Xeroderma pigmentosum
ICD-10 Q82.1 · ICD-11 LD27.1

Xeroderma Pigmentosum with Central and Peripheral Nervous System Abnormalities

This protocol addresses patients diagnosed with xeroderma pigmentosum (XP) who present with abnormalities of the central and peripheral nervous systems, including those meeting criteria for XP/CS complex.

In a significant proportion of XP patients, the condition is complicated by neurological involvement — including psychomotor retardation and other central and peripheral nervous system abnormalities — where the progression and severity of these neurological features substantially influence prognosis.

Patients who meet the diagnostic criteria for XP/CS complex require management aligned with guidelines for XP neurological disease.

As disease progression affects respiratory function, the protocol addresses airway management considerations — including specific surgical interventions — that may become necessary as the frequency of respiratory complications increases.

The complete protocol details the full clinical algorithm, criteria for intervention, and sequencing. See the full regimen below.

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References

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.

If the frequency of respiratory disorder increases, separation of the laryngotracheal tube or tracheotomy might be required.

DOI: 10.1111/1346-8138.13907
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