General Symptoms

Symptoms of Dyskeratosis Congenita

Not everyone will have every symptom, problems associated with Dyskeratosis Congenita are listed here:


Mottled pigmentation or depigmentation (darker or lighter patches) of skin.

Dystrophic nails (ridged or thickened nails), loss of nails in severe cases.

Bone marrow/blood

Anaemia (low red cells), causing fatigue and paleness, or if severe, breathlessness.

Leucopenia (Low white blood cells). If severely low, infection is more common and more serious.

Thrombocytopenia (low platelets). If severe, causes bleeding (purpura/petechiae- red dots or small patches on the skin, or more severely internal bleeding into joints, brain or other organs).

For more information, please go to Treatments.