Mixed vascular nevus syndrome: a report of four new cases and a literature review

Abstract

Methods: Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us.Results: The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy (n=4); hyperpneumatisation of the sinuses (n=2); hypoplastic brain vessels (n=4); colpocephaly and malformation of cortical development (n=2). Follow-up data on our previous 2 cases revealed that the vascular abnormalities in the skin and nervous system were stable over years without neurological progression or deterioration.Conclusions: Pathogenically, this complex phenotype suggests that embryonic pairing and somatic

Megalencephaly Capillary Malformation Syndrome

“…Pigmentary abnormalities (hyper-or hypopigmentation, following the Blaschko lines) epidermal nevus, and deep plantar and palmar creases have been observed in some patients, 43 but with a lower incidence in comparison to other neurocutaneous disorders. [44][45][46][47][48][49][50][51][52][53][54][55][56][57][58] Hyperextensible joints, diastasis recti, umbilical hernia, and inguinal hernia are additional findings suggesting a connective tissue component to the condition.…”

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

“…Given that genetic transmission or chromosomal abnormality does not exist, several assumptions can be made. As in Cutis Tricolor and other mosaic neurocutaneous disorders and vascular malformation syndromes, [67][68][69][70][71][72][73][74][75][76][77][78][79][80] the so-called Happle hypothesis of a somatic mosaicism could explain the genesis of this syndrome, such as other hamartomatous syndromes: it states that the origin of these disorders is the survival of a lethal mutation in a mosaic state (postzygotic mutation). In favor of Happle theory could be the specific linear pattern of distribution of skin lesions with sharp midline delineation and marked clinical variability of cutaneous and tissue involvement.…”

Speckled Lentiginous Nevus Syndrome

“…In phacomatosis pigmentovascularis and other mosaic vascular malformation syndrome, as well in speckled lentiginous nevus syndrome, dermatological abnormalities frequently look disposed along "Blaschko's lines" (the integumental differentiation lines traced by the skin cells migrating during embryogenesis). [9][10][11][12][13][14][15][16][17] Other authors have confusingly and interchangeably used the terms "speckled lentiginous nevus," "zoosteriform lentiginous nevus," and "partial unilateral lentiginosis." 8,18 Incidence and Prevalence Speckled lentiginous nevus syndrome is a very rare disease, with eight cases (6 men, 2 woman) so far reported in literature.…”