Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy

Torchia, Daniele; Happle, Rudolf

doi:10.1684/ejd.2018.3488

Cited by 11 publications

(1 citation statement)

References 33 publications

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“…PNS syndrome is another syndrome within the spectrum of mosaic RASopathies as PPK. The main difference is the absence of a nevus sebaceous 11 . Phacomatosis spilorosea (PS; formerly called phacomatosis pigmentovascularis type III) is another rare condition characterized by the combination of segmental MNS and nevus roseus (a capillary malformation) 12 .…”

Section: Discussionmentioning

confidence: 99%

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Zhang,

Xu,

Deng

2023

Clinical Genetics

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Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next‐generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.

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Section: Discussionmentioning

confidence: 99%

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Zhang,

Xu,

Deng

2023

Clinical Genetics

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Benign Melanocytic Proliferations and Melanocytic Naevi

Stefanaki,

Sgouros,

Stratigos

2024

Rook's Textbook of Dermatology

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Benign cutaneous melanocytic proliferations are by far the most common neoplasms in humans. Although benign, they often concern the patient due to aesthetic reasons or their association with other medical conditions. For dermatologists, melanocytic naevi are generally considered risk factors and occasionally simulants of melanoma, posing significant diagnostic and management issues in clinical practice. This chapter describes in a comprehensive way the spectrum of benign melanocytic lesions, their divergent clinical presentation and dermoscopic features, the underlying pathogenetic pathways, their histological features, their association with other diseases – particularly melanoma – and their current management.

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Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway

Carli¹,

Resta

Ferrero

et al. 2022

American J of Med Genetics Pt C

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Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic pathogenic variants of the genes belonging the RAt Sarcoma Mitogenactivated protein kinase (RAS/MAPK) pathway causing its hyperactivation. Here, we review the clinical and molecular characteristics of this heterogeneous group of diseases, including the possibilities of molecular diagnosis and new therapeutic perspectives.

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Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy

Cited by 11 publications

References 33 publications

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Benign Melanocytic Proliferations and Melanocytic Naevi

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway

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