Open AccessGiant congenital melanocytic naevus caused by NRAS Q61K mosaicism
Author(s) -
Thielmann Carl M.,
Kampmeier Antje,
Küchler Alma,
Zenker Martin,
Wieland Ilse,
Matull Johanna,
Krefting Frederik,
Griewank Klaus,
Hadaschik Eva
Publication year - 2022
Publication title -
jeadv clinical practice
Language(s) - English
Resource type - Journals
ISSN - 2768-6566
DOI - 10.1002/jvc2.61
Subject(s) - congenital melanocytic nevus , nevus , neuroblastoma ras viral oncogene homolog , medicine , dermatology , malignancy , melanoma , melanocytic nevus , pathology , cancer , colorectal cancer , cancer research , kras
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.