WELCOME to the website for "confer" the only Scottish charity working to support people living with Neurofibromatosis.

"confer" does this by providing accurate and up to date information on Neurofibromatosis to the people with the condition, their families, friends, carers, employers, health and educational professionals working with them.

Perhaps even more important is the chance to join our support groups, fundraising groups and focus groups where you will meet others who share the same concerns and interests. Membership is free - just register your details on our database.

WHAT IS NEUROFIBROMATOSIS?

The neurofibromatoses are dominantly inherited genetic disorders of the nervous system that primarily affect the development and growth of the nervous system. These disorders cause none cancerous tumours to grow on nerves (neurofibromas) and produce other abnormalities such as skin changes (café-au-lait patches) and bone deformities (scoliosis). Although many affected persons inherit these disorders from their parents, between 30 and 50 percent of new cases arise through spontaneously gene changes in individual's genes associated with these disorders. Once this change has taken place, the mutant gene can be passed on to succeeding generations.

Traditionally the neurofibromatoses are classified into neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). However more recently a third type has been identified called Legius Syndrome, which presents with symptoms similar to NF1. All are completely separate conditions and are due to gene changes in 3 different genes.

NF1 or Von Recklinghausen Disease, is caused by changes in the NF1 gene which codes for the Neurofibromin protein, is the most common type of the neurofibromatoses with a birth incidence of about 1 in 2,500. Diagnosis is due to a combination of signs and symptoms which present at different ages. Abnormal skin pigmentation is the most common of presentations and is often evident at birth or during infancy and almost always by the time a child is about 5 years old. NF1 is a progressive disorder with gradual accumulation of neurofibromas with age and is associated with an increase risk of hypertension, epilepsy, scoliosis and malignant nerve sheath tumours.

NF2, caused by changes in the NF2 gene which codes for the Merlin protein, is less common with an estimated birth incidence of about 1 in 30,000. NF2 is characterized by bilateral tumours on the eighth cranial nerve. These tumours cause pressure damage to neighbouring nerves. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumours, may also occur.

confer-scotland.org.uk made possible by the generosity of Lynne Corbett.
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