Key clinical message

Xeroderma Pigmentosum significantly increases the risk of developing skin and internal malignancies, with rare associations such as spindle cell carcinoma. Patients with XP may present with atypical symptoms like cough, haemoptysis, and shortness of breath, which should prompt further investigation for potential malignancies. Additionally, neurological symptoms like focal seizures can occur alongside malignancies, complicating the clinical presentation and management. Early detection and treatment are crucial, but in advanced cases, palliative care may be necessary due to limited treatment options and the progressive nature of the disease.