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April 2007

Phenotypic Variation in Familial MelanomaConsequences for Predictive DNA Testing

Arch Dermatol. 2007;143(4):525-526. doi:10.1001/archderm.143.4.525

In this issue of the ARCHIVES, Figl and colleagues1 from Heidelberg, Germany, report a family in which the proband had multiple primary melanomas as well as her mother's sister. During the course of the investigation, the proband's sister was also diagnosed as having melanoma in situ. This familial predisposition is indicative of familial atypical multiple mole melanoma (FAMMM) syndrome, for which the clinical criteria are 2 first-degree relatives with melanoma or 2 cases (even if more distant relatives) if 1 or both have had multiple primary melanomas or 3 or more cases on the same side of the family. The presence of atypical moles is thus irrelevant in respect of the definition of FAMMM, although in most families, individuals with characteristic nevus phenotypes are present.

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