Rothmund-Thomson Syndrome
What is Rothmund-Thomson syndrome (RTS)?
Rothmund-Thomson syndrome is a rare condition that
affects many parts of the body, particularly the skin.
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
- gastrointestinal
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.
Next: How common is Rothmund-Thomson syndrome? »
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