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Rothmund-Thomson syndrome in Infant/Neonate
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Rothmund-Thomson syndrome in Infant/Neonate

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Contributors: Sruthi Renati MD, Susan Burgin MD
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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.

For more information, see OMIM.

Codes

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

SNOMEDCT:
69093006 – Rothmund-Thomson syndrome

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Last Reviewed: 06/11/2018
Last Updated: 07/06/2018
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Rothmund-Thomson syndrome in Infant/Neonate
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Rothmund-Thomson syndrome : Photosensitivity, Reticular - netlike, Saddle nose deformity, Short stature, Telangiectasia
Clinical image of Rothmund-Thomson syndrome
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