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Journal of Pediatric Neurology 2018; 16(05): 305-312
DOI: 10.1055/s-0038-1667153
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Phacomatosis Pigmentovascularis

Serena Strano
1   Unit of Rare Diseases of the 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 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
,
Agata Polizzi
3   Institute of Neurological Sciences, National Research Council, Catania, Italy
,
Maria Teresa Garozzo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Concetta Pirrone
4   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Antonio Zanghì
5   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Carmelo Schepis
6   Unit of Dermatology, Oasi Research Institute - IRCCS, Troina, Enna, Italy
,
Francesco Lacarrubba
7   Dermatology Clinic, University of Catania, Catania, Italy
,
Franco Dinotta
7   Dermatology Clinic, University of Catania, Catania, Italy
,
Stefania Salafia
8   Unit of Pediatrics, Lentini Hospital, Lentini, Italy
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Giuseppe Micali
7   Dermatology Clinic, University of Catania, Catania, Italy
› Author Affiliations
Further Information

Publication History

12 February 2018

20 May 2018

Publication Date:
20 August 2018 (online)

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Abstract

The coexistence of a widespread vascular nevus and an extensive pigmentary nevus is defined as “phacomatosis pigmentovascularis” (PPV). More than 250 (sporadic) cases of PPV have been so far reported, mainly in Asian or Asian-related populations: mutations in genes related to angiogenic pathways (RAS, MAPK, mTOR, PI3K/AKT, and GNAQ) have been recently identified as the causes of this complex phenotype. In many cases, mutations in two different genes may coexist, representing the classical example of “twin spotting” phenomenon. PPV is usually associated with several extracutaneous anomalies including ocular manifestations (melanosis bulbi, glaucoma, iris mammillations, megalocornea, buphthalmos, strabismus, and hyperpigmentation of the conjunctiva, sclera, episclera, iris, trabecular meshwork, and choroid) and musculoskeletal alterations (limb hypertrophy, Klippel–Trenaunay type abnormalities, hemifacial hypertrophy, hemicorporal hypertrophy, macrocephaly, microcephaly, and scoliosis). Central nervous system anomalies have been reported in most of the patients and include seizure, cognitive delay, cerebral atrophy, hydrocephalus, sensorineural deafness, and intracranial hypertension, as well as migraine, pseudotumor cerebri, and intracerebral vascular malformations. More rarely, PPV has been associated with structural and/or vascular renal anomalies, hepatosplenomegaly, pyogenic granuloma, cavernous hemangioma, portal hypertension, umbilical hernia, hypoplasia of leg veins, and hypo- or hyperactivity of the immune system.

Keywords

phacomatosis - phakomatosis - pigmentovascularis - muscoloskeletal alterations - central nervous system anomalies - GNAQ - AKT - mTOR - twin spotting