title: Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy.
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.
authors.affiliation: Department of Dermatology, Hospital Clinic, 08012 Barcelona, Spain. giavedonip@gmail.com.
authors.forename: Priscila
authors.initials: P
authors.lastname: Giavedoni
authors.forename: Marnie
authors.initials: M
authors.lastname: Ririe
authors.forename: Cristina
authors.initials: C
authors.lastname: Carrera
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
authors.forename: Josep
authors.initials: J
authors.lastname: Malvehy
mesh_terms: D000328:Adult; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000473:pathology*; D046169:Dermoscopy; D004416:Dysplastic Nevus Syndrome / Q000235:genetics / Q000473:pathology*; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000473:pathology*; D008545:Melanoma / Q000235:genetics / Q000473:pathology*; D018613:Microscopy, Confocal; D009361:Neoplasm Invasiveness; D010375:Pedigree; D010641:Phenotype; D010781:Photography; D011237:Predictive Value of Tests; D011379:Prognosis; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D013997:Time Factors; D014430:Twins, Monozygotic / Q000235:genetics; D000096142:Cutaneous Malignant Melanoma