Dyskeratosis congenita
Dyskeratosis congenita Causes
The X-linked type of Dyskeratosis congenita (DKC) has been found to be brought about by the DKC1 mutations. Most of the time, dyskeratosis congenita's pattern of inheritance is X-linked recessive. HOwever, there have been reports that autosomal recessive and dominant patterns are likely causes as well.
Dyskeratosis congenita Definition
Dyskeratosis congenita is also referred to as Zinsser-Engman-Cole Syndrome. It is a type of rare disease that is characterized by a gradual failure of the bone marrow.
Dyskeratosis congenita Diagnosis
Diagnosis of the disease includes various tests to find out presence of bone marrow damage or failure, neurologic disorder, mucosal malignancies, and pulmonary problems. Tests done are based from the clinical results and may require other screening methods like chest radiography, CBC count, stool tests, and pulmonary function examinations.
Dyskeratosis congenita Symptoms and Signs
Symptoms of dyskeratosis congenita includes skin pigmentation, leukoplakia, and nail dystrophy. Apart from the failure in the bone marrow, patients can experience other clinical symptoms as well, some of which are: cutaneous findings, nail findings, mucosal findings, pulmonary complications, heightened malignancy risk, and neurologic, opthalmic, skeletal, genitourinary, and gastrointestinal system findings. The female carriers may exhibit less intensive clinical features.
Dyskeratosis congenita Treatment
Dyskeratosis congenita patients may undergo short-term medical treatments to address failure in bone marrow using anabolic steroids, and a lot others. The lone long-term treatment option is in the form of stem cell transplantation or SCT.