Regression of melanoma metastases and multiple non-melanoma skin cancers in xeroderma pigmentosum by the PD1-antibody pembrolizumab

A Hauschild, J Eichstaedt, L Möbus, K Kähler… - European Journal of …, 2017 - ejcancer.com
Xeroderma pigmentosum (XP) is a rare autosomalrecessive disorder caused by defects in
the nucleotide excision repair, a DNA repair system which is responsible for removing DNA
damage induced by ultraviolet radiation (UV)[1]. Consequently XP patients suffer from
multiple skin tumours mostly non-melanoma skin cancers (NMSC) including squamous cell
carcinoma (SCC) and basal cell carcinoma (BCC), but also though less frequently malignant
melanomas (MMs). Surgical removal of these multiple tumours which occur already in early …