Xeroderma pigmentosum

Several topical creams are being developed for XP patients’ protection with chemical components to protect cells from developing skin cancer. One of these is a cream form with xenogenic repair enzymes (such as photolyase or T4 endonuclease) which has been shown to be effective as additional skin cancer prophylaxis in patients with XP²¹. This cream has not yet been approved for clinical use so clinicians are not yet prescribing it.

Immunotherapy is being studied as a therapy for cancer treatment. One of these approaches is using vismodegib to eliminate nodular basal cell carcinomas²² and there is another focused in inducing regression of melanoma metastases and also non-melanoma skin cancer²³.

Finally, some gene therapy is being studied in concrete cases to correct the original mutation and cause of the disease^24,25. Here there is the biggest collection of clinical trials in XP.

²¹Zahid, S. & Brownell, I. Repairing DNA damage in xeroderma pigmentosum: T4N5 lotion and gene therapy. J. Drugs Dermatol. 7, 405–8 (2008).

²²Fife, D., Laitinen, M. A., Myers, D. J. & Landsteiner, P. B. Vismodegib Therapy for Basal Cell Carcinoma in an 8-Year-Old Chinese Boy with Xeroderma Pigmentosum. Pediatr. Dermatol. 34, 163–165 (2017).

²³Hauschild, A., Eichstaedt, J., Möbus, L., … K. K.-E. J. of & 2017,  undefined. Regression of melanoma metastases and multiple non-melanoma skin cancers in xeroderma pigmentosum by the PD1-antibody pembrolizumab. ejcancer.com

²⁴Warrick, E. et al. Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells. Mol. Ther. 20, 798–807 (2012).

²⁵Dupuy, A. et al. Targeted Gene Therapy of Xeroderma Pigmentosum Cells Using Meganuclease and TALEN^TM. PLoS One 8, e78678 (2013).