SynthesisOrphanet journal of rare diseases2022
Neurological signs, symptoms and MRI abnormalities in patients with congenital melanocytic naevi and evaluation of routine MRI-screening: systematic review and meta-analysis.
Synthesis in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 17 citations in OpenAlex.
- A diagnostic approach to neurocutaneous syndromes.Arquivos de neuro-psiquiatria · 2025Review
- Incidence of neurocutaneous melanosis in Japanese pediatric patients with congenital melanocytic nevi.Scientific reports · 2023Article
- Cliniciopathological Spectrum of Skin and Soft Tissue Swellings at a Tertiary Care Hospital of Lahore, Pakistan.Cureus · 2023Article
- SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation.Pediatric dermatologyArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarely death. Adequate information about aetiology and management is therefore crucial. To identify how to monitor patients with CMN, we aimed to estimate the prevalence of neurological involvement in patients with CMN and to summarize what specific neurological signs and symptoms and MRI abnormalities are reported in the medical literature. In addition, we summarized and evaluated the recommendations regarding MRI-screening reported in the medical literature.
methodsThis review was registered in PROSPERO and reported according to the MOOSE checklist. A search was conducted in EMBASE (Ovid), PubMed, and the Cochrane Library. We included studies with 10 or more patients with CMN, reporting on neurological signs and symptoms or CNS MRI. Study selection, data extraction and methodological quality assessment were performed by two independent reviewers. A meta-analysis was used to assess the prevalence of neurological signs and symptoms.
resultsOut of 1287 studies, fourteen studies were eligible for inclusion of which eight were included in the meta-analysis. Neurological signs and symptoms prevalence was 7.04% (CI 95% 4.47-10.93%) in the meta-analysis group and 6.26% (95% CI 3.85-10%) in a subgroup of patients with a CMN > 6 cm, evaluated in seven studies. Neurodevelopmental delay and seizures were the most frequently reported signs and symptoms. CNS melanocytosis and hydrocephalus were the most frequently reported MRI abnormalities. It was not possible to estimate the increased risk of neurological involvement in patients with CMN due to low quality of evidence and clinical heterogeneity.
conclusionStandardization in CMN studies and a multi-centre prospective study are needed to evaluate neurological involvement. Based on current literature, it is not possible to make strong recommendations on routine MRI-screening. For now, every clinical centre should decide on its own policy and weigh the advantages and disadvantages of routine MRI.
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