Here are some information's about neurofibromatosis. Hope it can help you to understand about neurofibromatosis.
Neurofibromatosis is complicated. It comes in many form and effect individuals differently. Yet, it is the most common disorder currently classified as a "rare disease".
Neurofibromatosis are classified as follows:
Neurofibromatosis type 1 (NF-1)
Neurofibromatosis type 1 (NF-1), formerly called von Recklinghausen's Disease or peripheral neurofibromatosis, is thought to occur in 1 of 2,500 births. The gene for NF-1 is on chromosome 17. NF-1 can be characterised by:
· Tumours of varying sizes on or under the skin
· Lisch nodules on the iris of the eyes
· Freckling in the underarm or groin area
· Possible learning disabilities
· Possible bone deformities, including scoliosis
· Possible optic glioma
· Possible family history of NF
· Symptoms sometimes present at birth
Neurofibromatosis type 2 (NF-2 or bilateral acoustic NF) Is estimated to occur in 1 of 30,000 births. The gene for NF-2 is on chromosome 22. NF-2 can be characterised by:
· vestibular schwannomas on both hearing nerves, often resulting in hearing loss and/or balance problems· cataracts or other visual problems at an early age
· symptoms can appear as early as 2 years, but usually during or after puberty
· other tumours of the central nervous system including the brain and spinal cord tumours of the skin.
Schwannomatosis is the most recently recognised form of neurofibromatosis. It causes multiple schwannomas (nerve sheath tumours) to form on the central nervous system and chronic pan. No tumours on the vestibular nerves (as in NF-2) are evident.
The onset of symptoms is usually at puberty or older for both males and females. The precise genetic mechanism of schwannomatosis is unknown at this time.