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 journalArticle

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

Fingerprint

Vascular Malformations
Nevus
Blood Vessels
Legg-Calve-Perthes Disease
Skin
Proteus Syndrome
Epidermolytic Hyperkeratosis
Facial Asymmetry
Neurocutaneous Syndromes
Autoimmune Thyroiditis
Hemiplegia
Type 1 Diabetes Mellitus
Skull
Hypertrophy
Electroencephalography
Seizures
Phenotype
Mutation
Liver
Brain

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. / Ruggieri, Martino; Milone, Pietro; Pavone, Piero; Falsaperla, Raffaele; Polizzi, Agata; Caltabiano, Rosario; Fichera, Marco; Gabriele, Anna Lia; Distefano, Angela; De Pasquale, Rocco; Salpietro, Vincenzo; Micali, Giuseppe; Pavone, Lorenzo.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 11, 11.2012, p. 2870-2880.

Research output: Contribution to journalArticle

Ruggieri, M, Milone, P, Pavone, P, Falsaperla, R, Polizzi, A, Caltabiano, R, Fichera, M, Gabriele, AL, Distefano, A, De Pasquale, R, Salpietro, V, Micali, G & Pavone, L 2012, 'Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients', American Journal of Medical Genetics, Part A, vol. 158 A, no. 11, pp. 2870-2880. https://doi.org/10.1002/ajmg.a.35221
Ruggieri, Martino ; Milone, Pietro ; Pavone, Piero ; Falsaperla, Raffaele ; Polizzi, Agata ; Caltabiano, Rosario ; Fichera, Marco ; Gabriele, Anna Lia ; Distefano, Angela ; De Pasquale, Rocco ; Salpietro, Vincenzo ; Micali, Giuseppe ; Pavone, Lorenzo. / 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. 2012 ; Vol. 158 A, No. 11. pp. 2870-2880.
@article{3b19af7a4c89447ea5c460bd6f546fb7,
title = "Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients",
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-Calv{\'e}-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients.",
keywords = "Brain malformation, Dyke-Davidoff-Masson syndrome, Nevus anemicus, Phacomatosis, Telangiectatic nevus, Twin spotting, Vascular twin nevi",
author = "Martino Ruggieri and Pietro Milone and Piero Pavone and Raffaele Falsaperla and Agata Polizzi and Rosario Caltabiano and Marco Fichera and Gabriele, {Anna Lia} and Angela Distefano and {De Pasquale}, Rocco and Vincenzo Salpietro and Giuseppe Micali and Lorenzo Pavone",
year = "2012",
month = "11",
doi = "10.1002/ajmg.a.35221",
language = "English",
volume = "158 A",
pages = "2870--2880",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "11",

}

TY - JOUR

T1 - Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

AU - Ruggieri, Martino

AU - Milone, Pietro

AU - Pavone, Piero

AU - Falsaperla, Raffaele

AU - Polizzi, Agata

AU - Caltabiano, Rosario

AU - Fichera, Marco

AU - Gabriele, Anna Lia

AU - Distefano, Angela

AU - De Pasquale, Rocco

AU - Salpietro, Vincenzo

AU - Micali, Giuseppe

AU - Pavone, Lorenzo

PY - 2012/11

Y1 - 2012/11

N2 - 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.

AB - 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.

KW - Brain malformation

KW - Dyke-Davidoff-Masson syndrome

KW - Nevus anemicus

KW - Phacomatosis

KW - Telangiectatic nevus

KW - Twin spotting

KW - Vascular twin nevi

UR - http://www.scopus.com/inward/record.url?scp=84867813054&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867813054&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.35221

DO - 10.1002/ajmg.a.35221

M3 - Article

C2 - 22991195

AN - SCOPUS:84867813054

VL - 158 A

SP - 2870

EP - 2880

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -