Rothmund thomson syndrome

Rothmund-Thomson syndrome (RTS), also known as Poikiloderma atrophicans with cataract or Rothmund's syndrome, is a rare genetic disorder characterized by a variety of medical and physical abnormalities. The syndrome was first described by the German ophthalmologist August Rothmund in 1868 and later by the British dermatologist Sydney Thomson in 1936.

Symptoms and Signs

The symptoms of Rothmund-Thomson syndrome vary greatly among affected individuals. However, the most common features include poikiloderma, a condition that causes changes in skin coloring, texture, and thinning; cataracts or clouding of the eye lens; skeletal abnormalities; short stature; and an increased risk of developing 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 and helps to repair damaged DNA. Mutations in the RECQL4 gene disrupt these functions, leading to the various features of Rothmund-Thomson syndrome.

Diagnosis

Diagnosis of Rothmund-Thomson syndrome is based on clinical examination and confirmed by genetic testing to identify mutations in the RECQL4 gene. Other diagnostic tests may include skin biopsy, eye examination, and imaging studies to detect skeletal abnormalities.

Treatment

There is currently no cure for Rothmund-Thomson syndrome. Treatment is symptomatic and supportive, and may include surgery to remove cataracts, physical therapy for skeletal abnormalities, and regular monitoring for the development of cancer.

Prognosis

The prognosis for individuals with Rothmund-Thomson syndrome varies depending on the severity of symptoms and the presence of cancer. With appropriate management and surveillance, many individuals with this syndrome can live into adulthood.

See Also

• Genetic disorder
• Poikiloderma
• Cataract
• Osteosarcoma

NIH genetic and rare disease info

• NIH info on Rothmund thomson syndrome

Rothmund thomson syndrome is a rare disease.

Rothmund thomson syndrome Resources
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