title: Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome.
abstract: BACKGROUND
  Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract. Gorlin-Goltz patients need multidisciplinary medical care and follow-up as well as genetic counseling if the patients want to have children. The treatment of multiple BCCs includes conventional surgery, micrographic Mohs surgery, cryotherapy, laser ablation, photodynamic therapy, imiquimod 5% cream, 5-fluorouracil cream as well as the sonic hedgehog pathway inhibitor vismodegib.
  
  
  METHODS
  We report the case of a 30-year-old woman seen in our dermatological department since 2003. All the above-mentioned modalities had been employed for her numerous BCCs. The patient grew wary of the surgical procedures because of the countless scars. We successfully treated multiple BCCs with ingenol mebutate without post-inflammatory scarring. At 8-month follow-up, the patient shows no recurrence of the treated lesions.
  
  
  CONCLUSIONS
  Ingenol mebutate can be used to treat (superficial) BCCs in patients with Gorlin-Goltz syndrome as an additional modality. Close clinical follow-up is recommended.
authors: Department of Dermatology, University Hospital Inselspital, University of Bern, Bern, Switzerland.
authors: Marco
authors: M
authors: Stieger
authors: Robert E
authors: RE
authors: Hunger
mesh_terms: D000279:Administration, Cutaneous; D000328:Adult; D000970:Antineoplastic Agents / Q000008:administration & dosage*; D001415:Back; D001478:Basal Cell Nevus Syndrome / Q000188:drug therapy*; D004224:Diterpenes / Q000008:administration & dosage*; D005260:Female; D006801:Humans
chemical_list: C486592:3-ingenyl angelate; D000970:Antineoplastic Agents; D004224:Diterpenes