Treatment of Xeroderma Pigmentosum with Central and Peripheral Nervous System Abnormalities

Clinical Scenario

This protocol applies to patients with confirmed xeroderma pigmentosum (XP) who present with abnormalities of the central and/or peripheral nervous systems, including those diagnosed with XP/Cockayne syndrome (XP/CS) complex. The degree and progression of neurological involvement — including psychomotor retardation — are key determinants of prognosis.

Neurological Considerations

Neurological complications are well recognised in XP and have a substantial impact on disease course and prognosis. Patients meeting criteria for XP/CS complex require management aligned with XP neurological disease guidelines. Respiratory complications arising from neurological involvement represent an additional area addressed by the full protocol.

Treatment Approach (Partial)

The full protocol includes pharmacological management directed at specific neurological manifestations — among them larynx dystonia, which is considered a contributor to respiratory complications in this setting. The complete regimen, clinical sequencing, and full set of options are available in the structured protocol below.

Instant Access to Structured Evidence-Based Regimens

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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