Come scoprire la neurofibromatosi?
Come scoprire la neurofibromatosi?
La diagnosi di NF1 si formula quando c'è la presenza di due o più delle seguenti alterazioni:
- macchie della pelle di colore marrone chiaro (dette “macchie caffellatte”) in numero minimo di 6.
- neurofibromi (in numero minimo di 2)
- lentiggini alle ascelle o all'inguine.
- noduli di Lisch in numero superiore o uguale a 2.
Che cosa è la neurofibromatosi?
Il termine neurofibromatosi si riferisce a un gruppo di malattie genetiche rare incluse nel più esteso gruppo delle cosiddette sindromi neurocutanee, vale a dire quelle condizioni genetiche caratterizzate principalmente da un interessamento della cute e del sistema nervoso.
What is the incidence of neurofibromatosis type 1 (NF1)?
- The incidence of NF1 is approximately one in 3,000 live births and it affects males and females of all races equally. Because neurofibromatosis type 1 is hereditary, the risk of developing the features associated with NF1 may be passed from generation to generation in a family.
What does neurofibromatosis 1 mean?
- Neurofibromatosis 1. An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST.
What is neurofibromatosis type 1 for children?
- Yearly physical exams that include blood pressure monitoring by a doctor who knows this condition well.
- Annual vision screening by an ophthalmologist in early childhood,which can become less frequent as the child gets older.
- Regular assessments of development and school progress,as deemed necessary by by doctors caring for the child.
