Here are answers to questions posed by with ichthyosis patients or their families. Some of these issues were raised during the filling of the needs assessment questionnaire, some of them have received and filled.

If you have questions, you can send us the email at the following address: maladiesrarescutanees@chu-toulouse.fr This email address is protected against spam bots, you need Javascript enabled to view it

NB: These responses do not replace a medical consultation. They aim to encourage dialogue with your doctor. Feel free to ask him to specify the points that you do not seem sufficiently clear and to request additional information about your particular case.

Indeed, some information may not be appropriate for you: we must remember that every patient is different. Only the doctor know the patient can give individualized and tailored information.

QUESTIONS ANSWERS

•  A support request for podiatrist care was denied, how?

(M ^me D.)

There is no support provided by the health insurance for care pedicure. However, a case could be made to the MDPH (Departmental Home for Disabled Persons) . This file must be accompanied by documents attesting to the importance of care for the disease, the cost of meeting these sessions and their frequency. It is best, if possible, to get help for a social worker trained rare diseases as exists in centers of reference or jurisdiction. The list of these centers is available on the website of the ANIPS.

•  I would like a molecular diagnostics, how? (M ^me J.)

It is possible to make a molecular diagnosis in ichthyosis. This is unfortunately not a routine examination. It's a long review and does not always lead to the identification of the gene in question. In practice, it takes you closer to the nearest reference center or jurisdiction you (listed on the website of the ANIPS). Ideally, some examinations should be made in advance on the blood, hair or skin. These can help orient the molecular diagnosis and thereby facilitate the. Research should also be guided by the knowledge of the clinical features of ichthyosis.

• Are there has vision problems associated with ichthyosis? (M ^me D.)

Some forms of ichthyosis comprise eye anomalies, so KID syndrome which comprises keratitis. Other forms may include ocular abnormalities which result ectropion (eyelids are pulled outward because of the stiffness of the skin), hindering the closure of the eye. This therefore leads to an eye redness, pain, dryness, tearing, keratitis, conjunctivitis and sometimes blurred vision.

• I s ouhaiterais find the name of a drug that was prescribed in 1990 and had got rid of my dander. This drug ends in "-on".  (M ^r C.)

This is probably the eg: Tegison R (Etretinate). This drug is not on the market but its equivalent is the Soriatane® (acitretin). You will find the site an information note on the Soriatane®.

• I would like to know if my daughter severe psoriasis is linked to my ichthyosis (M ^r C.)

There is no known link between psoriasis and ichthyosis, although the appearance of the skin may look like, especially in severe forms of psoriasis that include redness and scaling on the whole body.

• Are there a link between ichthyosis and joint and muscle pain (M ^me B.)

There may be in severe ichthyosis a skin stiffness which causes pain during joint movement, but no joint or muscle pain origin.

Such pains are described in against certain rare forms of ichthyosis that not correspond to an isolated anomaly of the skin but a syndrome with other attacks.

It is also noteworthy that this type of pain can be caused by the Soriatane® (Acitretine).

• What to think about alternative therapies? phytotherapy? Plant? (M ^me C.)

No medicine to date, what is classical or not, a cure for ichthyosis. The treatments aim to improve skin and reduce the signs. Available treatments in conventional medicine have been the subject of extensive scientific studies that have enabled them to market, have shown their efficacy, mode of action and their possible adverse effects. Conversely, there has been no study on products used in alternative medicine. The effectiveness is not proven, there is no known toxicity and tolerance. Plants can be dangerous and our dermatologist practice, many allergic reactions are observed, some violent, sustainable plants. In addition, it is sometimes expensive products and unsupported. Overall, we do not recommend, therefore, that all the skin is more permeable in ichthyosis and certain forms more prone to allergy. We recommend using unscented products and preservatives.

• How many baths or showers should be taken per day? (M ^me P.)

There are no recommendations concerning the number of baths taken daily. Reasonably can advise 1-2 baths / day. These should not be too long (no more than 15 minutes) and not too hot or it will aggravate scratching. The products used must be without soap does not irritate the skin further.

• There's there a link between ichthyosis and eczema?

Yes, there is a link between eczema and ichthyosis for some forms of ichthyosis.

In ichthyosis vulgaris, because the is the same as that of atopic eczema: This is indeed mutations of the filaggrin gene important for the formation of the skin.

There are also in Netherton syndrome outbreaks of lesions similar to those that can be seen in atopic eczema.

• Why do we sweat so little with ichthyosis?

The glands responsible sweating are present but the sweat is difficult to evacuate dander causes that are like corks.

• Can Ichthyosis explain fever?

Yes, because of problems of perspiration which explains a difficulty to dissipate heat.

• What ENT care to realize tracking when one is suffering from ichthyosis?

Ichthyosis is responsible for auditory canals clogged with dander. Must be regularly (frequency based on the importance of dander) consult an ENT for a draw dander as this is responsible for a loss of hearing. There may also be external ear infections that require a local treatment disinfectant or antibiotic.

• Is a strong hair is linked to ichthyosis?

There is no known link between the two.

• What is the natural course of the disease?

Most often there is no improvement over time but a succession of advanced phases and improvement. Rare ichthyosis improve: in the case of those due to mutations lipoxygenase.

• Why are there any breakouts?

We do not know very well. In general patients and their families do not identify the triggers. One hypothesis is that in ichthyosis the body fails to respond to changes, such as the environment. Stress is scratch the skin but it does not give real breakouts.

• Can we have sunscreen reimbursed?

Sunscreens are not refundable except in so far a genetic disease called xeroderma pigmentosum. The refund does not seem justified in ichthyosis because even if patients with skin redness should protect themselves from the sun, it is better to put in the shade, out non hottest hours, wear clothes, and instead to cream often pique or dries.

• What to do for fever due to exposure to heat?

This disease is due to the absence of regulation by perspiration can not be evacuated. Best to take a shower or a bath with fresh water. A doliprane can be effective. Prevention must avoid exposure to heat, misters can help.

Pr Juliette MAZEREEUW - HAUTIER 

  Diseases Reference Center for Rare skin Toulouse-Bordeaux