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

Martino Ruggieri, Pietro Milone, Piero Pavone, Raffaele Falsaperla, Agata Polizzi, Rosario Caltabiano, Marco Fichera, Anna Lia Gabriele, Angela Distefano, Rocco De Pasquale, Vincenzo Salpietro, Giuseppe Micali, Lorenzo Pavone

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)2870-2880
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number11
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Brain malformation
  • Dyke-Davidoff-Masson syndrome
  • Nevus anemicus
  • Phacomatosis
  • Telangiectatic nevus
  • Twin spotting
  • Vascular twin nevi

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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