Complete Information on Dyskeratosis congenita with Treatment and Prevention

Dyskeratosis congenita (DKC) is an uncommon, liberal ivory marrow bankruptcy syndrome. Dyskeratosis congenita is caused by a mutated gene, DKC1, located on the X (female) chromosome, and in most cases is inherited as an X-linked recessive disorder. People afflicted with this are also highly susceptible to developing cancer. Males have one X and one Y chromosome and females have two X chromosomes. If a male inherits the dyskeratosis congenita1genetic defect on his single X chromosome, he will have dyskeratosis congenita. However, a female would need to inherit two defective X chromosomes in order to have the disorder. Symptoms of bone marrow failure began in childhood as well. The typical symptoms will point to the diagnosis of dyskeratosis congenita, as well as having a family history of the disorder.

Dyskeratosis congenita is characterized by the triad of reticulated rind hyperpigmentation, nail dystrophy, and oral leukoplakia. Early mortality is frequently associated with ivory marrow bankruptcy, infections, deadly pulmonary complications, or malignancy. Individuals with dyskeratosis congenita may have other symptoms such as hair loss, tooth cavities, and problems with their lungs. About half of dyskeratosis congenita patients develop bone marrow failure. Onset may be in early childhood, but diagnoses are often made later, because the findings on physical examination become more obvious with age. Having a weakened immune system may lead to serious infections or the development of cancer. Learning difficulties, mild-to-moderate mental retardation, or short stature may be present. Patients usually present during the first decade of life, with the skin hyperpigmentation and nail changes typically appearing first.

The person with dyskeratosis congenita should be tested for ivory marrow bankruptcy and new severe complications such as malignant lesions in the lip and lung disease. Mutational analysis may be helpful in confirming the diagnosis. The most serious aspect of dyskeratosis congenita, bone marrow failure, is treated with epoetin alfa, a medication that stimulates the production of red blood cells, and filgrastim, a medication that stimulates the production of white blood cells. Patients and family members without a known mutation can be screened with a new test, leukocyte subset flow fluorescence in situ hybridization, which can identify very short telomeres in both clinically apparent and silent disease. Drugs that cause pulmonary toxicity (eg, busulfan) and exposure to unnecessary radiation should be avoided in these patients.

Juliet Cohen writes articles for health care blog. She also writes articles for hairstyles gallery.