Von Recklinghausen Disease
Von Recklinghausen Disease Causes
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.
Von Recklinghausen Disease Definition
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).
Von Recklinghausen Disease Diagnosis
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 caf?-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.
Von Recklinghausen Disease Symptoms and Signs
Person with Von Recklinghausen Disease often shows and develop flat pigmented lesions of the skin called caf? 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.
Von Recklinghausen Disease Treatment
Therapy includes radiation therapy, chemotherapy, surgical resection or through decompression of the lesion and third face transplant.