John Libbey Eurotext

European Journal of Dermatology


Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy Volume 29, numéro 1, January-February 2019


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1 Department of Dermatology, James Paget University Hospital, Lowestoft Rd, Gorleston-on-Sea, Great Yarmouth NR31 6LA, United Kingdom
2 Department of Dermatology, Medical Center-University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany
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  • Mots-clés : papular nevus spilus, papular nevus spilus syndrome, speckled lentiginous nevus, speckled lentiginous nevus syndrome, RASopathy, mosaicism
  • DOI : 10.1684/ejd.2018.3488
  • Page(s) : 2-5
  • Année de parution : 2019

The co-existence of papular nevus spilus (PNS) and ipsilateral extracutaneous abnormalities involving peripheral nerves of the skin or muscles was originally described as “speckled lentiginous nevus syndrome”. To avoid confusion with macular nevus spilus, the condition was recently re-named “papular nevus spilus syndrome”. In addition to 14 published cases, we identified six new cases via a search of the worldwide literature. New diagnostic criteria are suggested: (1) presence of a PNS; (2) presence of a neurological or skeletal abnormality which is usually ipsilateral to the nevus; and (3) absence of a nevus sebaceus. According to current knowledge, PNS syndrome is a rather rarely occurring, sporadic disorder that can be considered to be part of a spectrum of mosaic RASopathies, which includes isolated PNS, isolated nevus sebaceus, PNS syndrome, Schimmelpenning syndrome, and phacomatosis pigmentokeratotica.