http://www.cnr.it/ontology/cnr/individuo/prodotto/ID261250

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. (Articolo in rivista)

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Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. (Articolo in rivista) (literal)

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Martino Ruggieri1,2,* Pietro Milone3, Piero Pavone4, Raffaele Falsaperla4, Agata Polizzi5, Rosario Caltabiano6, Marco Fichera7,8, Anna Lia Gabriele9, Angela Distefano10, Rocco De Pasquale1, Vincenzo Salpietro12, Giuseppe Micali13, Lorenzo Pavone3 (2012)
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
in American journal of medical genetics. Part A; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
(literal)

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Martino Ruggieri1,2,* Pietro Milone3, Piero Pavone4, Raffaele Falsaperla4, Agata Polizzi5, Rosario Caltabiano6, Marco Fichera7,8, Anna Lia Gabriele9, Angela Distefano10, Rocco De Pasquale1, Vincenzo Salpietro12, Giuseppe Micali13, Lorenzo Pavone3 (literal)

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1Chair of Pediatrics, Department of Educational Sciences, University of Catania, Catania, Italy; 2Unit of Clinical Neurosurgery, University of Catania, Catania, Italy; 3Institute of Radiology, University of Catania, Catania, Italy; 4Unit of Pediatrics, University Hospital ''Vittorio Emanuele'', Catania, Italy; 5National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; 6Department ''G.F. Ingrassia'', Section of Anatomic Pathology, University of Catania, Catania, Italy; 7Laboratories of Diagnostic and Molecular Genetics, IRCCS Oasi Maria Santissima, Troina, Italy; 8Chair of Medical Genetics, Regional Centre for the Diagnosis and Therapy of Genetic Diseases, University of Catania, Catania, Italy; 9Unit of Molecular Genetics, Institutes for Mediterranean Agriculture and Forest Systems (ISAFOM), National Research Council (CNR), Rende (CS), Italy; 10Unit of Nuclear Medicine, Institute of Neurological Science, National Research Council, Catania, Italy; 11Institute of Dermatology, University of Catania, Catania, Italy; 12Unit of Genetics and Pediatric Immunology, Department of Pediatrics, University of Messina, Italy; 13Chair of Dermatology, Institute of Dermatology, University of Catania, Catania, Italy (literal)

Titolo

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. (literal)

Abstract

The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calvé-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients. (literal)

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