CLINICAL REPORT
667 ActaDV ActaDV Advances in dermatology and venereology Acta Dermato-Venereologica
Unscheduled Visits of Patients with Familial Melanoma to a Pigmented Lesion Clinic : Evaluation of Patients ’ Characteristics and Suspicious Lesions
Rania NABIL , Elsemieke PLASMEIJER , Remco VAN DOORN , Wilma BERGMAN and Nicole A . KUKUTSCH Department of Dermatology B-1-Q , Leiden University Medical Center , Leiden , The Netherlands
Approximately 10 % of all melanomas occur in subjects with a family history of melanoma . This retrospective follow-up study investigated the characteristics of patients with familial melanoma who made unscheduled visits to our pigmented lesions clinic , and the diagnosis of excised lesions . A total of 110 ( 9 %) out of 1,267 patients made at least one unscheduled visit between May 2011 and February 2016 . Histopathology was taken from 59 patients . Thirty-four naevi , 7 melanomas and 3 basal cell carcinomas were detected . All patients with melanoma were CDKN2A carriers and all melanomas were discovered at a very early stage . In this patient population it appears to be safe to limit visits to once or twice yearly , provided patients are easily able to make an unscheduled extra visit if they have a worrisome lesion . We recommend supporting patients ’ self-reliance by stimulating them to carry out self-examination of their skin .
Key words : familial atypical multiple mole melanoma ; p16 ; CD- KN2A ; melanoma ; skin self-examination ; unscheduled visit .
Acta Derm Venereol 2018 ; 98 : 667 – 670 . Accepted Mar 15 , 2018 ; Epub ahead of print Mar 15 , 2018
Corr : Nicole A . Kukutsch , Department of Dermatology B-1-Q , Leiden University Medical Center , PO Box 9600 , 2300 ZA Leiden , The Netherlands . E-mail : N . A . Kukutsch @ lumc . nl
Familial aggregation of melanomas is reported to occur in approximately 5 – 10 % of all melanomas ( 1 ). In up to 40 % of these families a mutation is present in the high penetrance melanoma susceptibility gene CD- KN2A ( 2 ). In the Netherlands , the most prevalent CD- KN2A germline mutation is a specific founder mutation ( c . 225-243del19 ), known as the p16-Leiden mutation ( 3 ). The second known mutation is found on the CDK4 gene on chromosome 12 , which occurs in approximately 3 % of melanoma families ( 4 ). Reports on the mean age of diagnosis of the first melanoma in these families range from 33 – 36 years in patients with CDKN2A gene mutation , to 41 – 45 years in patients without a CDKN2A gene mutation ( with an unknown mutation ) ( 2 , 5 , 6 ). In patients with a CDKN2A mutation the lifetime risk for developing melanoma is 70 % at the age of 80 years , with a 30 % chance of developing multiple melanomas ( 5 , 7 ).
The Leiden University Medical Center is a tertiary referral centre for ( familial ) melanoma , where the first
SIGNIFICANCE
This study investigated if patients with a high risk for melanoma who visited a pigmented lesion clinic at least once per year also returned for unscheduled visits and we report on the lesions that were found . Nine percent of the patients came for an unscheduled visit and 7 early melanomas were found in carriers of a high risk mutation for melanoma . In this population it is safe to limit regular visits to once or twice yearly , as long as patients get instructions for skin self-examination and have readily access to pay an extra visit when they have a worrisome lesion .
surveillance programme for familial melanoma was initiated in 1981 . Family members at high risk of developing melanoma visit the pigmented lesions clinic ( PLC ) for a total skin examination at least once a year .
It is not known what proportion of patients return for an unscheduled visit and what the characteristics of these patients are . Moreover , it is not known if these visits lead to the discovery of melanomas . To investigate these questions , patients ’ characteristics and pathology outcomes for high-risk family members who paid at least one interval visit during the period of the study were analysed . It was hypothesized that younger patients and those who were carriers of a gene mutation would return for an unscheduled visit more often . In addition , it was hypothesized that most patients would present with a lesion on the front of the body , due to its visibility .
METHODS
This retrospective study investigated the clinical and histological characteristics of patients who had paid one or more unscheduled visit to the PLC of the Department of Dermatolog , Leiden University Medical Centre ( LUMC ), Leiden , the Netherlands , over a 5-year period .
Set up of pigmented lesions clinic
Patients at high risk of developing melanoma visit the PLC for a total skin examination at least once a year . Like all other patients who visit the PLC they repeatedly receive information and practical tips on how to perform adequate skin self-examination , including instructions on how to use 2 mirrors to examine their back , or to ask their partner to assist with the skin check . Patients are also instructed to make unscheduled visits whenever they are worried about a particular lesion .
This is an open access article under the CC BY-NC license . www . medicaljournals . se / acta Journal Compilation © 2018 Acta Dermato-Venereologica . doi : 10.2340 / 00015555-2922 Acta Derm Venereol 2018 ; 98 : 667 – 670