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DOI: 10.1055/s-0038-1667110
Speckled Lentiginous Nevus Syndrome
Publication History
18 January 2018
10 May 2018
Publication Date:
20 August 2018 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029030/201805/lookinside/thumbnails/10-1055-s-0038-1667110_1800052-1.jpg)
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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