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.
Bassett Oneonta Specialty Services
. Dr. Bravin is rated as an Advanced provider by MediFind in the treatment of Dyskeratosis Congenita. Her top areas of expertise are Actinic Keratosis, Melanoma, Warts, and Psoriasis.
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, Hormone Replacement Therapy (HRT), and Bone Marrow Transplant.
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).
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
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-...
Published Date: March 01, 2014
Published By: National Institutes of Health