About
Von Recklinghausen's disease, commonly known as Neurofibromatosis (NF), is an inheritable genetic disorder. It is caused by mutations in NF1 or NF2 gene.
There are three forms of Von Recklinghausen’s Disease: Neurofibromatosis type-1 or NF1, neurofibromatosis type-2 (NF2) and Schwannomatosis, classified as a variant of NF2.
Neurofibromatosis (NF) is autosomal dominant genetic disease, wherein you need to inherit an abnormal / diseased gene from only one parent to get the disease. The disease derives its name from the German pathologist Friedrich Daniel von Recklinghausen who first described the condition in 1882.
Patients with Neurofibromatosis develop multiple soft nerve-tumors (neurofibromas) and very often skin spots (café au lait spots). The disease can cause bones deformities and also affect the skin.
Although an autosomal dominant disease, approximately 50% of the cases reported are clinically sporadic. Thus a large number of cases of Neurofibromatosis(NF) are due to a spontaneous mutation, i.e. a change in a person's gene rather than a mutation inherited from a parent. NF has a prevalence of 1 in 3000 births.
- Von Recklinghausen’s Disease - (http://www.healthline.com/health/neurofibromatosis-1)
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Avinash Ramani. (2019, December 03). Von Recklinghausen's Disease | Neurofibromatosis Type 1. Medindia. Retrieved on Jun 05, 2023 from https://www.medindia.net/patients/patientinfo/von-recklinghausens-disease.htm.
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Avinash Ramani. 2019. Von Recklinghausen's Disease | Neurofibromatosis Type 1. Medindia, viewed Jun 05, 2023, https://www.medindia.net/patients/patientinfo/von-recklinghausens-disease.htm.
Latest Publications and Research on Von Recklinghausen's Disease
- Soft tissue sarcoma in neurofibromatosis type 1: A rare case of malignant peripheral nerve sheath tumor of the skin. - Published by PubMed
- A Huge Pelvic-Abdominal Malignant GIST Tumour in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review. - Published by PubMed
- Malignant peripheral nerve sheath tumor in the nasopharynx and oropharynx: a case report. - Published by PubMed
- [A Case of Neurofibromatosis Type 1 Presenting Voiding Symptoms Caused by Giant Bladder Diverticulum]. - Published by PubMed
- Giant Malignant Peripheral Nerve Sheath Tumor of the Head and Neck: A Case Report and Literature Review. - Published by PubMed
Good morning sir.my name is kavitharaj and iam 28 years old.Ten years back that is when i was17 years old i have undergone an operation for tumor near the right side of my chest.The tumor was diagonised as schwannoma.After one year i started developing small boils on my chest and back.although there is no pain or burning sensation it is a cause of concern for me regarding appearance wise.Sir kindly help me out if there is any kind of cure for this boils to go.Iam also worried whether in any case this will effect my children after marriage.Sir iam also attaching all my reports regarding my operation and diagnosis.Please give me guide sir how to remove boils on my chest and back. Recently i have listen about gentic testing its use for cure boils
Hi Kavitharaj, I would suggest you to visit a renowned doctor in your city and get treated immediately. These small boils may gradually grow bigger and become more painful.
sir i had see abt genetic test its is better for my boils
I have NF 1 from birth and was discovered in 2009 when I had a biopsy done on a lump on my left hand. I have since gotten ill and had to stop working as a med. assistant when I lost my sight at work. I am in a state of constant pain...what can I do to ease the pain?
i have this problem ad when its small its pain when i touch ad after its grown big no pain ad i hv sum in mi body can u plz advice me
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