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BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair. It is divided into eight complementation groups: XP-A to XP-G (classical XP) and XP variant (XP-V). Severe and prolonged sunburn reactions on minimal sun exposure have been considered a cardinal feature of classical XP. However, it has recently become clear that not all patients have abnormal sunburn reactions. OBJECTIVES: To examine sunburn reactions in a cohort of patients with XP and correlate this to the complementation group. METHODS: Sixty patients with XP attending the U.K. National XP Service from 2010 to 2012 were studied. Their history of burning after minimal sun exposure was assessed using a newly developed sunburn severity score. The age at which the first skin cancer was histologically diagnosed in each patient, and the presence of any neurological abnormality, was also recorded. RESULTS: Sunburn severity scores were abnormally high in patients with XP-A, XP-D, XP-F and XP-G compared with non-XP controls. There was no significant difference in sunburn score of patients with XP-C, XP-E and XP-V compared with controls (P > 0·05). Patients with XP-C, XP-E and XP-V were more likely to have skin cancer diagnosed at an earlier age than those with severe sunburn on minimal sun exposure. In addition, patients with XP with severe sunburn had an increased frequency of neurological abnormalities. CONCLUSIONS: Not all patients with XP have a history of severe and prolonged sunburn on minimal sun exposure. The normal sunburn response of patients with XP-C, XP-E and XP-V may relate to the preservation of transcription-coupled DNA repair in these groups. Those with a history of severe sunburn on minimal sun exposure developed their first skin cancer at an older age compared with patients with XP-C, XP-E and XP-V, but they had an increased frequency of neurological abnormalities. Physicians need to be aware that about half of all patients with XP will present without a history of abnormal sunburn.

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Xeroderma pigmentosum (XP) is a rare inheritable disease characterized by severe sun sensitivity and early development of skin cancers. We compared the expression of cell proliferation markers and cell cycle checkpoint regulators in squamous cell carcinomas (SCC) and basal cell carcinomas (BCC) from patients with and without XP. Immunostaining for p53, Ki-67, and proliferating cell nuclear antigen (PCNA) was determined in SCCs and BCCs from 18 XP patients and 30 controls. Nine of the 18 XP patients had SCC and BCC, and the other nine had only SCC. In the control group, 15 moderately differentiated SCCs and 15 BCCs were evaluated. Expressions of p53, Ki-67 and PCNA in XP and non-XP patients were assessed statistically by using the Chi-square method. Expression of Ki-67 and PCNA was found to be greater in SCC from XP patients than controls (P = 0.021 and P = 0.033, respectively). Expression of PCNA and p53 by BCCs was greater in XP patients (P < 0.001 and P = 0.027, respectively). There was a significant difference in Ki-67 (P < 0.001) and PCNA (P = 0.001) expression between the lesions of the XP patients who died during the follow up and XP patients who survived. In XP patients, SCCs with more than 10% Ki-67 expression and %50 PCNA expression have a poor prognosis. Our results suggest that increased Ki-67 and PCNA expression may be a predictor for recurrence of nonmelanocytic skin cancer and a poor prognosis.

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PURPOSE: To present our experience with the clinical features and management of black African patients with xeroderma pigmentosum (XP). PATIENTS AND METHODS: Twelve patients with XP were seen over a 25-year period, and were retrospectively reviewed for age, gender, clinical features, treatment, and follow-up. RESULTS: There were 8 females and 4 males with an age range of 3 to 18 years. One patient, the longest survivor, was followed until death at 18 years. Nine patients had the severe form of XP and 3 had the mild form. All patients had early ocular involvement with photophobia and early blindness. Squamous cell carcinoma (SCC) was present on the skin, lip, and tongue in most patients. One patient had ocular surface SCC. There was marked skin photosensitivity. No history of consanguinity was noted in the parents of the patients. Surgery was the treatment modality of choice. Follow-up was poor. CONCLUSION: XP is uncommon in our black population, and presents in the severe form with SCC as the malignant skin, lip, and tongue lesion. It is common in early childhood with severe photosensitivity, photophobia, and eventual blindness. Follow-up is difficult in our environment.

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El xeroderma pigmentoso es una enfermedad rara, de herencia auosómica recesiva que presenta como principal manifestación clínica lesiones cutaneas y tumores malignos dérmicos en áreas expuestas al sol debido a la imposibilidad de neutralizar los efectos nocivos de los rayos uv. Exsisten además manifestaciones oculares, orales y en algunos casos síntomas neurológicos. En su tratamiento es muy importante la prevencion y una vez aparecidas las lesiones, extirpación de las mismas y reconstrucción por diversos métodos. Cuando aparecen lesiones premalignas podemos optar por métodos, como la dermabrasión o peeling junto con el tratamiento médico con retinoides y/o interferon. Exponemos nuestra experiencia en 9 casos tratados en nuestro servicio (AU)

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We have documented mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with xeroderma pigmentosum resident in Britain. For both diseases, parents of patients are obligate heterozygotes and grandparents have a probability of heterozygosity of 0.5. Fourteen ataxia-telangiectasia patients had died by June 30, 1986. This was a significant excess (14 deaths observed, 1.65 expected). Only one death was from a malignancy (non-Hodgkin's lymphoma). Three parents of ataxia-telangiectasia patients had died, all from cancer. The excess from breast cancer (two deaths observed, 0.17 expected) was statistically significant, p less than 0.05. However, no excess mortality from malignant neoplasms was found in the grandparents. Five xeroderma pigmentosum patients had died, none from internal malignancies. No excess mortality from malignant neoplasms was recorded in either their parents or grandparents.

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Mortality and malignancy were studied in a series of 32 patients with xeroderma pigmentosum presenting during the period 1950-84. Twenty-nine of the patients were followed to the end of 1984 using the National Health Service Central Register, and hospital case records and correspondence with referring physicians; three patients had incomplete follow-up. Three of the patients developed malignant melanoma during follow-up, but none developed internal malignancy. Two males and one female died [standardized mortality ratio (SMR) = 971, P less than 0.05, for males; SMR = 1931, not significant, for females]. All three deaths were from non-malignant causes: severe neurological involvement with terminal infection. This high mortality from neurological complications in xeroderma pigmentosum patients contrasts with previously reported mortality, particularly from actinic-induced cutaneous tumours.

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