Rothmund-Thomson syndrome in Child
The disease is autosomal recessive and is due to mutations in the RECQL4 helicase gene, which is involved in DNA repair. DNA helicase dysfunction results in an increased susceptibility to cancer, particularly osteosarcoma and skin cancer. Myelodysplasia and hematologic malignancy are rare. In the absence of malignancy, lifespan is generally normal.
Q82.8 – Other specified congenital malformations of skin
69093006 – Rothmund-Thomson syndrome
Differential Diagnosis & Pitfalls