Multiple cutaneous malignancies in a patient of xeroderma pigmentosum

J Cancer Res Ther. 2011 Apr-Jun;7(2):205-7. doi: 10.4103/0973-1482.82932.

Abstract

Xeroderma pigmentosum is a genodermatosis characterized by photosensitivity and the development of cutaneous and internal malignancies at an early age. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect, leading to defective repair of DNA damaged by ultraviolet radiation. These patients exhibit enhanced sensitivity to ionizing radiation. Patients with xeroderma pigmentosum who are younger than 20 years of age have a greater than 1000-fold increased risk of developing skin cancer. Early detection of these malignancies is necessary because they are fast growing, metastasize early and lead to death. Although, early detection and treatment of cutaneous malignancies will reduce the morbidity and mortality, genetic counseling remains the most important measure for preventing xeroderma pigmentosum. We report a case of xeroderma pigmentosum in an 18-year-old male presenting with multiple cutaneous malignancies: squamous cell carcinoma, malignant melanoma and pigmented basal cell carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Carcinoma, Basal Cell / diagnosis*
  • Carcinoma, Basal Cell / pathology
  • Carcinoma, Squamous Cell / diagnosis*
  • Carcinoma, Squamous Cell / pathology
  • Head and Neck Neoplasms / diagnosis*
  • Head and Neck Neoplasms / pathology
  • Head and Neck Neoplasms / surgery
  • Humans
  • Male
  • Melanoma / diagnosis*
  • Melanoma / secondary
  • Neoplasm Recurrence, Local / pathology*
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / pathology
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / pathology
  • Skin Neoplasms / surgery
  • Xeroderma Pigmentosum / diagnosis*
  • Xeroderma Pigmentosum / pathology
  • Xeroderma Pigmentosum / surgery