Dyskeratosis Congenita Overview
Learn About Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. In a small number of individuals with dyskeratosis congenita, mutations in other genes involved with telomere maintenance have been identified. Other affected individuals have no mutations in any of the genes currently associated with dyskeratosis congenita. In these cases, the cause of the disorder is unknown, but other unidentified genes related to telomere maintenance are likely involved.
The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people.
Dyskeratosis congenita can have different inheritance patterns.
Sharon Savage is a Pediatric Hematologist Oncology provider in Bethesda, Maryland. Dr. Savage is rated as an Elite provider by MediFind in the treatment of Dyskeratosis Congenita. Her top areas of expertise are Dyskeratosis Congenita, Aplastic Anemia, Aase Syndrome, Bone Marrow Transplant, and Hormone Replacement Therapy (HRT).
Blanche Alter is a Pediatric Hematologist Oncology provider in Rockville, Maryland. Dr. Alter is rated as an Elite provider by MediFind in the treatment of Dyskeratosis Congenita. Her top areas of expertise are Aase Syndrome, Dyskeratosis Congenita, Aplastic Anemia, Bone Marrow Transplant, and Hormone Replacement Therapy (HRT).
Fabian Beier practices in Aachen, Germany. Mr. Beier is rated as an Elite expert by MediFind in the treatment of Dyskeratosis Congenita. His top areas of expertise are Dyskeratosis Congenita, Aplastic Anemia, Acquired Amegakaryocytic Thrombocytopenia, Anemia, and Bone Marrow Transplant.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Summary: The goal of this clinical trial is to learn if a combination therapy of deoxycytidine (dC) plus deoxythymidine (dT) is safe in patients with telomere biology disorders. The main questions it aims to answer are: * Is the therapy safe with tolerable side effects in patients with telomere biology disorders? * Are problems with the bone marrow or blood or lungs changed after 6 months of dC+dT treatmen...
Published Date: March 01, 2014
Published By: National Institutes of Health