Xeroderma Pigmentosum: Tailoring Anesthesia for the 'Vampire Disease’

Abstract

Background : Xeroderma pigmentosum (XP) is a recessive genetic disorder causing defective DNA repair due to ultraviolet (UV) light exposure. Challenges include difficult airway and prolonged effects of muscle relaxants. No definitive safe anesthetics are established. The case study involves an XP patient undergoing mass excision with general anesthesia.

Case Illustration : A 10-year-old girl with xeroderma pigmentosum was admitted for excision of a mass. The mass was diagnosed as basal cell carcinoma. Ventilation was challenging. Preparation for general anesthesia included careful airway management and ventilation tests. The patient was not premedicated to avoid unnecessary sedation and was covered with a blanket to minimize UV exposure. the patient was administered fentanyl and propofol, titrated to induce sleep while maintaining spontaneous breathing. After confirming adequate ventilation, atracurium (0.25 mg/kg) was given and intubation was performed. Anesthesia maintenance was managed with Total Intravenous Anesthesia (TIVA) propofol and 2% lidocaine infiltration around the lesion. Post-surgery, the patient was extubated awake and responsive. Postoperative analgesia included ibuprofen (10 mg/kg), and the patient was discharged after 2 days of recovery.

Conclusion : Patients with xeroderma pigmentosum (XP) require special considerations for anesthesia to avoid worsening their condition. In the discussed case, TIVA was chosen over volatile anesthetics. Additionally, neuromuscular relaxants were used at reduced doses, and multimodal analgesia was used to minimize opioid use. Further research with larger sample sizes is needed to identify the most optimal anesthetic approach for XP patients.