Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review

Abstract

Background Xeroderma pigmentosum (XP) is a rare genodermatosis with a lifelong propensity to develop malignant skin tumors. Methods In this retrospective study, 24 XP patients were evaluated with regard to frequency and clinicopathological features of benign and malignant skin tumors. Results Seventeen patients had at least one malignant skin tumor diagnosed: basal cell carcinoma (BCC) in 13 patients (n = 72), basosquamous carcinoma in three patients (n = 4), squamous cell carcinoma in six patients (n = 13), keratoacanthoma in three patients (n = 15), and melanoma in six patients (n = 18). Most melanomas (n = 15) were in situ lesions. Several benign skin tumors were noted such as tricholemmoma (n = 1), trichoepithelioma (n = 1), trichoblastoma (n = 1), follicular infundibulum tumor (n = 1), keratoacanthoma‐like follicular lesion (n = 1), adnexal tumors with folliculosebaceous (n = 1) and tricholemmal differentiation (n = 1), and neurofibroma (n = 1). Benign vascular proliferations including pyogenic granulomas (n = 8), widespread telangiectasias, and senile angioma‐like lesions were also observed in 3, 5, and 5 patients, respectively. Conclusions Similar to many reports, BCC was found to be the most common malignant skin tumor. The high prevalence of benign adnexal tumors of follicular differentiation, some of them showing mixed histopathological features and various vascular proliferations in our series raises the question of whether they indicate a formerly undescribed association with XP.

Clinical and molecular characterization of Xeroderma pigmentosum in Moroccan population: a case series of 40 patients

“…The mean age of XP diagnosis was 9.67 years which is consistent with previous studies [7,19]. However, the mean age for the development of the first skin cancer in our Moroccan cohort was 12.34 years.…”

“…However, the mean age for the development of the first skin cancer in our Moroccan cohort was 12.34 years. This average age difference compared to other studies [7,19] could be explained by the fact that the patients attended at the university hospital present at a relatively advanced age, after a long history of cumulative sun exposure without rigorous sun protection. In fact, six patients presented at an age above 18 years.…”

“…The risk of skin cancers, such as BCCs, SCCs and cutaneous melanoma, is particularly increased in patients with XP. These cutaneous manifestations are often associated with ocular lesions and sometimes neurological symptoms [6,7].…”

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

“…Being an inherited disease, a radical cure today is unexpected in XP disorder, and cancer is the major cause of mortality and morbidity in these patients. There is no standard therapy for skin cancer of XP [13]. Chemotherapeutics might cause substantial organ toxicity and usually need to be used in reduced doses, which decrease the survival rates.…”

First report of oral angiokeratoma in a xeroderma pigmentosum

“…It is questionable whether the vascular lesions seen in XP patients are reactive lesions due to ultraviolet damage or an increased tendency to develop vascular proliferation as senile angioma-like small red papular lesions and pyogenic granulomas which were detected both in adult and child patients [ 10 ].…”