Dyskeratosis Congenita is a form of IBMFS–Inherited Bone Marrow Failure Syndrome. People who have IBMFS often have some form of aplasitc anemia, in which the bone marrow fails to produce blood. There are a number of these syndromes.
The most common IBMFS is probably Fanconi Anemia. http://www.fanconi.org/. Unlike DC, Fanconi occurs equally in males and females. But similarly it is a blood disorder that also increases the patient’s risk of cancers of the head, neck, and gynecological areas. Many patients do develop acute myelogenous leukemia and transplants are considered the only successful “cure” with patients still having to be vigilant for signs of cancer.
Diamond-Blackfan Anemia (DBA) differs from Dyskeratosis Congenita in that it only affects the red cell counts (anemia). Platelets (the cells in the blood which help it clot) and white blood cells (the blood cells needed to fight infection) are normal in affected patients. 90% of patients are usually diagnosed within the first year of life. 25% also have some physical mutations such as short stature and abnormal thumbs. For more information on this disease go to http://dbafoundation.org/
Patients with Severe Congenital Neutropenia (SCN) are usually diagnosed within the first year of life because they develop serious infections. They have abnormally low white blood counts which are needed to fight infections. The bone marrow of SCN patients fials to produce neutrophils or white blood cells. These patients are more likely to develop leukemia. Males and females are affected equally but physical exams are normal. For more information go to http://marrowfailure.cancer.gov/SCN.html.
Like Pearson and Severe Congenital Neutropenia, patients with Shwachman-Diamond Syndrome (SDS) have neutropenia (low white blood counts) and poor food absorption. Males and females are affected equallyand most are diagnosed in the first year of life. Physical findings include short stature and also problems with their bones. Although bone marrow failure usually begins with the white blood cells it can continue to the red cells (anemia) and the platelets(the cells which help clot the blood) and ultimately include all three resulting in aplastic anemia. For more informtion on this IBMFS please go to http://www.shwachman-diamond.org/
Patients with Thrombocytopenia Absent Radii (TAR) are almost always diagnosed at birth. They are missing the radius bone on both arms which runs from the elbow to the wrist on the side of the thumb. In addition they have thrombocytopenia which is a low platelet count (the cells in the blood which help it clot) and males and females are affected equally. In addtion to the missing radii they may have small shoulders and abnormal knees. Although patients have a low platelet count they do not go on to develop aplastic anemia (when all three of the types of blood celss are low because the bone marrow fails to produce them)For more information please go to http://marrowfailure.cancer.gov/TAR.html.
Patients with Amegakaryocytic Thrombocytopenia (Amega) have a low platelet count and begin brusing in their first year of life. Physical findings are normal except for bruising, bleeding and petechiae (tiny little spots of bleeding under the surface of the skin) The bone marrow failure generally begins wtih a low platelet count but patients can devleop aplastic anemia (when all three types of blood cells are abnormally low because the bone marrow fails to produce them) For more information on this syndrome please go to http://marrowfailure.cancer.gov/AMEGA.html.
Pearson Syndrome is extremely rare with fewer than 100 diagnosed cases reported. Patients affected with Pearson Syndrome present with neutropenia (low white blood counts) and can also also have low platelet counts. Sometimes patients may have aplastic anemia which is when all 3 of the blood cell types are very low because the bone marrow is failing to produce them. Usually Pearson Syndrome is diagnosed in infancy. Patients may develop liver or kidney disease and have poor food absorption. They also have short stature. For more information go to http://marrowfailure.cancer.gov/PEARSON.html.