012];87(2):[aprox. 7 p.]. Disponible en: http://dx.doi.org/10.1007/s11060-007-9501-5

7. Ferner RE, Golding JF, Smith M, Calonje E, Jan W, Sanjayanathan V, et al. [18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs): a long-term clinical study. Ann Oncol [Internet]. Feb 2008 [citado 8 Jun 2012];19(2):[aprox. 5 p.]. Disponible en: http://annonc.oxfordjournals.org/content/19/2/390.full.pdf+html

8. Jacquemin C, Bosley TM, Svedberg H. Orbit Deformities in Craniofacial Neurofibromatosis Type1. AJNR Am J Neuroradiol [Internet]. Sep 2003 [citado 8 Jun 2012];24(8):[aprox. 5 p.]. Disponible en: http://www.ajnr.org/content/24/8/1678.full.pdf+html

9. Lammert M, Friedman JM, Roth HJ, Friedrich RE, Kluwe L, Atkins D, et al. Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1. J Med Genet [Internet]. Sep 2003 [citado 8 Jun 2012]; 43(10): [aprox. 5 p.]. Disponible en: http://jmg.highwire.org/content/43/10/810.full.pdf+html

10. Gachiani J, Kim D, Nelson A, Kline D. Surgical management of malignant peripheral nerve sheath tumors. Neurosurg Focus. Jun 2007; 22(6):13. PubMed PMID: 17613204.

11. Ferner RE. Neurofibromatosis 1. European Journal of Human Genetics [Internet]. 2007 [citado 8 Jun 2012]; 15(2):[aprox. 8 p.]. Disponible en: http://www.nature.com/ejhg/journal/v15/n2/pdf/5201676a.pdf

Published

2012-09-03

How to Cite

1.
Orraca Castillo M, Licourt Otero D. Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio. Rev Ciencias Médicas [Internet]. 2012 Sep. 3 [cited 2025 Aug. 29];16(4):25-3. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/953

Issue

Section

ORIGINAL ARTICLES