Nf 1 Explained

Nf1 is a Genetic disorder caused by mutation of genes on chromosome 17. It affects one in every 2,500 people, and is equally common in both sexes, of all racial and ethnic backgrounds. 50% of all cases are inherited and 50% the result of spontaneous mutation.

Diagnosis of Nf1

The care of persons with Nf is made complex by the wide range of expression of the disorder. It is difficult to predict the specific problems that will occur in a particular individual. Diagnosis is made if an individual has two or more of the following features.

The diagnosis is based on the following clinical criteria:

	Six or more (café au lait) coffee coloured patches sized 5mm or over in pubertal individuals and over 15mm in size in post pubertal individuals.
	Freckling under the arm or in the groin area.
	Two or more Neuro Fibromas of any type (growth of tumours on nerve tissue anywhere on the body) usually first seen on the skin.
	Plexiform Neurofibromas - large bundle of nerves are thickened and appear as a soft tissue mass under the skin. These growths often large, can change the normal shape of the body.
	Optic Glioma: thickening of the optic nerve.
	Lisch Nodules - clumps of pigment cells that occur on the iris of the eye.
	Orthopaedic problems include scoliosis (curvature of the spine), and abnormal bone development, such as overgrowth in long bones causing bowing and deformity that result in fractures, which fail to heal.
	First-degree relative with Nf (e.g. parent, sibling, offspring).
	Learning Difficulties: As many as 60% of children with Nf have short attention span, appear clumsy and uncoordinated. Problems particularly with arithmetic and spelling are common.

How Serious Is It?

Complications can include:

	Learning difficulties
	Behavioural problems
	High blood pressure (hypertension)
	Curvature of the spine (scoliosis)
	Malformation of the long bones (below the knee and below the elbow) (pseudarthrosis)
	Large benign skin tumours (plexiform neurofibroma)
	Tumours on the nerves of sight (optic glioma)
	Internal, spinal and brain tumours - usually benign
	Speech problems
	Increased risk of epilepsy
	Hearing defects