Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

Giant congenital melanocytic naevi (CMN) are large melanocytic lesions commonly associated with neurologic abnormalities. Patients diagnosed with giant melanocytic naevi are at an increased risk of developing melanoma compared to patients with smaller congenital naevi. If patients develop central ne...

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Bibliographic Details
Published in:JEADV clinical practice 2022-12, Vol.1 (4), p.416-419
Main Authors: Thielmann, Carl M., Kampmeier, Antje, Küchler, Alma, Zenker, Martin, Wieland, Ilse, Matull, Johanna, Krefting, Frederik, Griewank, Klaus, Hadaschik, Eva
Format: Article
Language:English
Subjects:
Case reports
Conflicts of interest
Congenital diseases
giant melanocytic naevus
Intervention
Lasers
Magnetic resonance imaging
Melanoma
Mutation
NRAS
Patients
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Summary:Giant congenital melanocytic naevi (CMN) are large melanocytic lesions commonly associated with neurologic abnormalities. Patients diagnosed with giant melanocytic naevi are at an increased risk of developing melanoma compared to patients with smaller congenital naevi. If patients develop central nervous system (CNS) lesions and exhibit certain characteristic facial features, then the diagnosis of CMN syndrome can be made. We here present the case of a 24‐year‐old female who presented with multiple melanocytic naevi, which had been apparent since birth, and was diagnosed with giant melanocytic naevi caused by NRAS Q61K mosaicism. Both close follow‐up of imaging and clinical study is important so as not to miss cutaneous malignancy and CNS lesions.
ISSN:2768-6566
2768-6566
DOI:10.1002/jvc2.61