A female with dyskeratosis congenita

A child with dyskeratosis congenita with <em>TINF2</em> mutation

“…DC is characterized by the bone marrow failure, mucocutaneous and somatic manifestations with a predisposition to malignancies 3 . The first case of DC in a Sri Lankan child was reported by Amerasena TSD, et al in 2005 4 .…”

“…Androgens are effective in the improvement of haemopoietic function in DC 3,5 . Granulocyte colony stimulating factor, alone or in combination with erythropoietin, is documented to have beneficial effect in some cases 4,5 . The only curative option for bone marrow failure is haemopoietic stem cell transplantation.…”