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Rothmund-Thomson syndrome in Adult
Other Resources UpToDate PubMed

Rothmund-Thomson syndrome in Adult

Contributors: Sruthi Renati MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
69093006 – Rothmund-Thomson syndrome

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Last Reviewed:06/10/2018
Last Updated:01/23/2022
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Rothmund-Thomson syndrome in Adult
A medical illustration showing key findings of Rothmund-Thomson syndrome : Photosensitivity, Reticular - netlike, Saddle nose deformity, Short stature, Telangiectasia
Clinical image of Rothmund-Thomson syndrome - imageId=838571. Click to open in gallery.  caption: 'Erythematous and violaceous reticulate plaques on the dorsal hand and fainter similar patches on the forearm.'
Erythematous and violaceous reticulate plaques on the dorsal hand and fainter similar patches on the forearm.
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