Abdulmajid Lilaf, Bosisio Francesca Maria, Brems Hilde, De Vlieger Greet, Garmyn Marjan, Segers Heidi, Demaerel Philippe, Segers Katarina, Jansen Katrien, Lagae Lieven, Verheecke Magali
Faculty of Medicine and Health Sciences, University Antwerp, Wilrijk, Belgium.
Department of Pathology, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
J Cutan Pathol. 2021 Dec;48(12):1497-1503. doi: 10.1111/cup.14097. Epub 2021 Aug 2.
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.
先天性黑素细胞痣综合征（CMNS）是一种罕见疾病，其特征为色素沉着性皮肤病变，通常在出生时即存在，并与神经异常和恶性黑色素瘤风险增加相关。它主要由神经嵴细胞的合子后NRAS突变引起，导致细胞生长失控。由于对CMNS潜在遗传学的认识增加，靶向治疗成为一种有前景的治疗选择。我们报告一例新生儿CMNS病例。出生时体格检查发现一个巨大先天性黑素细胞痣，从枕部延伸至下腰部区域。磁共振成像扫描显示大脑和小脑实质有多个病变。对皮肤病变的基因分析显示存在NRAS Q61R突变。患者接受了磨皮治疗以降低痣的颜色深度。然而，这引发了伤口反复感染和伤口愈合困难的并发症。1岁时，患者的精神运动发育与年龄相符，无神经功能缺损。
