Rothmund-Thomson syndrome, or poikiloderma congenitale, is an inherited disorder with photosensitivity as a prominent feature. Disease onset is generally between a few months to 2 years after birth and is characterized by poikiloderma, especially of the face and extremities, and sparse hair, with variable extracutaneous findings including cataracts, hypogonadism, short stature, mid-face hypoplasia, and other skeletal abnormalities. Juvenile subcapsular cataracts develop in more than half of affected children.
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.
ICD10CM: Q82.8 – Other specified congenital malformations of skin