Rothmund Thomson syndrome
Rothmund Thomson syndrome (pronounced: Roth-mund Thom-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, also known as Poikiloderma atrophicans with cataract, is a rare autosomal recessive disorder primarily characterized by cutaneous, ocular, and skeletal abnormalities. It is associated with an increased risk of developing certain types of cancer, particularly osteosarcoma and skin cancer.
Symptoms
The symptoms of Rothmund Thomson syndrome can vary greatly from person to person. However, common symptoms include:
- Poikiloderma: A condition that causes changes in skin coloring, atrophy, and telangiectasias.
- Cataracts: Clouding of the lens in the eye that affects vision.
- Skeletal abnormalities: Including short stature and malformed bones.
- Premature aging: Many individuals with Rothmund Thomson syndrome have a characteristic aged appearance.
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 and integrity of DNA.
Diagnosis
Diagnosis of Rothmund Thomson syndrome is based on clinical examination, genetic testing, and the presence of characteristic symptoms.
Treatment
There is currently no cure for Rothmund Thomson syndrome. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, physical therapy for skeletal abnormalities, and surgery or other treatments for cataracts.
See also
External links
- Medical encyclopedia article on Rothmund Thomson syndrome
- Wikipedia's article - Rothmund Thomson syndrome
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