Von Recklinghausen Disease

Below you will find more information about Von Recklinghausen Disease from Medigest. If you believe that you are suffering from any of the symptoms of Von Recklinghausen Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Von Recklinghausen Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Von Recklinghausen Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Von Recklinghausen Disease otherwise known as the Neurofibromatosis type I (NF-1) is an autosomal dominant disease characterized by pigmented skin lesions, skin tumors that develop along the peripheral nerves, multiple spiral and cranial nerve tumors and associated gliomas and intracranial meningiomas (Bruce Ostlertt, et al. (2003) Disease of the Eye and Ski n: A Color Atlas, Lippincott, Williams and Wilkins, p.95).


Diagnosis includes examination of the clinical features. Normally, to confirm the presence of the medical condition, two of the seven cardinal clinical features are required, to wit: 6 or more cafΘ-au-lait macules, 2 or more neurofibromas of any type or 1 plexiform neurofibroma, optic glioma 2 or more lish nodules, a distinctive ossesous lesions such as sphenoid dysplasia and the presence of a first degree relative having the same medical condition or criteria.


Therapy includes radiation therapy, chemotherapy, surgical resection or through decompression of the lesion and third face transplant.

Symptoms and Signs

Person with Von Recklinghausen Disease often shows and develop flat pigmented lesions of the skin called cafΘ au lait spots (Hyman, S.L. et al. (2003). Natural History of Neuropsychological Ability and T2-Hyperintensities in Patients with Neurofibromatosis Type 1. Neurology, 60(7), 1139-1145). However, there are also individuals who shows no symptoms at all while others may have rapidly progressive disorder. Disfigurement and cutaneous neurofibroma are often seen with people with this medical condition. The most common complication in patients having this condition is the disability in cognitive and learning.


It is a genetic disorder which is often inherited. It is said to be caused by the mutation of a gene on the long arm of chromosome 17 which is responsible for encoding a protein called neurofibromin which plays a vital role in intracellular signaling.

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