Dyskeratosis congenita is a rare inherited bone marrow failure characterized by 
excessively short telomeres in highly proliferative tissues. These abnormalities 
are due to disturbance of the telomere maintenance machinery. The clinical 
presentation is characterized by skin pigmentation, nail dystrophy, and mucosal 
leukoplakia. All these mucocutaneous features are rare in childhood: they 
usually appear between 5 and 10 years of age. In young children, the initial 
presentation can associate bone marrow failure and neurological or ocular 
problems: Hoyeraal-Hreidarsson and Revesz syndromes, respectively. Clinical 
progression of the disease can lead to aplastic anemia (86% of all patients) and 
to pulmonary or hepatic complications. These patients also have an increased 
risk of cancer. Diagnosis is often suspected on bone marrow failure with no 
clinical or biological abnormalities compatible with Fanconi anemia diagnosis. 
The telomere length study can be helpful for diagnosis in case of aplastic 
anemia in children before studying gene mutations. Until now, 6 genes (DKC1, 
TERT, TERC, NOLA2, NOLA3, TINF2) have been identified in dyskeratosis congenita. 
Transmission of the disease can be autosomal recessive, autosomal dominant, or 
X-linked. In half of the cases, the genetic abnormality is unknown. Treatment of 
DC has to be adapted to each patient, from symptomatic or androgenic treatment 
to hematopoietic stem cell transplantation.