Treatment of Xeroderma Pigmentosum with Central and Peripheral Nervous System Abnormalities

This protocol covers xeroderma pigmentosum presenting with neurological involvement — abnormalities of both the central and peripheral nervous systems — including patients diagnosed with XP/CS complex.

XP is frequently complicated by central and peripheral nervous system abnormalities such as psychomotor retardation, whose progression and severity significantly influence prognosis. When XP/CS complex is confirmed, management follows dedicated guidelines for XP neurological disease.

Management of specific neurological complications — including larynx dystonia, which may underlie respiratory disorder in XP — involves targeted pharmacological intervention. The complete agent selection and structured regimen are outlined in the full protocol.

References

DOI: 10.1111/1346-8138.13907

  • In the majority of Japanese patients, XP is complicated with abnormalities in the central and peripheral nervous systems, such as psychomotor retardations of which progression and severity greatly influence the prognosis.
  • If the patient is diagnosed with XP/CS complex, conform to the guidelines for XP neurological disease.
  • In addition, it has been reported that a low dose of levodopa is effective for larynx dystonia, which is considered to be a cause of respiratory disorder in XP patients.
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