Abstract
Though melanocytic nevi are ubiquitous in the general population, they can also be
key cutaneous manifestations of genetic syndromes. We describe genodermatoses associated
with melanocytic nevi and discuss their clinical characteristics, cutaneous manifestations,
underlying genetics, and, if applicable, guidelines for when genetic testing should
be performed. We categorized these genodermatoses based on their association with
congenital nevi, acquired nevi, or nevi whose first appearance is unknown. In many
cases, the distinctive morphology or distribution of melanocytic nevi can be an important
clue that an underlying genetic syndrome is present, allowing both the patient as
well as family members to be screened for the more serious complications of their
genetic disorder and receive education on potential preventative measures. As we continue
to advance our understanding of how various genotypes give rise to the wide spectrum
of phenotypes observed in these genodermatoses, we shall be able to better stratify
risk and tailor our screening methods to clinically manage the heterogeneous manifestations
of genodermatoses among these patients.
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Published online: February 14, 2022
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