- What is Rothmund-Thomson syndrome (RTS)?
- What are the signs and symptoms of Rothmund-Thomson syndrome?
- How common is Rothmund-Thomson syndrome?
- What genes are related to Rothmund-Thomson syndrome?
- How do people inherit Rothmund-Thomson syndrome?
- What other names do people use for Rothmund-Thomson syndrome?
- Where can I find information about treatment for Rothmund-Thomson syndrome?
What is Rothmund-Thomson syndrome (RTS)?
What are the signs and symptoms of Rothmund-Thomson syndrome?
People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of skin tissue degeneration (atrophy), and small clusters of enlarged blood vessels just under the skin (telangiectases). These skin problems persist for life, and are collectively known as poikiloderma.
Rothmund-Thomson syndrome is also characterized by:
- sparse hair, eyebrows, and eyelashes;
- slow growth and small stature;
- abnormalities of the teeth and nails; and
problems in infancy, such as chronic
diarrhea and vomiting.
- Some affected children develop a clouding of the
lens of the eye (cataract), which affects vision.
- Many people with this disorder have
skeletal abnormalities including absent or malformed bones, delayed bone formation, and low
bone density (osteopenia). Some of
these abnormalities affect the development of bones in the forearms and the
thumbs, and are known as radial ray malformations.
- People with Rothmund-Thomson syndrome have an increased
risk of developing cancer, particularly a form of
bone cancer called
osteosarcoma. These bone tumors most often develop during childhood or adolescence.
- Several types of skin cancer are also more common in people with this disorder.
The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.
How common is Rothmund-Thomson syndrome?
Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.
What genes are related to Rothmund-Thomson syndrome?
Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making a protein whose function is not well understood, although researchers believe that it helps stabilize genetic information in the body's cells. This protein probably also plays a role in copying (replicating) and repairing DNA.
RECQL4 mutations lead to the production of an abnormally short, nonfunctional version of the RECQL4 protein or prevent cells from making any of this protein. A shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the specific features of Rothmund-Thomson syndrome.
In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been found. The cause of the condition in these individuals is unknown; however, researchers suspect that these cases may result from mutations in a gene related to RECQL4.
In some cases, chromosomal abnormalities have been identified in people with Rothmund-Thomson syndrome. These abnormalities include extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers believe that these chromosomal changes are related to the overall instability of an affected person's genetic information.
How do people inherit Rothmund-Thomson syndrome?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What other names do people use for Rothmund-Thomson syndrome?
- Congenital poikiloderma
- Poikiloderma atrophicans and cataract
- Poikiloderma Congenitale
- Poikiloderma congenitale of Rothmund-Thomson