An update on congenital melanocytic nevus syndrome: A case report and literature review
Corresponding Author
Lilaf Abdulmajid
Faculty of Medicine and Health Sciences, University Antwerp, Wilrijk, Belgium
Correspondence
Lilaf Abdulmajid, Antwerp University, Campus Drie Eiken, Universiteitsplein 1, 2610 Wilrijk, Belgium.
Email: [email protected]
Search for more papers by this authorFrancesca Maria Bosisio
Department of Pathology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorHilde Brems
Department of Human Genetics, University Hospitals Leuven, UZ/KU Leuven, Leuven, Belgium
Search for more papers by this authorGreet De Vlieger
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
Search for more papers by this authorMarjan Garmyn
Department of Dermatology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorHeidi Segers
Department of Pediatric Hemato-Oncology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorPhilippe Demaerel
Department of Radiology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorKatarina Segers
Department of Plastic and Reconstructive surgery, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorKatrien Jansen
Department of Development and Regeneration, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorLieven Lagae
Department of Development and Regeneration, Section Pediatric Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorMagali Verheecke
Department of Obstetrics and Gynecology, AZ Turnhout, Turnhout, Belgium
Search for more papers by this authorCorresponding Author
Lilaf Abdulmajid
Faculty of Medicine and Health Sciences, University Antwerp, Wilrijk, Belgium
Correspondence
Lilaf Abdulmajid, Antwerp University, Campus Drie Eiken, Universiteitsplein 1, 2610 Wilrijk, Belgium.
Email: [email protected]
Search for more papers by this authorFrancesca Maria Bosisio
Department of Pathology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorHilde Brems
Department of Human Genetics, University Hospitals Leuven, UZ/KU Leuven, Leuven, Belgium
Search for more papers by this authorGreet De Vlieger
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
Search for more papers by this authorMarjan Garmyn
Department of Dermatology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorHeidi Segers
Department of Pediatric Hemato-Oncology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorPhilippe Demaerel
Department of Radiology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorKatarina Segers
Department of Plastic and Reconstructive surgery, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorKatrien Jansen
Department of Development and Regeneration, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorLieven Lagae
Department of Development and Regeneration, Section Pediatric Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
Search for more papers by this authorMagali Verheecke
Department of Obstetrics and Gynecology, AZ Turnhout, Turnhout, Belgium
Search for more papers by this authorAbstract
Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities and malignant melanoma. It mostly results from a post-zygotic NRAS mutation of neural-derived crest cells, leading to uncontrolled cell growth. Because of the increased knowledge of the genetics underlying CMNS, targeted therapy becomes a promising treatment option. We present a case of CMNS in a newborn. Physical examination at birth showed a giant congenital melanocytic nevus, extending from the occipital to the lower lumbar region. A magnetic resonance imaging scan revealed multiple cerebral and cerebellar parenchymal lesions. Genetic analysis of the cutaneous lesions showed the presence of an NRAS Q61R mutation. The patient was treated with dermabrasion to reduce the color intensity of the nevus. However, this was complicated by recurrent wound infections and laborious wound healing. At the age of 1 year, the patient had an age-appropriate psychomotor development, without neurological deficits.
Open Research
DATA AVAILABILITY STATEMENT
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