Neurofibromatose of the type I

This article relates to the neurofibromatose of the type I which does not have any clinical and genetic relationship with the Neurofibromatose of the type II

General information

The neurofibromatose of the type I is also called disease of Recklinghausen of the name of the German Médecin , Friedrich Daniel von Recklinghausen, which it first described this disease in 1881. It is one of most frequent Genetic disease with autosomic transmission dominant. The gene NF1 is one of the genes whose rate of spontaneous change is one of most important at the man: approximately half of the people reached by this disease is the result of a Mutation of novo.

Symptoms of the NF-1

Spots " coffee with the lait"

They are spots of color varying from the clear beige to the dark chestnut and whose size varies for an adult of a few millimetres to several centimetres.

These spots are very frequent in the healthy population (more than 10% of the population has of them one or two), but in the case of the NF-1 their number is of 6 at least, certain patients by having sometimes several tens.

They often appear dice the birth. To be entered, it must at least measure 5 mm in a child and 1,5 cm in an adult.

Neurofibromes

They are tumors benign exits of the nets nervous, one distinguishes three type of neurofibromes:

the cutaneous neurofibromes (or called pépettes): they have an aspect of pseudo-hernia, it are color of the Peau or a little rosier, are dépressibles with the touch, and their palpation does not involve any pain in general. Their size is very variable from one individual to another, and they appear only starting from the Puberté. They can be removed either by the traditional Chirurgie or with the Laser. Opposite: pépette with the eye.
the nodular neurofibromes : small subcutaneous tumors which push along the way of a Nerf, in chain, they have the aspect of ganglia, and are painful with the touch.
the plexiform neurofibromes : In fact tumors often of big size can be invasive and thus pose problems of compression of certain vital bodies. They appear very early in the life, but their growth at the time of puberty points out them. They not easily operable because very vascularized, and are located sometimes inside the corps.

Lentigines

They are small spots like Freckles, but their localization is characteristic: the hollow of the Armpit or the hollow of the Groin. They are present at 80% of the people reached of NF-1.

Nodules of Lisch

They are small coloured nodules located in the irises, difficult to see with the naked eye, one observes them using a lamp with slit. They do not involve any disorder of the Vision of the eye. They are by-against a good element of diagnosis since 90% of the adults reached of NF-1 have some. Histologically, the nodule of Lisch is a Hamartome.

Characteristic osseous deformations

An important curve and a thinning of cortical of the long bones, generally tibia, but also Femur, Radius, Ulna.

Diagnosis

Criteria of diagnosis were established in 1988. The diagnosis of neurofibromatose of the type I is carried when at least two of the following signs are met:

Six spots or more at least measuring 5 mm before puberty and 15 mm after puberty
Two neurofibromes of any type or a plexiform fibrome
Lentigines of the area axillaire or inguinale
Gliome of the optical nerve
Two Nodules of Lisch or more
Of the osseous anomalies like a bone sphénoïde dysplasic or cortical of the bones long ones very fine
a relative of the first degree reached by this disease

Gravity NF-1

The importance of this evolutionary affection is extremely variable from one individual to another. The large majority of the patients present only spots " coffee with milk " present as of the birth, then often appearing with puberty, some benign tumors (neurofibromes cutaneous) of small size and little nombreuses.
Sometimes the cutaneous attack is much more important, very numerous neurofibromes cutaneous of variable size (some being able to reach 3-4 cm in diameter) and neurofibromes plexiform making the life in society difficult because of the glance of the others if these tumors are located on the face or the parts discovered of the corps.
On January 21st and 22nd 2007, the team of the professor Laurent Lantieri of the hospital Henri Mondor of Creteil (the Valley-of-Marne) carried out a Greffe of face (nose, stops, chin, cheeks) on a patient whose face was deformed by bulky plexiform neurofibromes.

A certain number of other problems can also appear:

Complications of the NF-1

Deformations of the Spinal column of the type Scoliosis involving back painses, sometimes the deformation is very important and requires the port of a Corset and even in the cases most serious the recourse to the orthopedic Chirurgie.
body Deformations: caused by plexiform neurofibromes of big size.
Gliome of the Optical nerve: it is a generally benign tumor located at the intracranial point of meeting of the optical nerves called Chiasma.
Certain difficulties of training: in general the children reached of NF-1 have a normal intelligence, but some encounter difficulties of training because they present problems of concentration and a hyperactivity.
arterial Hypertension: the risk of hypertension is increased a little at the people reached of NF-1.
Complications due to the presence of neurofibromes plexiform bulky interns who will compress vital bodies.
cancerous tumors, in particular: malignant tumors of the nervous sheaths

Treatment of the NF-1

There does not exist any treatment to cure this disease, one can to improve the daily newspaper of the patients:

to destroy the cutaneous neurofibromes either by electrocoagulation with the laser, or by the traditional surgery.
to operate the plexiform neurofibromes, if they become too awkward.
to operate too important deformations of the Spinal column

Others

For all the forms of NF, it is highly advised to be made follow the whole life médicalement. There exists in France a score of multi-field medical teams neurofibromatoses.

The hero of the film The Elephant Man of David Lynch, Joseph Merrick was regarded a long time as carrier of the neurofibromatose . Recent tests DNA would prove, as research suspected it for a long time, than it was carrying a very rare affection, the Syndrome of Protée with can be the NF1 moreover. In any way, the case exposed in film does not correspond to the reality lived by the patients.

Sources

J Mr. Friedman, Neurofibromatosis 1 in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006 == Références ==

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