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Neurofibromatosis: Genetic Disease

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Neurofibromatosis - Georgie and Jennifer. Brief Definition - Neurofibromatosis is a genetic disease in which patients develop multiple soft tumours underneath the skin and in the nervous system. Neurofibromatosis has two different types which are categorised due to the rarity and symptoms of the disease. Describe the characteristics of the genetic disease: What are the symptoms? Neurofibromatosis is categorised into two different types, NF1 and NF2. The symptoms are one of the two things that separate the two different types. NF1 – The most common symptoms of NF1 is as follows – - The painless appearance of coffee coloured spots on the skin – known as café au lait spots. - Clusters of freckles in unusual places such as under the armpits, …show more content…

However there are treatments that can slow down the process of the disease. Surgery is often suggested because of the tumours that can become cancerous and tumours that can cause body disfigurement. The symptoms that are ongoing throughout the disease like severe headaches they can be cured with medication. Children that inherit the disease at birth have a higher chance of having learning difficulties and neurological tests have to be taken before the child enters school and neurological counselling is a common solution to help the child be able to …show more content…

The NINDs national institute of health has detailed the amount of funding that has gone into their research and the surrounding research institutes. The have also detailed the targets and possible goals for the future funding wise and what they hope to achieve. The key points of interest for funding are: - Interactive funding – funding for mouse models is imperative. - Other needs include understanding how to preclinical test on a mice. - Core facilities such as – tissue bank and a network for clinical researchers to be able to contact each other. - The database that has been around for numerous years needs to be checked for usefulness. - Facilitating communication between patients and clinicians is needed - Establish specialized research centres that define clinical characteristics. - Establishing NF centres for patients. - Grant proposals and fund joint initiatives for NF research. - Having SPOREs (specialized programs of research excellence) - Workshops to inform NF researchers about possible funding

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A. Petechiae Pinpoint hemorrhagic areas that occur during birth and disappear 2-3 days after birth B. Forceps Marks Linear marks across both sides of the face in the shape of the blades of the forceps. Marks resolve on their own over several days C. Pathologic Jaundice Higher levels of unconjugated bilirubin that appears in the first 24hrs and requires phototherapy to resolve D. Port wine stain Red birthmarks that are smooth made up of tiny capillaries. They are not blanch on pressure or disappear E. Hemangioma Raised growth that is bright or dark red F. Café Au Lait Spots Flat pigmented birthmarks Head: Normal Finding or Definition A. Relationship to body Makes up ¼ of the body length B. Relationship to Chest 2-3 cm less than head circumference

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