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, A. L.; Distefano, Angela; Pasquale, Rocco De; Salpietro, Vincenzo; Micali, Giuseppe; Pavone, Lorenzo

doi:10.1002/ajmg.a.35221

Cited by 63 publications

(86 citation statements)

References 46 publications

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“…The disorder has been taken as an example of allelic twin spotting . It can be associated with vascular brain lesions in the form of mixed vascular naevus syndrome …”

Section: Capillary Naevimentioning

confidence: 99%

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Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of angiokeratoma corporis diffusum. Finally, arguments are presented why the salmon patch ('stork bite', 'naevus simplex') cannot be categorized as a naevus.

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“…The disorder has been taken as an example of allelic twin spotting . It can be associated with vascular brain lesions in the form of mixed vascular naevus syndrome …”

Section: Capillary Naevimentioning

confidence: 99%

“…25 It can be associated with vascular brain lesions in the form of mixed vascular naevus syndrome. [88][89][90]…”

Section: Naevus Vascularis Mixtusmentioning

confidence: 99%

Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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“…Previous reports have described children affected by LCPD with neurological manifestations, including cognitive and motor impairment, epilepsy, and brain abnormalities (e.g., thickening of the temporal cortex, partial agenesis of the corpus callosum, cerebral hemiatrophy) [5,6,14,15].…”

Section: Discussionmentioning

confidence: 99%

Stickler syndrome associated with epilepsy: report of three cases

et al. 2015

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• Stickler syndrome is a genetically heterogeneous collagenopathy characterized by auditory, ocular, musculoskeletal, and orofacial anomalies. What is New: • Involvement of the nervous central system is not a typical feature of Stickler syndrome and the association with epilepsy has not been reported so far. • This report raises the possibility of a potential occurrence of seizures among the clinical manifestations of Stickler syndrome type 1, suggesting a continuous neurological spectrum in some individuals affected by heterozygous mutations of COL2A1.

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“…Mixed vascular nevus is associated with cerebral vascular changes, which should be ruled out with imaging studies [7,8]. By definition, this nevus is not a subtype of phakomatosis pigmentovascularis (concurrence of vascular and pigmented nevi).…”

Section: Discussionmentioning

confidence: 99%

Ulcerative telangiectasia on the face and back of a 6‐year‐old girl with elevated antinuclear antibodies

Drerup

Ehrchen

Metze

et al. 2018

J Deutsche Derma Gesell

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AnamneseEin 6-jähriges Mädchen stellte sich mit lokalisierten Teleangiektasien und hypopigmentierten Arealen im Gesicht und am Rücken vor (Abbildungen 1-3 ). Teilweise zeigten sich darin Ulzerationen. Erstmalig aufgefallen seien diese vor vier Monaten. Der Krankheitsverlauf ging mit starken Schmerzen einher. Bis auf die Hautveränderungen war das Mädchen körperlich gesund und die Familienanamnese war unauffällig. LaborErhöhte antinukleäre Antikörper (ANA) bei 1 : 1 280, Muster: feingesprenkelt, Chromosomen positiv (Normwert < 1 : 80).Abbildung 1 Hypopigmentierte mit Teleangiektasien durchsetzte Macula und hämorrhagisch-seröse Krusten subauriculär und -mandibulär.Abbildung 2 Oberflächliche Ulzeration mit hypopigmentiertem Arealen am Rücken paravertebral.Abbildung 3 Detailaufnahme mit zusätzlich sichtbaren fokalen Hämorrhagien (Pfeil). HautbefundAuf der rechten Wange mit Übergang zum Kinn-Hals-Bereich und dem Ohr zeigt sich ein unregelmäßig konfi guriertes, hypopigmentiertes Areal mit Teleangiektasien. Zusätzlich mit Ulzerationen einhergehende hämorrhagisch-seröse Krusten. Eine weitere umschriebene, morphologisch idente Hautveränderung besteht am Rücken paravertebral rechts.

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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

Cited by 63 publications

References 46 publications

Capillary malformations: a classification using specific names for specific skin disorders

Capillary malformations: a classification using specific names for specific skin disorders

Stickler syndrome associated with epilepsy: report of three cases

Ulcerative telangiectasia on the face and back of a 6‐year‐old girl with elevated antinuclear antibodies

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