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:
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.
The 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.
Diarrhea is a change is the frequency and looseness of bowel movements. Cramping, abdominal pain, and the sensation of rectal urgency are all symptoms of diarrhea. Absorbents and anti-motility medications are used to treat diarrhea.
In the U.S., more than 2,000 people are diagnosed with bone cancer every year. There are many types of bone cancer. The most common forms of bone cancer are osteosarcoma, Ewing's sarcoma, chondrosarcoma, malignant fibrous histiocytoma, fibrosarcoma, and chordoma. Pain is the most common symptom. Treatment usually involves surgery, chemotherapy, and radiation therapy.
Skin cancer is the most common form of cancer
in humans. There are three main types of skin cancer; basal cell carcinoma and
squamous cell carcinoma (the nonmelanoma skin cancers), and melanoma.
Nausea is an uneasiness of the stomach that often precedes vomiting. Nausea and vomiting are not diseases, but they are symptoms of many conditions. The causes of vomiting differ according to age, and treatment depends upon the cause of nausea and vomiting.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth 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.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, or from abuse of alcohol, drugs, infection (for example, 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 not treatment for microcephaly.
Your 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.
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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