Speckled Lentiginous Nevus Syndrome

Simona Marino, Valeria Venti, Flavia La Mendola, Andrea D. Praticò, Maria Teresa Garozzo, Agata Polizzi, Concetta Pirrone, Francesco Lacarrubba, Giuseppe Micali, Enrica Quattrocchi, Carmelo Schepis, Antonio Zanghì, Elena R. Praticò, Ignacio Pascual-Castroviejo, Martino Ruggieri

Research output: Contribution to journalReview article

Abstract

Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, characterized by a specked lentiginous nevus, appearing as a light brown macule superimposed by multiple melanocytic nevi in the form of macules or papules with uneven distribution, associated with ipsilateral neurological and musculoskeletal abnormalities (i.e., dysesthesia, hyperhidrosis, and musculoskeletal abnormalities) occur. It represents a mosaic phenotype disorder resulting from postzygotic loss of heterozygosity, due to a localized defect in neural crest melanoblasts that originate certain areas of the skin and some ipsilateral neurological and musculoskeletal cells. Environmental and genetic factors may also play a role, but it has not been clarified how these factors behave in this syndrome.

Original languageEnglish
Pages (from-to)347-351
Number of pages5
JournalJournal of Pediatric Neurology
Volume16
Issue number5
DOIs
Publication statusPublished - Jan 1 2018

Keywords

  • dysesthesia
  • hyperhidrosis
  • loss of heterozygosity
  • neurocutaneous disorder
  • speckled lentiginous nevus

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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  • Cite this

    Marino, S., Venti, V., Mendola, F. L., Praticò, A. D., Garozzo, M. T., Polizzi, A., Pirrone, C., Lacarrubba, F., Micali, G., Quattrocchi, E., Schepis, C., Zanghì, A., Praticò, E. R., Pascual-Castroviejo, I., & Ruggieri, M. (2018). Speckled Lentiginous Nevus Syndrome. Journal of Pediatric Neurology, 16(5), 347-351. https://doi.org/10.1055/s-0038-1667110