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Las neurofibromatosis son un grupo de enfermedades genéticas que hace que las personas tengan una predisposición a desarrollar tumores benignos alrededor de los nervios y en la piel.
Existen tres tipos de neurofibromatosis, cada uno con diferentes signos y síntomas:
Neurofibromatosis tipo 1
Por lo general, la neurofibromatosis tipo 1 aparece en la infancia. Los signos suelen ser evidentes antes de los 10 años. Los signos y síntomas suelen ser de leves a moderados, pero pueden variar en su intensidad.
Neurofibromatosis tipo 2
La neurofibromatosis tipo 2 es mucho menos frecuente. Los signos y síntomas aparecen, por lo general, como resultado del desarrollo de tumores benignos que crecen lentamente en los dos oídos.
Schwannomatosis
Este tipo raro de neurofibromatosis, normalmente, afecta a las personas después de los 20 años. La schwannomatosis provoca la formación de tumores en los nervios craneales, espinales y periféricos.
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Origen de las neurofibromatosis
Herencia autosómica dominante:
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Son heredadas y unas de las enfermedades autosómicas dominantes más comunes en los seres humanos.
Existe también la mutación espontanea “de novo” donde los padres no tienen ninguna alteración cromosómica. La mitad de los casos diagnosticados de NF son de mutación espontánea.
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Síntomas de la NF1
Algunos de los signos y síntomas son:
- Manchas «café con leche».
- Neurofibromas.
- Pecas en las axilas o ingles.
- Nódulos de Lisch.
- Lesiones óseas (crecimiento anormal).
- Glioma óptico.
- Dificultades de aprendizaje.
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Síntomas de la NF2
Los signos y síntomas pueden comprender los siguientes:
- Pérdida de la audición gradual.
- Zumbido en los oídos.
- Equilibrio deficiente.
- Dolores de cabeza.
- Schwannomas.
- Problemas de visión.
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Síntomas de la Schwannomatosis
El síntoma más frecuente es el dolor crónico, de leve a grave, que puede afectar a cualquier parte del organismo.
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Causas genéticas
Localización de los genes:
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La confirmación del diagnóstico se debe realizar mediante una evaluación genética. En las neurofibromatosis los genes mutados dejan de hacer su labor de impedir el crecimiento descontrolado de las células.
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