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Incontinentia Pigmenti France - maladie rare

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Physical findings Print E-mail
mardi, 05 décembre 2006
  1. 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.

  2.  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 ).

  3. 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.

  4. 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.

  5. 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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