Charcot-Marie-Tooth Disease and Multiple Malignant Melanomas: A Case Report

February 2010 | Volume 9 | Issue 2 | Case Report | 164 | Copyright © 2010

Ritu Saini MD, Stephanie Lehrhoff MD, Deborah S. Sarnoff MD


The incidence of malignant melanoma has reached more than 62,000 people this past year alone. Much is unknown about the genetic predisposition of this cancer. The authors present a 62-year-old woman with a history of Charcot-Marie-Tooth disease (CMTD), diagnosed at age five, who has also developed multiple primary cutaneous malignant melanomas since 2003. The patient presented to the authors’ clinic with a pigmented lesion on the left thigh, which was increasing in size and changing color. The patient was diagnosed with malignant melanoma in situ on biopsy. As both CMTD and malignant melanoma are neural crest derived disorders, this may suggest a shared underlying genetic defect. A gene locus of particular interest is 1p36, both previously recognized in the proposed pathogenesis of CMTD and malignant melanoma (MM).

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