Is dyskeratosis congenita inherited?
In the majority of cases dyskeratosis congenita is inherited. The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive.
What organelle is affected by dyskeratosis congenita?
Dyskeratosis congenita is a disorder of poor telomere maintenance mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed ribosomopathy. Specifically, the disease is related to one or more mutations which directly or indirectly affect the vertebrate telomerase RNA component (TERC).
How does dyskeratosis congenita affect ribosomes?
An important example is X-linked Dyskeratosis Congenita (X-DC), which is invariably associated with mutations in the DKC1 gene encoding for an enzyme that modifies ribosomal RNA (rRNA). X-DC is associated with specific pathological features, including bone marrow failure and increased cancer susceptibility.
What is dyskeratosis?
Dyskeratosis is abnormal keratinization occurring prematurely within individual cells or groups of cells below the stratum granulosum. Dyskeratosis congenita is congenital disease characterized by reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous membranes associated with short telomeres.
What is DKC?
A rare, inherited disorder that can affect many parts of the body, especially the nails, skin, and mouth. It is marked by abnormally shaped fingernails and toenails that may grow poorly; changes in skin color, especially on the neck and chest; and white patches inside the mouth.
What is dyskeratosis congenita?
Synopsis Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and associated with very high risks of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors.
What are the advances in the workup of dyskeratosis congenita?
49. de la Fuente J, Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant.
What is the treatment for aplastic anemia associated with dyskeratosis congenita?
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. Int J Hematol. 2006;83(3):275–276. [PubMed] [Google Scholar] 46.