Reports of families suffering from neurofibromatosis and other genetic disorders

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 Integral y Genética Clínica. Profesora Asistente. Centro Provincial de Genética Médica Pinar del Río.
  • Ana Isabel Sánchez Álvarez de La Campa Especialista de Primer Grado en Medicina General Integral. Profesora Instructora. Sede universitaria Municipal San Juan y Martínez. Servicio Municipal de Genética Médica San Juan y Martínez.

Keywords:

NEUROFIBROMATOSES/genetics/classification/diagnosis, MUSCULAR DISTROPHIES/genetics.

Abstract

Neurofibromatosis type-1 is a genetic condition that affects the development and cellular growth of the nervous system, which is clinically characterized by multiple café-au-lait spots, neurofibromas, freckles in non-sun exposed regions, Lisch nodules, osseous lesions and optic glioma. The present paper describes two families, having some individuals suffering from this condition and other members of the same family who present a different genetic condition. The intrafamilial coexistence of two different genetic conditions is very rare, that is why a literature review and a scientific research about the topic were carried out.

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References

1. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1. Pediatrics. [Internet]. 2009 [Citado mayo 2011]; 123(1): [Aprox. 10p.]. Disponible en: http://www.pediatrics.org/cgi/content/full/123/1/124

2. Haggstrom A, Frieden I. Segmental Hemangioma: An Important Clinical Term. American Journal of Medical Genetics Part A. [Internet]. 2008 [Citado mayo 2011]; 146(5): [Aprox. 1p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/18241074

3. Theos A, Bruce R. Pathophysiology of Neurofibromatosis Type 1. Annals of Internal Medicine. [Internet]. 2006 [Citado mayo 2011]; 144(11): [Aprox. 7p.]. Disponible en:http://www.ncbi.nlm.nih.gov/pubmed/16754926

4. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. [Internet]. 2007 [Citado mayo 2011]; 44(2): [Aprox. 7p.]. Disponible en: http://jmg.bmj.com/content/44/2/81.full

5. K Janniger C . Klippel-Trenaunay-Weber Síndrome. [Internet]. Medscape; 2010 [Citado Mayo 2011]. Disponible en: http://emedicine.medscape.com/article/1084257-overview

6. Beiro AC, Carvalho Dantas JF, Conte Neto N, Bastos Nasciben M, Scarso Filho J. Neurofibromatose: uma desordem hereditária: relato de caso de ocorrência em mãe e filha. Rev Ciênc Méd Biol. [Internet]. 2008 [Citado mayo 2011]; 7(2): [Aprox. 4p.]. Disponible en: http://www.portalseer.ufba.br/index.php/cmbio/article/view/4453

7. Gonçalves KS, Geller M, Soares de Mouro NR, Lopes SV. Genética da neurofibromatose tipo 1. Rev Ciênc Méd Biol. [Internet]. 2007 [Citado mayo 2011]; 6(3): [Aprox. 10p.]. Disponible en: http://www.portalseer.ufba.br/index.php/cmbio/article/view/4396/3224

8. Ruggieri M. Mosaic (Segmental) Neurofibromatosis Type 1 (NF1) and Type 2 (NF2): No Longer Neurofibromatosis Type 5(NF5). American Journal of Medical Genetics. [Internet]. 2001 [Citado mayo 2011]; 101(2): [Aprox. 2p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/11391665

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Published

2011-12-23

How to Cite

1.
Orraca Castillo M, Licourt Otero D, Sánchez Álvarez de La Campa AI. Reports of families suffering from neurofibromatosis and other genetic disorders. Rev Ciencias Médicas [Internet]. 2011 Dec. 23 [cited 2025 Aug. 29];15(4):260-8. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/854

Issue

Vol. 15 No. 4 (2011)

Section

CASE REPORTS

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