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What is Rothmund-Thomson Syndrome?

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Rothmund-Thomson syndrome is a rare condition in which the skin is particularly affected. So far, approximately 300 people with this disorder have been reported in scientific literature. Rothmund-Thomson syndrome, also referred  to as poikiloderma congenitale, is an autosomal recessive disorder.

90% of people with this syndrome develop skin rashes between 3-6 months of age. This may cause changes in skin colouring and early photosensitivity. Other key features of Rothmund-Thomson syndrome include:

  • skin tissue degeneration (atrophy )
  • juvenile cataracts
  • short stature
  • small widened blood vessels on the skin (telangiectases)
  • sparse hair, eyelashes and/or eyebrows
  • gastrointestinal problems in infancy

People with Rothmund-Thomson syndrome have a predisposition to cancer, particularly skin cancer and a form of bone cancer called osteosarcoma .

Genetics of Rothmund-Thomson syndrome

In most cases, RTS is attributed to mutations in the RECQL4 helicase gene on chromosome 8, specifically 8q24. The protein encoded by this gene is a DNA helicase that stabilizes genetic information in the body’s cells by regulating DNA replication.

Mutations in the RECQL4 gene may prevent the cells from producing a functional helicase. In some cases, not enough helicase is produced which may result in the disruption of DNA replication and repair, leading to genetic instability over time. Genetic instability may lead to chromosomal abberations, such as an extra or missing genetic material from chromosome 7 or 8.

In some individuals with Rothmund-Thomson syndrome, there does not seem to be a mutation in the RECQL4 gene. In these cases, the cause of the condition is unknown, but RECQL4 gene-related genes are the main suspects.

Learn more about the RECQL4 gene.

Conditions overlapping RTS

There are some disorders that have overlapping signs and symptoms with Rothmund-Thomson syndrome . These include Baller-Gerold syndrome and RAPADILINO syndrome. They are also autosomal recessive disorders and caused by mutations in the same gene.

Baller-Gerold syndrome

BGS is characterized by prematurely fused skull bones (cranioynostosis ), resulting in an abnormally shaped head with bulging forehead and eyes with shallow eye sockets (ocular proptosis). It is also characterized by radial ray malformations that include bone abnormalities in the hands and arms, such as reduction in the number of digits (oligodactyly) and malformed thumbs. Patients with BGS also exhibit slow growth and chronic skin problems (poikiloderma). This rare disorder has been found to affect less than 1 per million people.

Click to read more about Baller-Gerold syndrome.


RAPADILINO syndrome is also caused by germline mutations in the RECQL4 helicase gene. It is characterized by craniofacial anomalies such as long face, unusual ears, cleft palate, hearing defects, small chin, absent thumbs and radial ray defects. Other malformations include joint dislocations, small stature, stiff interphalangeal joints and infantile diarrhea. Patients with this syndrome have normal intelligence and are not at a significant risk to cancer.

The following is a link to an interesting case report of a patient who is overlapped with both RTS  and RAPADILINO syndrome: A patient with Rothmund-Thomson syndrome and all features of RAPALIDINO.



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  • Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G. A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol. 2005 May;141(5):617-20.
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