Xeroderma pigmentosum: a 12-year experience in digital dermoscopy and reflectance confocal microscopy follow-up at a...

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by a defect in the nucleotide excision repair (NER) pathway, responsible for repairing DNA damage induced by ultraviolet rays. The most common symptom in affected patients is an increased photosensitivity associated with early development of cutaneous and internal malignancies.

To describe whether the follow-up of xeroderma pigmentosum patients using total body mapping (TBM) with digital dermoscopy (DD) and in vivo reflectance confocal microscopy (RCM) increases early detection of melanoma and reduces unnecessary biopsies of benign melanocytic lesions.

Twelve XP patients were followed-up with TBM and DD from February 2008 until March 2020. The number of melanocytic lesions excised (NNE) was counted before and after the surveillance with TBM, DD, and RCM.

In the 12-year surveillance period, twelve XP patients were followed-up with TBM, DD, and RCM. The proportion of thinner and in situ melanomas diagnosed increased after the implementation of TBM and DD in the follow-up of this group (from 67% to 82%). The association of technologies caused a reduction in the NNE from 4.02 to 2.88 and promoted early detection of melanoma.

Maintaining regular follow-up with some XP patients can be challenging due to comorbidities and social issues. Although XP is a rare disease, this represents an especially small number of cases.

XP patients are generally submitted to multiple surgical excisions, with high morbidity. Based on this experience, TBM, DD and RCM have improved the early detection of melanoma and reduced the NNE with a positive impact on health and quality of life.