Rothmund-Thomson Syndrome

Updated: Jun 18, 2018
  • Author: Sylvia Hsu, MD; Chief Editor: Dirk M Elston, MD  more...
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Overview

Background

Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24. [1, 2, 3] Key features include early photosensitivity and poikilodermatous skin changes, juvenile cataracts, skeletal dysplasias, and a predisposition to osteosarcoma and skin cancer. [4, 5]

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Etiology

Rothmund-Thomson syndrome (poikiloderma congenitale) has been attributed to mutations of the RECQL4 gene on 8q24, which encodes a RecQ DNA helicase. [1, 2, 3, 6, 7] RecQ helicases are enzymes that function in DNA replication and repair and appear to be essential for the maintenance of genomic stability. [8, 9, 10, 11, 12, 13, 14, 15, 16] A strong correlation appears to exist between the presence of truncating, loss-of-function mutations of the RECQL4 gene, and the development of skeletal abnormalities and osteosarcoma.

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Epidemiology

Frequency

Approximately 300 cases of Rothmund-Thomson syndrome (poikiloderma congenitale) have been reported in the scientific literature worldwide.

Sex

Whether Rothmund-Thomson syndrome (poikiloderma congenitale) has a predilection for one sex over the other is unclear. An equal female-to-male ratio, a female predominance (1.4:1), and a male predominance (2:1) have all been reported in various case series.

Age

More than 90% of patients with Rothmund-Thomson syndrome (poikiloderma congenitale) develop the initial skin manifestations during the first year of life, usually from age 3-6 months. Rarely, the skin changes may be present at birth, or they may appear as late as age 2 years.

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Prognosis

In the absence of malignancy, patients usually have a normal life span.

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Patient Education

Patients and their families should be educated regarding the potential signs and symptoms of osteosarcoma such as bone pain, swelling, or an enlarging lesion on a limb.

The use of broad-spectrum photoprotection should be emphasized. Monitoring for nonhealing, ulcerated, or enlarging skin lesions suggestive of malignancy should also be encouraged.

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