Abstract
Xeroderma Pigmentosum (XP) is a rare genetic disorder with a poor prognosis due to high photosensitivity in affected patients.Herein, we describe the first case of the use of cemiplimab in a patient with XP, a 19-year-old girl presented with locally advanced squamous cell carcinoma of the right periorbital and nasal region. This treatment has been undertaken after a cycle of proton beam radiotherapy.Besides, it is reported a description of the few cases in the literature describing the effectiveness of immunotherapy on skin cancers in XP-patients.This case is in line with those reported, underlining how anti-PD1 monoclonal antibodies may be a promising treatment in this genodermatosis.
Highlights
Xeroderma Pigmentosum (XP) is a rare genodermatosis caused by an autosomal recessive genetic defect of the nucleotide excision repair (NER) pathway
Effective management is represented by careful protection against natural and artificial UV exposure, and early detection of skin cancers, which allows their treatment with surgery and topical drugs
Immune checkpoint inhibitors (ICIs) interfere with the escape mechanisms used by tumoral cells to evade immunosurveillance
Summary
Xeroderma Pigmentosum (XP) is a rare genodermatosis caused by an autosomal recessive genetic defect of the nucleotide excision repair (NER) pathway. It is reported a description of the few cases in the literature describing the effectiveness of immunotherapy on skin cancers in XP-patients.
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