Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder characterized by a variety of clinical features, including poikiloderma, sparse hair, cataracts, and an increased risk of developing osteosarcoma. The syndrome is named after the German ophthalmologist August von Rothmund and the British dermatologist Matthew Sydney Thomson, who first described the condition in the 19th and 20th centuries, respectively.

Clinical Features

RTS typically presents in infancy or early childhood with the development of poikiloderma, which is a skin condition characterized by areas of hyperpigmentation, hypopigmentation, telangiectasia, and atrophy. Other common features include:

• Sparse scalp hair, eyebrows, and eyelashes
• Small stature and skeletal abnormalities
• Juvenile cataracts
• Dental anomalies
• Gastrointestinal issues
• Increased risk of osteosarcoma and other cancers

Genetics

RTS is primarily caused by mutations in the RECQL4 gene, which plays a crucial role in DNA repair. The syndrome follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Diagnosis

The diagnosis of RTS is based on clinical findings and can be confirmed through genetic testing to identify mutations in the RECQL4 gene. Differential diagnosis includes other conditions with overlapping features, such as Bloom syndrome and Werner syndrome.

Management

There is no cure for RTS, and management focuses on addressing the symptoms and complications associated with the syndrome. This may include:

• Regular dermatological evaluations
• Monitoring for the development of cataracts and other eye issues
• Surveillance for osteosarcoma and other cancers
• Supportive therapies for skeletal and dental anomalies

Prognosis

The prognosis for individuals with RTS varies depending on the severity of the symptoms and the presence of complications such as cancer. Early detection and management of complications can improve the quality of life for affected individuals.

Related Pages

• Genetic disorder
• Poikiloderma
• Osteosarcoma
• RECQL4
• Autosomal recessive
• Bloom syndrome
• Werner syndrome