Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (pronounced ROTH-mund TOM-son sin-drome) is a rare genetic disorder characterized by a variety of symptoms and physical abnormalities.
Etymology
The syndrome is named after the German ophthalmologist August Rothmund and the British dermatologist Sydney Thomson, who independently described the condition in the late 19th and early 20th centuries, respectively.
Definition
Rothmund-Thomson syndrome is a rare genetic disorder that affects many parts of the body, particularly the skin. It is characterized by a rash that develops in infancy, followed by patchy changes in skin coloring, sparse hair, eyelashes, and eyebrows, and slow growth. Other features may include skeletal abnormalities, cataracts, and an increased risk of cancer, particularly osteosarcoma and skin cancer.
Symptoms
The symptoms of Rothmund-Thomson syndrome can vary greatly from person to person. However, some common symptoms include:
- Rash: A redness on the cheeks that spreads to the arms and legs, usually appearing in infancy.
- Skeletal abnormalities: These can include absent or malformed bones, short stature, and other abnormalities.
- Cataracts: Clouding of the lens of the eye, which can lead to vision problems.
- Cancer: An increased risk of certain types of cancer, particularly osteosarcoma and skin cancer.
Causes
Rothmund-Thomson syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in maintaining the stability of a cell's genetic information. Mutations in the RECQL4 gene disrupt the normal function of this protein, leading to the various symptoms of Rothmund-Thomson syndrome.
Treatment
There is currently no cure for Rothmund-Thomson syndrome. Treatment is symptomatic and supportive, and may include measures to manage skin abnormalities, physical therapy for skeletal abnormalities, regular eye exams to monitor for cataracts, and regular screenings for cancer.
See also
External links
- Medical encyclopedia article on Rothmund-Thomson syndrome
- Wikipedia's article - Rothmund-Thomson syndrome
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