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mardi, 05 décembre 2006 |
- Skin lesions always appear :
At first, one can observe blisters (filled with water), sometimes pustules (filled with a whitish liquid), that are not caused by any infection and most often appear on the hands, arms, feet and legs of the new-born baby.
They can be observed right after birth or may appear during the first two weeks and parents’ attention should be called for by their unexpected coming out on the body of a baby – usually a girl -- who is otherwise in a good general condition, that is free from any infection.
These lesions disappear spontaneously, but several successive outbreaks can occur over the first year or so.
A dermatologist should be consulted to determine the appropriate treatment.
After some time the blisters turn into warty lesions that will disappear as well.
- Tooth disorders can be observed in 80% of cases :
The main disorder is pointed, cone-shaped teeth but some teeth can be altogether missing or supernumerary.
The second teething should be watched closely as specific dentistry may be required ( orthodontics or dental prosthesis ). - Hair disorders can be observed in 50% of cases :
In most cases there are some hairless patches of skin on the top the head. The hair may be thin even during childhood. It seldom turns out to be a major problem. - Eye disorders can be observed in 10% of cases :
Eyesight is normal in 90% of cases. However babies with IP should be examined by an ophthalmologist shortly after birth so as to detect any vascular proliferation in the retina and be watched regularly until the age of five.
In a few cases severe eye disorders can be observed: detachment of the retina, cataract, small eyes, atrophy of the optical nerve. - Neurological disorders can be observed in 10 to 30% of cases :
They are caused by cerebral vascular accidents and their aftereffects: convulsions, epilepsy, mental retardation, psycho-motor deficiencies. The most serious cases require very heavy medical care.
Convulsions appear at a very early age, often before the child is six-months-old.
No new deficiencies appear after the age of one.
Fortunately the most severe neurological disorders are also the least frequent and can usually be observed during the first months of the child’s life.
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lundi, 04 décembre 2006 |
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The skin rash always appears, although sometimes discreetly, which makes the diagnosis more difficult. However, the absence of other clinical symptoms should not eliminate the possibility of IP.
The blisters must not be mistaken with those occurring in cases of herpes, eczema and chickenpox.
A skin biopsy may reveal characteristic anomalies.
Biological tests are used to reveal the presence of the abnormal gene. They can confirm the diagnosis and they greatly help avoid the transmission of the decease .
The other symptoms - tooth disorders, alopecia (patches of hairless skin), or a proliferation of blood vessels on the retina- make the diagnosis possible when adults are concerned, whether they are mothers and have born a child with IP, or have a mother or sister with IP, or whether they have had several miscarriages with male foetus.
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dimanche, 03 décembre 2006 |
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Some deceases, including IP, are due to genes placed on the X chromosome and are therefore called ‘X linked deceases’.
Women have two X chromosomes whereas men only have one (they have a Y chromosome which makes them male) A woman with IP has one normal X chromosome whereas the other one bears the mutated gene.
When pregnant, she transmits half her genes to the foetus. That’s why each time she is pregnant her chances of transmitting the X chromosome with the mutated gene are 50% whatever the sex of the foetus. Statistically half her daughters will inherit a normal X chromosome and will therefore be free from IP and the other half will inherit the X chromosome with the mutated gene and will suffer from IP like their mother. Half her sons will inherit a normal X chromosome and therefore be normal and the other half will inherit the X chromosome with the mutated gene. Since a foetus needs at least one normal X chromosome to survive and boys have but one X chromosome, the foetus with the mutated gene will be miscarried or stillborn.
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samedi, 02 décembre 2006 |
Disinfectant and sometimes anti-inflammatory treatment are used locally on the skin lesions mainly to prevent secondary infection.
The teeth will be watched and treated mainly after the second teething.
The proliferation of blood vessels on the eye retina will be treated using a laser.
Epilepsy and other neurological disorders are not specific to IP and are treated as usual.
However a work group is being set up in order to study specific forms of epilepsy in children with IP as it seems the inflammatory process is somewhat different from the one observed in other cases of epilepsy.
Concerning the gene itself a therapy might consist in grafting the lost – 4…10 -- segment as early as possible on the abnormal gene but this therapy won’t be available yet in the near future.
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vendredi, 01 décembre 2006 |
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The ‘NEMO’ gene (NF-kappaB essential modulator) stimulates through a protein NF KappaB which is a major transcription factor ruling inflammatory, immune and apoptic ( mechanism of cell death) processes.
It explains the inflammatory characteristics of IP first skin lesions and the skin recovery when all the cells with the mutated gene have been destroyed.
Let’s try to make it simple: The NEMO gene runs the elaboration of numerous proteins through the medium of a manager (NF KB) who sends specific messages to thousands of factories in order to produce those proteins that fight inflammation, infection and so on.
For more information see the description of IP in the part ‘Research’
The gene looks like a small train with its various carriages and compartments (1-2,3,4,5…….10…etc)
The most frequent abnormality (85%) is the loss of compartments 4 to 10. It can be found in the cases of hereditary IP.
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lundi, 31 octobre 2005 |
In 2000 the NEMO gene was identified by a team at Necker Hospital in Paris, which led to significant advance in the field of sciences.
A prenatal diagnosis test was elaborated in 2004 by the same team.
Prenatal diagnosis are made at Necker Hospital at the laboratory of genetics biochemistry. Some cells are taken by biopsy on the inner (foetal) part of the placenta under scan.
For time being this test is only made when a mother with IP wishes to bear another child.
A number of members of IP France have met the team at Necker Hospital before conceiving a child.
A diagnosis was devised in 2006, making it possible to detect the decease in the embryo, in vitro, before it is implanted in the uterus.
The same laboratory conducts the other diagnosis tests, specially the family genetics tests. However, the diagnosis on young girls under age is only made when there are obvious clinical symptoms of the decease. |
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Common description
Gazette 17 (89)
Gazette 16 (219)