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Journal of Pediatric Neurology 2018; 16(05): 282-287
DOI: 10.1055/s-0038-1667150
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Mixed Vascular Nevus Syndrome

Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Agata Polizzi
2   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Chiara Maria Battaglini
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
3   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Stefania Tomarchio
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Flavia La Mendola
1   Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Domenico A. Restivo
4   Neurologic Unit, Department of Internal Medicine, Nuovo “Garibaldi” Hospital, Catania, Italy
,
Pietro Milone
5   Department of Medical and Surgical Sciences and Advanced Technologies “G.F. Ingrassia,” Section of Radiology, University of Catania, Catania, Italy
,
Concetta Pirrone
6   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Elena Commodari
6   Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy
,
Antonio Zanghì
7   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Carmelo Schepis
8   Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
,
Francesco Lacarrubba
9   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
9   Dermatology Clinic, University of Catania, Catania, Italy
› Author Affiliations
Further Information

Publication History

29 December 2017

30 April 2018

Publication Date:
20 August 2018 (online)

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Abstract

Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as a purely cutaneous trait or as a hallmark of a neurocutaneous phenotype, the so-called mixed vascular nevus syndrome. The latter is characterized by the combination of paired vascular twin nevi and brain abnormalities of the Dyke–Davidoff–Masson type, consisting of crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels, and homolateral hypertrophy of the skull and sinuses (hyperpneumatization) with contralateral hemispheric hypertrophy. In other cases, the paired vascular twin nevi and brain malformations of the Dyke–Davidoff–Masson type occur in association with systemic abnormalities consisting of facial asymmetry, skeletal anomalies, and disorders of autoimmunity. In 2014, Happle proposed to name the syndrome with the eponym Ruggieri–Leech's syndrome after the first two authors who reported (independently) this phenotype in different patients.

Pathogenically, this complex phenotype suggests that embryonic pairing and somatic recombination of recessive (didymotic) alleles controlling the balance between constriction (i.e., nevus anemicus) and dilatation (i.e., nevus telangiectaticus) of blood vessels could be the primary event causing the phenomena of cutaneous and brain vascular twin spotting and the paired phenomena of skull hyperpneumatization versus hypertrophy and brain megalencephaly/colpocephaly versus cortical dysplasia.

Keywords

mixed vascular nevus - nevus vascularis mixtus - mixed vascular nevus syndrome - telangiectatic nevus - nevus anemicus - Dyke–Davidoff–Masson syndrome - MRI - CT - ultrasound - EEG