Mixed vascular nevus syndrome: a report of four new cases and a literature review
| Autor: | Vincenzo Salpietro, Agata Polizzi, Vito Sofia, Serena Strano, Stefano Palmucci, Pietro Milone, Martino Ruggieri, Concetta Pirrone, Carmelo Schepis, Kshitij Mankad, Pietro Valerio Foti, Massimiliano Morano, Giuseppe Belfiore, Emanuele David |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Computerised tomography (CT) Dyke-Davidoff-Masson syndrome EEG Magnetic resonance imaging (MRI) Mixed vascular nevus Mixed vascular nevus syndrome Nevus anemicus Nevus vascularis mixtus Telangiectatic nevus Ultrasound 030105 genetics & heredity 03 medical and health sciences Colpocephaly 0302 clinical medicine Atrophy medicine Nevus Radiology Nuclear Medicine and imaging Megalencephaly business.industry Anatomy Cortical dysplasia medicine.disease Mixed vascular nevus nevus vascularis mixtus mixed vascular nevus syndrome telangiectatic nevus nevus anemicus Dyke-Davidoff-Masson syndrome magnetic resonance imaging (MRI) computerised tomography (CT) ultrasound EEG Hypoplasia Skull medicine.anatomical_structure Original Article business 030217 neurology & neurosurgery |
| Zdroj: | Quantitative imaging in medicine and surgery 6 (2016): 515–524. doi:10.21037/qims.2016.10.09 info:cnr-pdr/source/autori:Ruggieri M.; Polizzi A.; Strano S.; Schepis C.; Morano M.; Belfiore G.; Palmucci S.; Foti P.V.; Pirrone C.; Sofia V.; David E.; Salpietro V.; Mankad K.; Milone P./titolo:Mixed vascular nevus syndrome: A report of four new cases and a literature review/doi:10.21037%2Fqims.2016.10.09/rivista:Quantitative imaging in medicine and surgery (Print)/anno:2016/pagina_da:515/pagina_a:524/intervallo_pagine:515–524/volume:6 |
| DOI: | 10.21037/qims.2016.10.09 |
| Popis: | Background 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 an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i.e., Legg-Calve-Perthes-like disease) and disorders of autoimmunity (i.e., diabetes, thyroiditis). In 2014, Happle proposed to name the syndrome with the eponym Ruggieri-Leech syndrome. 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 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 hyperpneumatisation vs. hypertrophy and brain megalencephaly/colpocephaly vs. cortical dysplasia. This association is likely more frequent than previously thought and should be investigated by means of: (I) brain and spinal cord imaging (combination of CT and MRI studies); (II) skeletal X-ray studies (when dictated by clinical findings); (III) systemic ultrasound studies; (IV) neurophysiologic studies (EEG); (V) psychomotor testing; (VI) and laboratory investigation (including immune-mediated dysfunction). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|