Conditions / Skin
X-linked dyskeratosis congenita
info · Skin
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
Signs and symptoms
- Nail dystrophy
- Oral leukoplakia
- Reticulated skin pigmentation
- Carcinoma
- Strabismus
- Short stature
- Squamous cell carcinoma
- Anal mucosal leukoplakia
- Horseshoe kidney
- Split nail
Also known as: DKCX; Zinsser-Cole-Engman syndrome