ABSTRACT
Congenital Dyskeratosis [CD] is a severe inherited disease characterised by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. Other clinical manifestations including lung fibrosis and liver cirrhosis worsen the prognosis. Bone marrow hypoplasia is frequently reported, 50 per cent of patients develop pancytopenia before the age of 10 years. We report here the first Tunisian case of DC diagnosed in paediatric age and revealed by a severe bone marrow failure by the age of ten years. The classic triad appeared in the first decade, epiphora, blepharitis, teeth abnormalities and a single kidney were also noted. Androgen therapy stabilised peripheral cytopenia and, decreased the need of red blood cell transfusion