Dyskeratosis Congenita

Dyskeratosis Congenita is a heritable skin condition typified by a net-similar dark patchiness, irregular nail growth, oral lesions and progressive bone marrow failure.

Dyskeratosis congenital occurs due to the mutation of the gene DKC1 present in the X-chromosome (females), and in majority of the situations is hereditary as an X-linked recessive disorder. The male gender has a single X and Y chromosome while the female gender has two X-chromosomes. In case a male has inherited the DKC1 heritable flaw on his one X-chromosome then he would have dyskeratosis congenital. But, a female would require two flawed X-chromosomes for developing the disorder. Due to this legacy outline, the proportion of male to female that are affected by this disorder is nearly 10:1.


Approximately 180 people having dyskeratosis congenital have been cited globally in medical literature coming from varying countries and ethnicities.

Dyskeratosis Congenita Symptoms

  • The classic signs of dyskeratosis congenital affect the skin, nails and the mucous membranes along with bone marrow failure.
  • Dark tones patches on the skin that appear mottled or reticulate, generally on regions of the upper part of the trunk, neck and face.
  • Creases and cracks appearing on the nails, the finger nails tend to weaken, thin out and distort with analogous appearance noted on the toes.
  • White coloured patches or leukoplakia arise on the inner part of the cheeks, tongue and upper part of the throat that could turn malignant.
  • The bone marrow fails in producing adequate amounts of white blood cells required for boosting immunity, red blood cells – required to transportation of oxygen and iron through the body and platelets required for ensuring clotting.
  • Hair loss, cavities in the tooth and lung conditions.
  • The depleted immune systems could make them prone to grave infections or cancer developing.
  • Learning problems, mild to moderately ranging mental retardation or short sized stature could also be observed.

Diagnosis & Tests

Among those identified with dyskeratosis congenital, the skin and mucous membrane signs classically arose in the ages of five to fifteen years. Signs of bone marrow failure started in infancy as well. The distinctive symptoms would be the indicators to the presence of dyskeratosis congenital alongside those with a family history of this condition. Genetic testing could aid in detecting the DKC1 gene mutation.

Those with dyskeratosis congenital need to undergo testing for bone marrow failure and other grave complications like malignant lesions in the oral cavity and lung condition.

Dyskeratosis Congenita Treatment

  • The treatment for bone marrow failure that is a grave facet of dyskeratosis congenita is the use of Epogen or epoetin alfa – a medicine for stimulating red blood cell production and Neupogen or filgrastim – a medicine for stimulating white blood cell production.
  • The sole long-standing treatment is bone marrow transplant done from an individual in good health normally a kin member. But, in case a person having dyskeratosis congenital is having lung condition then bone marrow transplant could not be conducted in such a situation.



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