Dyskeratosis congenita remains a too little known disease, difficult to diagnose and often fatal. To improve support of families and patient care, the following endeavours must be continued and developed :
Supporting research, to allow the identification of new genes (at present, the majority of patients affected by autosomal forms of DC or HH do not display mutations in known genes) and further our understanding of the factors that can alter the symptoms of patients carrying the same mutation.
C. Hoareau-Aveilla & Y. Henry : Laboratoire de Biologie Moléculaire Eucaryote du CNRS, Université de Toulouse, UPS, 118 route de Narbonne, 31062 Toulouse cedex 09, France, Novembre 2007.
T. Leblanc : Service de Pédiatrie à orientation hématologique et Centre de Référence des aplasies médullaires constitutionnelles rares. Hôpital Saint-Louis, 1 avenue Claude Vellefaux, 75475 Paris Cedex 10, France, Novembre 2007.