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Article

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.

The British journal of dermatology - 17 Apr 2026

Knöpfel Nicole, Barberan-Martin Sara, Polubothu Satyamaanasa, Sauvadet Aimie, Bryant Dale, Laskar Rezwanuzzaman, Izadi Fereshteh, Lomas Debra, O'Neil Claire, Dyankova-Peeva Daniela, Henderson Robert A, Macrae Frances, Cullup Thomas, Zecchin Davide, Del Valle Torres Ignacio, Kinsler Veronica A

Abstract excerpt

BACKGROUND: Extensive or atypical dermal melanocytosis (EDM) is abnormal macular blue/black skin pigmentation that can be associated with other congenital abnormalities and an increased risk of melanoma. It is probably underdiagnosed due to phenotypic overlap with common transient dermal melanocytosis (so-called 'blue spots'), and is frequently misdiagnosed as congenital melanocytic naevi. The genetic cause has...

Topics

Humans
Female
Male
Mosaicism
Child
Child, Preschool
Infant
Melanosis
Phenotype
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adolescent

GTP-Binding Protein alpha Subunits, Gq-G11

Magnetic Resonance Imaging

Skin Neoplasms

Class I Phosphatidylinositol 3-Kinases

Nevus, Pigmented

Melanoma

Source

Identifiers

PMID: 41308076
DOI: 10.1093/bjd/ljaf481

Genes

HRAS
ACTB
GNA11
GNAQ
PIK3CA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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