‘McCune–Albright-like’ syndrome associated with a post-zygotic <i>KRAS</i> variant
Mosaic disorders affecting pigmentation represent a clinically and genetically heterogeneous group that remains incompletely understood at the molecular level. This report describes a patient presenting with segmental macular pigmentation and bone fibromas associated with a post-zygotic KRAS variant. Our findings expand the known molecular spectrum of segmental café-au-lait macules and have direct implications for genetic counselling and patient management.
Authors
- Paul Kuentz (ORCID: https://orcid.org/0000-0003-2814-6303)
- Fanny Morice‐Picard (ORCID: https://orcid.org/0000-0002-4316-916X)
- P. Vabres (ORCID: https://orcid.org/0000-0001-8693-3183)
- Hugo Jourdain (ORCID: https://orcid.org/0000-0001-8035-7517)
- Raul Perret (ORCID: https://orcid.org/0000-0003-2698-0249)
- Walid Lakhal
Institutions
- Université de Bordeaux (FR)
- Université de Bourgogne (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Besançon (FR)
- Methodology and Quality of Life Unit in Oncology (FR)
- Bordeaux Population Health (FR)
- Hôpital Pellegrin (FR)
- CHU Dijon Bourgogne (FR)
- Hôpital Universitaire Dupuytren (FR)
- Université de Limoges (FR)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1093/ced/llaf526
- Primary Topic
- Bone Tumor Diagnosis and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00