Type II congenital dyserythropoietic anemia in a patient with ectodermal dysplasia. Distinction from dyskeratosis congenita.

Purpose: We describe a patient who presented with severe anemia and ectodermal dysplasia.

Patients and methods: This is a case report of a patient whose anemia was evaluated at New York Hospital and then returned to Australia where further testing was performed.

Results: The history indicated that this was a chronic anemia. Bone marrow examination showed binucleated late normoblasts consistent with congenital dyserythropoietic anemia type II (CDA II) and not dyskeratosis congenita. Paroxysmal nocturnal hemoglobinuria was excluded despite the presence of a positive sucrose hemolysis test. Other types of acquired and congenital anemias were excluded by testing.

Conclusions: This is the first patient reported with coincident CDA II and ectodermal dysplasia.