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Genetic and Rare Diseases Information Center (GARD)

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Rothmund Thomson syndrome

Other Names for this Disease
  • Poikiloderma atrophicans and cataract
  • Poikiloderma Congenitale
  • Poikiloderma of Rothmund-Thomson
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Your Question

Is there a role for growth hormone therapy to correct stature? Is there an increased risk of getting malignant disorders?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Can growth hormone therapy be used to treat short stature associated with Rothmund Thomson syndrome?

Growth hormone (GH) therapy is not recommended for affected individuals who have normal GH levels because of the theoretical potential for tumor development. For individuals with documented GH deficiency, routine treatment with GH is appropriate.[1] Several reports have stated that there is little increase in growth velocity for affected individuals with GH deficiency on GH replacement therapy. However, there is a report of one non-GH deficient individual who showed a good response to treatment.[2]
Last updated: 1/25/2012

Do individuals with Rothmund Thomson syndrome have an increased risk to develop cancer?

Individuals with Rothmund Thomson syndrome do have an increased risk of developing cancer, although the overall prevalence of cancers in affected individuals is unknown.[1] The most common type of cancer in affected individuals is osteosarcoma, a type of bone cancer. Osteosarcomas have been reported to develop in as many as 32% of affected individuals. They most frequently occur in the tibia (shin bone) or fibula (calf bone).[3] The average age at diagnosis is approximately 11 years, which is slightly younger than in the general population.[1]

Children with Rothmund Thomson syndrome are also at an increased risk of developing skin cancer, including basal cell carcinoma, squamous cell carcinoma, and melanoma.[1]

Two individuals with Rothmund Thomson syndrome have been reported to have a second malignancy; one developed non-Hodgkin's lymphoma several years after chemotherapy for osteosarcoma, and the other developed Hodgkin's lymphoma several years after therapy for osteosarcoma.[1] Because Rothmund Thomson syndrome is likely a chromosome instability syndrome, individuals who are treated for cancer theoretically may be more sensitive to the effects of chemotherapy and have a higher risk for second malignancy.[1]
Last updated: 1/25/2012