Poikiloderma of Rothmund–Thomson

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Poikiloderma of Rothmund–Thomson
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Poikiloderma of Rothmund–Thomson (also known as Rothmund–Thomson syndrome) is a rare, autosomal recessive skin condition characterized by a variety of symptoms, including rash, dwarfism, cataracts, premature aging, and a predisposition to cancer. The syndrome is named after August von Rothmund, a German ophthalmologist who first described the condition in 1868, and Sydney Thomson, a British dermatologist who further characterized the condition in 1936.

Symptoms and Signs

The hallmark of Poikiloderma of Rothmund–Thomson is its skin manifestations, which typically appear in infancy or early childhood. The skin changes include:

• Rash that progresses to poikiloderma, a condition where the skin becomes atrophic, pigmented, and telangiectatic, often in a net-like pattern.
• Photosensitivity, leading to increased risk of sunburn and skin damage under sun exposure.
• Sparse hair, eyelashes, and eyebrows.

Other symptoms may include:

• Skeletal abnormalities such as short stature and radial ray defects.
• Dental anomalies.
• Gastrointestinal disturbances.
• Increased risk of developing osteosarcoma and skin cancers.

Causes

Poikiloderma of Rothmund–Thomson is caused by mutations in the RECQL4 gene, which is involved in DNA repair and maintenance of genomic stability. The inheritance pattern is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

Diagnosis

Diagnosis of Poikiloderma of Rothmund–Thomson is primarily based on clinical observation of the characteristic skin changes and symptoms. Genetic testing can confirm mutations in the RECQL4 gene, providing a definitive diagnosis.

Treatment

There is no cure for Poikiloderma of Rothmund–Thomson, and treatment focuses on managing symptoms and preventing complications. Management strategies may include:

• Protective measures against sun exposure, such as the use of sunscreen and protective clothing.
• Regular monitoring for the development of cataracts and cancers.
• Surgical interventions for skeletal abnormalities and cataracts, as needed.

Prognosis

The prognosis for individuals with Poikiloderma of Rothmund–Thomson varies depending on the severity of symptoms and the development of complications such as cancer. With appropriate management, many individuals with the syndrome can lead relatively normal lives.

See Also

• Genodermatoses
• DNA repair-deficiency disorder
• Autosomal recessive disorder

Poikiloderma of Rothmund–Thomson Resources
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