Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes
Clinically, our findings highlight the importance of differentiating EDM from common blue spots, and we recommend ophthalmological investigation even in the absence of periocular cutaneous involvement. The association with CNS infarct is unclear, but we suggest clinical neurological features be sought and MRI undertaken if there are concerns. Genetically, these results not only expand the causative genotype of EDM, but also challenge our concept of the Mosaic Disorders currently described with HRAS, ACTB, PIK3CA, and GNA11. Stratification by genotype may help determine patient melanoma risk more accurately in the future. Patient- and variant-specific genetic counselling should be given where there is a potential risk of germline transmission to offspring.
Authors
- Thomas Cullup (ORCID: https://orcid.org/0009-0009-9850-0698)
- Daniela Dyankova-Peeva
- Veronica A. Kinsler (ORCID: https://orcid.org/0000-0001-6256-327X)
- Nicole Knöpfel (ORCID: https://orcid.org/0000-0002-6438-6550)
- Ignacio del Valle (ORCID: https://orcid.org/0000-0003-2595-3652)
- Debra Lomas (ORCID: https://orcid.org/0000-0003-4490-0038)
- Ruhina Shirin Laskar (ORCID: https://orcid.org/0000-0001-6455-094X)
- Satyamaanasa Polubothu (ORCID: https://orcid.org/0000-0001-7195-5670)
- Dale Bryant (ORCID: https://orcid.org/0000-0002-4783-4796)
- Sara Barberan-Martin (ORCID: https://orcid.org/0000-0003-0142-4078)
- Aimie Sauvadet (ORCID: https://orcid.org/0000-0002-8980-1239)
- Davide Zecchin (ORCID: https://orcid.org/0000-0002-4784-0336)
- Fereshteh Izadi
- R Henderson (ORCID: https://orcid.org/0000-0001-6286-5438)
- Catherine M O'Neil
- F Macrae
Institutions
- Great Ormond Street Hospital (GB)
- The Francis Crick Institute (GB)
- Institute of Child Health (IN)
- University College London (GB)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1093/bjd/ljaf481
- Primary Topic
- Cutaneous Melanoma Detection and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research