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Pigment Cell Melanoma Res. 2018 May;31(3):437-441. doi: 10.1111/pcmr.12685. Epub 2018 Jan 29.

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

Author information

1
Aix Marseille Univ, INSERM, MMG, Marseille, France.
2
Dermatohistological Laboratory, Lübeck, Germany.
3
Department of Dermatology, University Hospital Lübeck, Lübeck, Germany.
4
Radiological Group Practice, Lübeck, Germany.
5
Department of Pathology, Hôpital de la Timone, APHM, Marseille, France.
6
Institut für Pathologie und Neuropathologie, Klinikum Kassel, Kassel, Germany.
7
INSERM, UMR_S 911, CRO2, Aix Marseille Univ, Marseille, France.
8
Dermatological Group Practice, Lübeck, Germany.

Abstract

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 trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it. Imaging and biopsy showed a large, non-pulsatile venous malformation intermingled with the deep nevus. A low-abundance, heterozygous BRAF c.1799T>A (p.V600E) mutation was present in both gluteal and occipital congenital nevi; additional mutations in NRAS, GNAQ, GNA11, HRAS, or PIK3CA were undetectable. This is the first demonstration of a recurrent BRAF mutation in multiple large congenital nevi from the same individual, confirming that this malformation can have multiple genetic origins. Early constitutive activation of BRAF can therefore cause unusual associations of giant nevi with vascular malformations, indicating that both pigment and endothelial cell physiology may be affected by mosaic RASopathies.

KEYWORDS:

braf; malformation; mosaic; neural crest; venous

PMID:
29316280
DOI:
10.1111/pcmr.12685

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