THE RESEARCH                                                                                                      

                    

                The drafting of this heading, particularly delicate, was entrusted at doctors, members of our association or scientific Committee. Research is a very wide and world field. Our doctors all, voluntary, will make, soon, a synthesis of l’état current state of research on Ichtyoses. Being given their professional occupations and the difficulty of the task, we will leave them well readily time necessary.

                However, one of them prepared us this text, which has the merit to introduce some lights on the causes of the disease and the remedies current.

                The hereditary ichtyoses are cutaneous diseases which appear during the first days, the first months or the first years of the life and persist all the life. It is estimated that there are at least 20 varieties of ichtyose with a range of gravity and symptoms associated.

                 The ichtyose (or ichthyose - term resulting from the Greek: ikhtus = fish, referring to the aspect of the skin – dries, in scales) is the result of a genetic change transmitted of the relative to the child, or spontaneously produced.

                The ichtyose type harlequin or foetus harlequin, is the cutaneous demonstration most serious of all the congenital ichtyoses. It is transmitted according to a recessive autosomic mode – the transmission is done from one generation to another, but sometimes only one person in the family is reached. This can occur in the case of a   "spontaneous change ".

                 The ichtyose can be also a disfiguring disease and thus involving many social and psychological implications.

                 A genetic anomaly is present in all the types of the ichtyose, but the abnormal gene was this day discovered only in some of them (for example, ichtyose dependent A X, Ichtyose bulleuse... once known, the name of protein coded by abnormal gene could be defined and will bring, finally, a real hope for a suitable treatment.

                There exists for the moment no traitement of the ichtyose which would allow a "final guerison", just treatments allowing to help the control of symptomatology (i.e. the visible part of the disease).
                   The treatment of the ichtyose is thus not " disease-specific ", just symptomatic. In the era of the " modern therapy ", with the XXIe century, the treatment should try to correct the fundamental defect.
                 Unfortunately the first principle, i.e. the correction of the primary or fundamental genetic defect, remain for the moment unfulfilled, for the genic therapy is yet only in its early childhood. However, the speed with which science evolves/moves , and the associated techniques, makes it possible to expect results for little that financial means is placed at the disposal of the researchers.

                 In the future the genetic diagnosis will become increasingly important in the general diagnosis, the classification and the individual forecast of the patient reached.

                 The hereditary ichtyoses form part of the rare diseases - known as orphan diseases – and the financing of research is almost dependent on the private funds.