Genetic condition: One in 3,000 people in Ireland may have a little-known genetic condition called neuro-fibro matosis, which can lead to disfiguring marks on the skin but which is believed to be significantly under-diagnosed here.
A series of medical education meetings for the public to be held around the country this week will hear that the condition is not widely known among the medical profession and that some patients in the past have been mistakenly informed that neuro-fibro matosis is the disease suffered by Joseph Merrick, the 19th century Englishman who was known as the "elephant man" because of his disfigured appearance.
Consultant clinical geneticist to St Mary's Hospital, Manchester Dr Sue Huson will tell the meetings that neuro-fibro matosis is caused by a genetic abnormality and is believed to affect one in every 3,000 people. However, she told The Irish Times last night that it was not as well known as other genetic conditions such as cystic fibrosis or muscular dystrophy.
She said that up to now it was considered "a bit of a medical oddity" and not taken too seriously. She said that because doctors in different branches of the medical profession only dealt with a small number of cases each, the condition was not widely publicised. However, she said that it had now emerged that a significant number of children with the condition can have learning difficulties or behavioural problems such as ADHD.
Dr Huson said the first manifestation of one type of neuro-fibro matosis came in early childhood with the appearance of flat, brown, coffee-coloured marks "about the size of a euro or larger on the skin". She said the appearance of six or more of these marks almost certainly confirms that the person has the condition.
From the teenage years the condition develops with fibrous lumps growing on nerve endings which manifest themselves as reddish lumps on the skin. Dr Huson said that, in some cases, the fibrous lumps can grow internally and cause difficulties around the spine or the gut.
The meetings, organised by the Neuro-Fibro Matosis Association of Ireland, will be held tomorrow, in the Newpark Hotel, Kilkenny, on Thursday in the Strand Hotel, Limerick, on Friday in the Tullamore Court Hotel and on Saturday in the Share Holiday Village, Lisnaskeagh.
