Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy

Acta Derm Venereol. 2017 Jun 9;97(6):720-723. doi: 10.2340/00015555-2639.

Abstract

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and atypical mole syndrome. Two 28-year-old identical twin sisters with LFS and atypical moles were monitored by physical examination, total-body digital photography and dermoscopy be-tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2. Excisions were performed during the evaluation period of 1 in-situ melanoma and 3 basal cell carcinomas in case 1, and 1 in-situ melanoma and 1 early invasive melanoma in case 2. The remaining melanocytic lesions in both patients were stable during follow-up. The 3 melanomas were new atypical lesions detected with total-body photography and dermoscopy. In conclusion, monitoring LFS patients with total-body photography and dermoscopy may be useful to detect early melanoma.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Adult
  • Carcinoma, Basal Cell / genetics
  • Carcinoma, Basal Cell / pathology*
  • Dermoscopy*
  • Dysplastic Nevus Syndrome / genetics
  • Dysplastic Nevus Syndrome / pathology*
  • Early Detection of Cancer / methods*
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Li-Fraumeni Syndrome / genetics
  • Li-Fraumeni Syndrome / pathology*
  • Melanoma / genetics
  • Melanoma / pathology*
  • Melanoma, Cutaneous Malignant
  • Microscopy, Confocal*
  • Neoplasm Invasiveness
  • Pedigree
  • Phenotype
  • Photography*
  • Predictive Value of Tests
  • Prognosis
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology*
  • Time Factors
  • Twins, Monozygotic / genetics