Conditions / Skin
autosomal dominant dyskeratosis congenita 1
info · Skin
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
Signs and symptoms
- Increased mean corpuscular volume
- Reticular hyperpigmentation
- Nail dystrophy
- Decreased total leukocyte count
- Thrombocytopenia
- Alopecia
- Ataxia
- Sparse hair
- Osteoporosis
- Anemia
Also known as: DKCA1; Dyskeratosis Congenita, Scoggins Type