title: Therapeutic response of a brother and sister with xeroderma pigmentosum to imiquimod 5% cream.
abstract: BACKGROUND
  Xeroderma pigmentosum (XP) is an autosomal recessive disease marked by solar sensitivity, photophobia, early onset of freckling, and solar-induced cutaneous neoplastic changes. These patients can often develop hundreds of cutaneous tumors, making surgical therapy difficult. Imiquimod 5% cream has been shown to have activity in treating various cutaneous malignancies.
  
  
  OBJECTIVE
  To examine the effectiveness and tolerability of imiquimod 5% cream in treating facial basal cell carcinomas (BCCs) in a brother and sister with XP. These patients were developing skin cancers faster than could be managed surgically and had failed 6 months of chemoprophylaxis with isotretinoin.
  
  
  METHODS
  Imiquimod 5% cream was applied to the faces of these two patients as frequently as tolerated, with the goal of gaining control over the many clinically evident BCCs present on the faces of these siblings. We also examined whether we could reduce the rate of new neoplasm development.
  
  
  RESULTS
  The brother in our study tolerated imiquimod 5% cream twice a day every day with minimal inflammatory response. He had clinical resolution of many of the BCCs present within the treatment area as well as shrinking of many of the remaining lesions. He has continued to produce new tumors at a substantially reduced rate relative to his pretreatment baseline. The sister in our study exhibited a severe inflammatory response to imiquimod 5% cream, with facial swelling and erosion of the treated area with application as infrequent as three times a week. In spite of the vastly different inflammatory response, her cutaneous tumors responded favorably to therapy as well.
  
  
  CONCLUSIONS
  Imiquimod 5% cream was effective in treating facial BCCs in these siblings with XP. As well, we have noted a significant reduction in the development of new tumors within the imiquimod-treated area. The inflammatory response to this medicine was at opposite extremes among these two siblings. However, this did not appear to alter the therapeutic benefit of this therapy.
authors.affiliation: Department of Dermatology, Weill Cornell Medical School, New York, New York 10021, USA.
authors.forename: Noah Kawika
authors.initials: NK
authors.lastname: Weisberg
authors.forename: Matthew
authors.initials: M
authors.lastname: Varghese
mesh_terms: D000634:Aminoquinolines / Q000008:administration & dosage / Q000627:therapeutic use*; D000970:Antineoplastic Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D002280:Basal Cell Carcinoma / Q000188:drug therapy; D004361:Drug Tolerance; D005153:Facial Neoplasms / Q000188:drug therapy; D005260:Female; D006801:Humans; D000077271:Imiquimod; D008297:Male; D009824:Ointments; D012878:Skin Neoplasms / Q000188:drug therapy* / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000188:drug therapy* / Q000235:genetics
chemical_list: D000634:Aminoquinolines; D000970:Antineoplastic Agents; D009824:Ointments; D000077271:Imiquimod