Anna Zampetti1, Gabriella Silvestri2, Simona Manco3, Katy Khamis3, Marcella Masciullo4, Maria Laura Ester Bianchi2, Antonello Damiani5, Massimo Santoro6, Dennis Linder7, Anthony Bewley8, Claudio Feliciani9. 1. Department of Dermatology, Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy; Department of Dermatology, Barts NHS (National Health System) Trust, London, United Kingdom. Electronic address: anna.zampetti@gmail.com. 2. Department of Neurology, Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. 3. Department of Dermatology, Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy. 4. Department of Neurology, Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy; San Raffaele Pisana, Istituto di Ricovero e Cura a Carattere Scientifico (IRCSS), Rome, Italy. 5. Unione Italiana Lotta alla Distrofia Muscolare, Rome, Italy. 6. Don Carlo Gnocchi Foundation Organizzazione non lucrativa di utilità sociale (ONLUS), Milan, Italy. 7. Department of Dermatology, University of Padua, Padua, Italy; University Clinic for Medical Psychology, Psychotherapy and Psychosomatics, Medical University of Graz, Graz, Austria. 8. Department of Dermatology, Barts NHS (National Health System) Trust, London, United Kingdom. 9. Department of Dermatology, University of Parma, Parma, Italy.
Abstract
BACKGROUND: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignancies. The association of myotonic dystrophy with cutaneous tumors is not fully understood. OBJECTIVE: We sought to explore the total nevi count and the presence of atypical nevi, cutaneous melanoma, and other skin neoplasms in a representative cohort of patients with MD1 and to compare the findings with age- and sex-matched control subjects. METHODS: In all, 90 patients with MD1 and 103 age- and sex-matched control subjects were assessed for cutaneous neoplasms by clinical skin and epiluminescence examination (dermoscopy). Where indicated, subsequent excisions were performed. In patients with MD1, leukocyte n(CTG) expansion was measured. RESULTS: Patients with MD1 showed significantly higher numbers of nevi, dysplastic nevi, and melanomas despite a significantly greater proportion of the control subjects reporting sunburns. In addition, we found a significantly greater number of pilomatrixoma in patients with MD1. LIMITATIONS: Our study is limited by the fact that there is no agreed-upon standardized technique to assess for prior sun exposure. Further research in the association of cutaneous neoplasms and MD1 including vitamin D and molecular biological techniques are also recommended. CONCLUSION: MD1 itself may predispose to development of skin tumors.
BACKGROUND:Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignancies. The association of myotonic dystrophy with cutaneous tumors is not fully understood. OBJECTIVE: We sought to explore the total nevi count and the presence of atypical nevi, cutaneous melanoma, and other skin neoplasms in a representative cohort of patients with MD1 and to compare the findings with age- and sex-matched control subjects. METHODS: In all, 90 patients with MD1 and 103 age- and sex-matched control subjects were assessed for cutaneous neoplasms by clinical skin and epiluminescence examination (dermoscopy). Where indicated, subsequent excisions were performed. In patients with MD1, leukocyte n(CTG) expansion was measured. RESULTS:Patients with MD1 showed significantly higher numbers of nevi, dysplastic nevi, and melanomas despite a significantly greater proportion of the control subjects reporting sunburns. In addition, we found a significantly greater number of pilomatrixoma in patients with MD1. LIMITATIONS: Our study is limited by the fact that there is no agreed-upon standardized technique to assess for prior sun exposure. Further research in the association of cutaneous neoplasms and MD1 including vitamin D and molecular biological techniques are also recommended. CONCLUSION: MD1 itself may predispose to development of skin tumors.
Authors: Youjin Wang; Ruth M Pfeiffer; Rotana Alsaggaf; Wilhelmine Meeraus; Julia C Gage; Lesley A Anderson; Renée C Bremer; Nikoletta Nikolenko; Hanns Lochmuller; Mark H Greene; Shahinaz M Gadalla Journal: Int J Cancer Date: 2017-11-20 Impact factor: 7.396
Authors: Rotana Alsaggaf; Diane Marie M St George; Min Zhan; Ruth M Pfeiffer; Youjin Wang; Lesley A Anderson; Zhiwei Liu; Jill Koshiol; Andrew J Bauer; Kathryn R Wagner; Mark H Greene; Sania Amr; Shahinaz M Gadalla Journal: Ann Clin Transl Neurol Date: 2019-07-26 Impact factor: 4.511