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