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Journal of Pediatric Neurology 2018; 16(05): 347-351
DOI: 10.1055/s-0038-1667110
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Speckled Lentiginous Nevus Syndrome

Simona Marino   *
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Valeria Venti   *
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Flavia La Mendola
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Maria Teresa Garozzo
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Agata Polizzi
3   National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
,
Concetta Pirrone
4   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Francesco Lacarrubba
5   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
5   Dermatology Clinic, University of Catania, Catania, Italy
,
Enrica Quattrocchi
5   Dermatology Clinic, University of Catania, Catania, Italy
,
Carmelo Schepis
6   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
,
Antonio Zanghì
7   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania Italy
,
Elena R. Praticò
8   Unit of Pediatrics, Carpi Hospital, Carpi, Italy
,
Ignacio Pascual-Castroviejo
9   Servicio de Neurología, Hospital Universitario La Paz, Madrid, España
,
Martino Ruggieri
1   Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
› Author Affiliations
Further Information

Publication History

18 January 2018

10 May 2018

Publication Date:
20 August 2018 (online)

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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.

Keywords

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

* The two authors contributed equally to the manuscript.


 

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