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Epidermal, sebaceous, and melanocytic nevoid proliferations are spectrums of mosaic RASopathies

Su Luo1, Hensin Tsao2

  • 1Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts, USA.

The Journal of Investigative Dermatology
|September 16, 2014
PubMed

Insights

Nevoid skin growths like epidermal nevi and nevus sebaceous often arise from somatic mosaicism. New research suggests pigmented melanocytic nevi may also share these genetic underpinnings, expanding the concept of mosaic RASopathies.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Nevoid skin proliferations, including keratinocytic epidermal nevi and nevus sebaceous, are increasingly linked to somatic mosaicism.
  • Mutations within the RAF/RAS/MAPK pathway are frequently identified in these conditions, leading to the term "mosaic RASopathy".

Purpose of the Study:

  • To explore the potential for pigmented melanocytic nevi to fit the "mosaic RASopathy" paradigm.
  • To summarize and compare the genotypic profiles of epidermal and melanocytic nevi.

Main Methods:

  • Review of recent studies characterizing nevoid proliferations.
  • Analysis of genotypic data from epidermal and melanocytic nevi.

Main Results:

  • Evidence suggests that certain pigmented melanocytic nevi may also result from somatic mosaicism.
  • Genotypic profiles of melanocytic nevi show analogies to those found in epidermal nevi.

Conclusions:

  • Pigmented melanocytic nevi could potentially be classified under the "mosaic RASopathy" spectrum.
  • Further research into the genetic basis of melanocytic nevi is warranted to confirm these findings.

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