Hugo Néstor Cabrera; Yanina Mohr; Lina Nuñez

Authors

Hugo Néstor Cabrera University of Buenos Aires, Autonomous City of Buenos Aires, Argentina
Yanina Mohr Private Practice, Autonomous City of Buenos Aires, Argentina
Lina Nuñez Center for Medical Education and Clinical Research (CEMIC), Autonomous City of Buenos Aires, Argentina

Keywords:

familial atypical dysplastic mole syndrome (FADMS), melanocitic nevomatosis with dysplastic nevus, dysplastic nevi, Li-Fraumeni like syndrome

Abstract

Atypical dysplastic mole syndrome (ADMS) describe patients with several particular nevi (clinically atypical and histopathologically dysplastic), and high incidence of melanoma. We present a female patient with ADMS in a variant of small elements (“cheeta like”), whose both children are affected with a different phenotype (large elements or classical). There is a large tumoral burden in the patient and her blood relatives, despite this the CDKN2A, BCRA1 and BCRA2 genes are not mutated. It is interpreted as an ADMS overlap with the Li-Fraumeni like syndrome.

Author Biographies

Hugo Néstor Cabrera, University of Buenos Aires, Autonomous City of Buenos Aires, Argentina

Professor Emeritus, School of Medicine

Yanina Mohr, Private Practice, Autonomous City of Buenos Aires, Argentina

Medical Specialist in Dermatology

Lina Nuñez, Center for Medical Education and Clinical Research (CEMIC), Autonomous City of Buenos Aires, Argentina

Medical Geneticist

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