Acta Dermato-Venereologica 97-6 97-6CompleteContent | Seite 14

720 CLINICAL REPORT Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy Priscila GIAVEDONI, Marnie RIRIE, Cristina CARRERA, Susana PUIG and Josep MALVEHY Department of Dermatology, Hospital Clinic of Barcelona, Barcelona, Spain Li-Fraumeni syndrome (LFS) is a rare autosomal domi- nant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial com- ponent 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 be­tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2. Ex- cisions 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 mela- noma in case 2. The remaining melanocytic lesions in both patients were stable during follow-up. The 3 me- lanomas were new atypical lesions detected with total- body photography and dermoscopy. In conclusion, mo- nitoring LFS patients with total-body photography and dermoscopy may be useful to detect early melanoma. Key words: familial melanoma; Li-Fraumeni syndrome; atypical mole syndrome; digital total-body; photography; dermo­scopy; confocal microscopy. Accepted Feb 20, 2017; Epub ahead of print Feb 20, 2017 Acta Derm Venereol 2017; 97: 720–723. Corr: Priscila Giavedoni, Department of Dermatology, Hospital Clinic of Barcelona, ES-08012 Barcelona, Spain. E-mail: [email protected] L i-Fraumeni syndrome (LFS) was initially described in 1969 (1). In 1990, the p53 tumour suppressor gene was discovered as the most common underlying genetic abnormality in LFS (2). LFS is an autosomal dominant syndrome in which members of the same family expe- rience multiple cancers, beginning at a young age. Many malignancies have been associated with the p53 muta- tion; including soft tissue sarcomas, osteosarcoma, breast cancer, brain cancer, leukaemia, multiple myeloma and ovarian cancer (3). The association of melanoma with familial cancer syndromes was first reported in 1987 and, specifically, with LFS in 2011, when 5 melanomas were reported in a single patient with a heterozygous germline mutation for p53 (4, 5). The authors note that the association of melanoma with LFS has been spora- dic and controversial (4). On review of the literature we found no guidelines or reports of systematic follow-up of pigmented skin tumours in patients with LFS. doi: 10.2340/00015555-2639 Acta Derm Venereol 2017; 97: 720–723 We report here the systematic dermatological follow- up of identical twin sisters with LFS and melanoma. PATIENTS AND METHODS Two identical twin sisters, 28 years old, both with a diagnosis of LFS and atypical moles were included in a follow-up protocol in the Melanoma Unit of the Hospital Clinic of Barcelona. They had been diagnosed with LFS according to clinical criteria (6, 7) and in patient 1 who accepted genetic testing, a p53 mutation was confirmed. Both sisters had wild-type CDKN2A genes. A dermatologist completed a standardized full-skin examination, excluding the genital area. This standardized skin examination with naevus count protocol has been validated previously and found to be reproducible (8, 9). Naevi were recorded by size in 3 categories (> 2 and < 5 mm, > 5 and < 10 mm and > 10 mm). Skin type was assessed according to the Fitzpatrick classification, as described previously (10). Hair and eye colour were also recorded. Physical examination, dermoscopy with a hand-held dermatoscope of all pigmented lesions, and digital photography, including total-body photography and photographic dermoscopy was completed every 3–6 months for the 2 patients, from 2006 to 2014, according to the previously reported 2-step method (11). A commercially available device for digital photography was used in these 2 cases (Molemax TM, Derma Instruments, Vienna, Austria). New lesions or changes in pigmented lesions were systematically recorded. New lesions with atypia, detected with total-body photography, or atypical changes in pre-existing lesions, detected with dermoscopy, were biopsied. Additional characteristics of the patients Case 1: Had a melanoma in situ of the right ankle diagnosed in 2004, and multiple cancers, including: breast, adrenal and osteo- sarcoma of the rib. She began digital photographic monitoring in 2006. The patient had had moderate sun exposure in her childhood/ adolescence, and had sunburned at least 5 times with peeling, but no blistering. She had also used tanning beds approximately 10 times when she was approximately 19 years old. She reported adequate sun protection at the time of her first visit to our centre. Fitzpatrick skin type III, brown eyes and brown hair. Case 2: Had a history of ductal carcinoma in-situ of the breast diagnosed in 2003. She had intermediate sun exposure in her childhood/adolescence, with sunburns at least 10 times with pe- eling, but no blistering. She had used tanning beds approximately 5 times when she was approximately 19 years old. She reported adequate sun protection at the time of her first visit to our centre. Fitzpatrick skin type III with green eyes and brown hair. Family history The sisters’ father had cancer of unknown primary with metastases to the liver, bone and lungs. They had a paternal uncle with a skin cancer of uncertain type, possibly melanoma, and another with an This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2017 Acta Dermato-Venereologica.