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Article

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Pigment cell & melanoma research - 1 May 2018

Etchevers Heather C, Rose Christian, Kahle Birgit, Vorbringer Helmuth, Fina Frédéric, Heux Pauline, Berger Irina, Schwarz Benjamin, Zaffran Stéphane, Macagno Nicolas, Krengel Sven

Abstract excerpt

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt...

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Aged
GNA11 gene
GNAQ gene
HRAS gene
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nevus, Pigmented

Proto-Oncogene Proteins B-raf

Vascular Malformations

Source

Identifiers

PMID: 29316280
DOI: 10.1111/pcmr.12685

Genes

BRAF
GNA11
GNAQ
HRAS
NRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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