Conditions / Skin
Rothmund-Thomson syndrome
info · Skin · ICD-10: Q82.8
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on c
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Signs and symptoms
- Epicanthus
- Delayed eruption of teeth
- Short stature
- Hypertelorism
- Microphthalmia
- Hypoplasia of teeth
- High palate
- Poikiloderma
- Prominent antihelix
- Narrow palpebral fissure
Also known as: Congenital poikiloderma; RTS