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- 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)?
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
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
Where can I find information about treatment for Rothmund-Thomson syndrome?
Gene reviews: Treatment for Rothmund-Thomson Syndrome
SOURCE: Genetics Home Reference, National Institutes of Health
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Birth DefectsBirth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
DiarrheaDiarrhea is a change is the frequency and looseness of bowel movements. Symptoms associated with diarrhea are cramping, abdominal pain, and the sensation of rectal urgency. Causes of diarrhea include viral, bacterial, or parasite infection, gastroenteritis, food poisoning, and drugs. Absorbents and anti-motility medications are used to treat diarrhea.
Genetic CounselingYour health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
MicrocephalyMicrocephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, abuse of alcohol or drugs, infection (for example, Zika virus, German measles, or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is no treatment for microcephaly.
Nausea and Vomiting
Nausea is an uneasiness of the stomach that often precedes vomiting. Nausea and vomiting are not diseases, but they are symptoms of many conditions. There are numerous cases of nausea and vomiting. Some causes may not require medical treatment, for example, motion sickness, and other causes may require medical treatment by a doctor, for example, heart attack, lung infections, bronchitis, and pneumonia.
Some causes of nausea and vomiting may be life threatening, for example, heart attack, abdominal obstruction, and cancers.
Treatment of nausea and vomiting depends upon the cause.
Pregnancy Planning (Preparing for Pregnancy)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes taking prenatal vitamins, eating healthy for you and your baby, disease prevention (for both parents and baby) to prevent birth defects and infections, avoiding certain medications that may be harmful to your baby, how much weight gain is healthy exercise safety and pregnancy, travel during pregnancy.
RashThe word "rash" means an outbreak of red bumps on the body. The way people use this term, "a rash" can refer to many different skin conditions. The most common of these are scaly patches of skin and red, itchy bumps or patches all over the place.
Rothmund-Thomson Syndrome PictureErythema and poikloderma on the cheek of a child. See a picture of Rothmund-Thomson Syndrome and learn more about the health topic.
Skin Cancer OverviewSkin cancers occur when skin cells undergo malignant transformations and grow into tumors. The most common types of skin cancer, basal cell carcinoma and squamous cell carcinoma, are highly curable when they are diagnosed and treated early. Sun exposure, tanning beds, depressed immune system, radiation exposure, and certain viral infections are risk factors for skin cancer. Skin cancers are treated with surgery or radiation. The prognosis of nonmelanoma skin cancers is generally very good.