Dermatology: Practical and Conceptual


Research Letter | Dermatol Pract Concept. 2023;13(3):e2023160 1

Can Cemiplimab Become a Life-Changer in 
Xeroderma Pigmentosum?

Maria Boziou1, Dimitrios Dionyssiou2, Dimitrios Dionyssopoulos3, Elizabeth Lazaridou1, 
Aimilios Lallas4, Zoe Apalla1

1 Second Dermatology Department, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

2 Department of Plastic Surgery, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

3 Department of Medical Oncology, Faculty of Medicine, School of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

4 First Dermatology Department, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

Key words: immune checkpoint inhibitors, cemiplimab, xeroderma pigmentosum, squamous cell carcinoma, melanoma

Citation: Boziou M, Dionyssiou D, Dionyssopoulos D, Lazaridou E, Lallas A, Apalla Z. Can Cemiplimab Become a Life-Changer in 
Xeroderma Pigmentosum?. Dermatol Pract Concept. 2023;13(3):e2023160. DOI: https://doi.org/10.5826/dpc.1303a160

Accepted: December 9, 2022; Published: July 2023

Copyright: ©2023 Boziou et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use, 
distribution, and reproduction in any medium, provided the original authors and source are credited.

Funding: None.

Competing interests: None.

Authorship: All authors have contributed significantly to this publication.

Corresponding author: Maria Boziou, MD, Agiou Pavlou 76, Thessaloniki, Greece tel:+302313323274 E-mail: mariaboziou@gmail.com

Introduction

Xeroderma Pigmentosum (XP) is a rare inherited autosomal 

recessive disease, resulting in defective repair of the ultravio-

let radiation induced DNA damage. Prognosis of xeroderma 

pigmentosum (XP) is unfavorable, with most patients dying 

from metastatic skin cancer before the age of 30.

Management is extremely challenging and includes strict 

avoidance of sun exposure, close monitoring and early thera-

peutic interventions. Cemiplimab is an anti-programmed cell 

death 1 (PD-1) antibody, approved for advanced nonmela-

noma Skin Cancers (NMSCs) and tested also for melanoma. 

Taking into account the spectrum of malignancies appearing 

in the context of XP, anti-PD-1 antibodies may represent the 

ideal treatment choice [1-8].

Case Presentation

A 29-year-old female with XP was referred to our onco- 

dermatology, multidisciplinary unit for management. The pa-

tient had undergone numerous surgical excisions in the past. 

Upon clinical examination, apart from extensive freckling 

and numerous actinic keratoses, we identified two atypical 

melanocytic lesions compatible with melanoma and multiple 

basal (BCC) and squamous cell carcinomas (SCC) (Figure 1). 

CT scan of chest, upper/lower abdomen and brain MRI were 

unremarkable.

We decided to proceed with an “en-bloc” resection of 

the skin of the forehead, due to the extreme cancer burden, 

plus resection of the second atypical melanocytic lesion of 

the lower face. Histologic examination of the forehead skin 



2 Research Letter | Dermatol Pract Concept. 2023;13(3):e2023160

showed a fully regressed melanoma, two SCCs and nine 

BCCs. The second melanocytic lesion was diagnosed as tu-

moral melanosis. Breslow thickness could not be defined due 

to full regression.

A combination of photodynamic therapy(PDT), sequen-

tially to 5% imiquimod cream, plus 10mg of daily oral ac-

itretin, as a prophylactic modality, were used. However, the 

locally advanced SCC of the eyelid that invaded the conjunc-

tiva posed a serious therapeutic dilemma, since its surgical 

removal would inevitably lead to eye loss. Considering the 

limitations of the surgery, the concomitant presence of a sec-

ond large SCC involving the right nasolabial fold and the 

overall NMSCs burden in the cancerized areas, we decided 

to set the patient under treatment with cemiplimab.

After 1.5 year of systemic treatment with cemiplimab, 

there is a remarkable response (Figure 2), with excellent tol-

erance and the treatment is still ongoing.

Conclusions

XP is an ideal model for studying effectiveness of immune 

checkpoint inhibitors (ICIs) on skin malignancies, especially 

when i0074 comes to the treatment of advanced SCCs and 

BCCs, coexisting with melanoma. Carrying out a literature 

review, we retrieved eight individuals with XP treated with 

ICIs, with only one of them receiving cemiplimab (Table 1). 

Overall, as in our patient, individuals receiving ICIs demon-

strated a constant response of locally advanced and meta-

static tumors of both origins, epithelial and melanocytic. 

Tolerability and safety were satisfactory as in our patient.

The particularity of the current case is the concomitant 

presence of unresectable NMSCs and two melanomas, which 

is a common scenario in the context of XP. ICIs, due to their 

dual therapeutic effect on both, epithelial and melanocytic 

skin cancers, may open a new therapeutic horizon, changing 

the so far unfavorable fate of XP patients.

Figure 1. Extreme photodamage, with multiple freckles, two mela-

nomas (arrows) and numerous Nonmelanoma Skin Cancers on the 

face, including two advanced squamous cell carcinoma, one at the 

right lower eyelid and one at the right nasolabial fold.

Figure 2. The patient after 1.5 year of cemiplimab initiation. We ob-

serve complete clinical response, not only of the unresectable squa-

mous cell carcinoma (SCC) of the right lower eyelid, but also of the 

non-resected SCC involving the right nasolabial fold, as well as of 

the multiple smaller Nonmelanoma Skin Cancers of the facial skin.



Research Letter | Dermatol Pract Concept. 2023;13(3):e2023160 3

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4 Research Letter | Dermatol Pract Concept. 2023;13(3):e2023160

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