Better known as the Rothmund-Thomson syndrome, this is an hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and bone.
The outlook (prognosis) for survival is generally fairly good.
Rothmund-Thomson syndrome (RTS) is inherited as an autosomal recessive trait. A child born to parents each of whom has the RTS gene stands a 25% chance of receiving both RTS genes and the disease. The RTS gene has been mapped (charted) and is on chromosome 8.
An alternative title for RTS is poikiloderma atrophicans with cataract.
- Point mutation
A single nucleotide base change in DNA. For example, a point mutation is the cause of sickle cell disease.
- Point, McBurney's
McBurney’s point is the most tender area of the abdomen of patients in the early stage of appendicitis. McBurney’s point is named after the 19th-century New York surgeon Charles McBurney (1845-1913) who was the leading authority in his day on the diagnosis and treatment of appendicitis. Dr. McBurney in 1889 showed that incipient appendicitis could […]
Any substance that can cause severe organ damage or death if ingested, breathed in, or absorbed through the skin. Many substances that normally cause no problems, including water and most vitamins, can be poisonous if taken in excessive quantity. Poison treatment depends on the ‘substance.
- Poison Control Center
A special information center set up to inform people about how to respond to potential poisoning. These centers maintain databases of poisons and appropriate emergency treatment. Local poison control centers should be listed with other community-service numbers in the front of the telephone book, and they can also be reached immediately through any telephone operator.
- Poison ivy
Skin inflammation that results from contact with the poison ivy vine. Chemicals produced by this vine cause an immune reaction, producing redness, itching, and blistering of the skin. Treatment involves use of topical medications.