Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation

Hepatic vascular lesions are not an uncommon finding in children, and represent the most common benign liver tumours to present in infancy. We present a case of a complex vascular malformation with an intrahepatic component suggestive of a venous/arteriovenous malformation as well as a large extrahepatic lesion. The extrahepatic mass was present in both sub- and supra-diaphragmatic locations ,with features of a congenital haemangioma. In view of the clinical presentation and different imaging appearances, this case was felt to be interesting in its radiological workup, management and eventual unusual pathology.

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Immunohistochemical expression of endocan, as a marker of assessment of angiogenic potential in benign vascular lesions (hemangioma, lymphangioma and lobular capillary hemangioma) of head and neck region

Journal of Baghdad College of Dentistry ◽

10.26477/jbcd.v30i4.2556 ◽

2018 ◽

Vol 30 (4) ◽

pp. 61-64

Author(s):

Jawaher M Tater ◽

Bashar H Abdullah ◽

Wisam A Hussain

Keyword(s):

Endothelial Cell ◽

Head And Neck ◽

Vascular Malformation ◽

Neck Region ◽

Pyogenic Granuloma ◽

Capillary Hemangioma ◽

Vascular Lesions ◽

Lobular Capillary Hemangioma ◽

Head And Neck Region ◽

Angiogenic Potential

BACKGROUND: Vascular tumors are a heterogeneous group of diseases with biological behavior ranging from a hamartomatous growth to frank malignant. The pathophysiology of lymphangioma, vascular malformation and hemangioma is interconnected, blood vessels known to be the site of origin of hamartomas, venous malformations and some neoplasms as benign, tumor-like growth of vessels (hemangiomas). Angiogenesis is the process of formation of new blood vessels from an existing structure. Aims of study Assessment of angiogenic potential in benign vascular lesions (hemangioma, lymphangioma and lobular capillary hemangioma) of head and neck region. Materials and Methods: Twenty-two formalin-fixed paraffin-embedded tissue blocks of Hemangioma/vascular malformation, thirty of lobular capillary hemangioma and another twenty of lymphangioma to be stained with Endothelial cell-Specific Molecule-1 (ESM-1) monoclonal antibody. Results: Microvessel density expressed by Endothelial cell-Specific Molecule-1 (ESM-1) immunomarker was found in all cases with mean density of (37.44±23.16) for lobular capillary hemangioma and (25.02±13.89) for hemangioma and (6.34±3.52) for lymphangioma. According to post hoc test ESM-1 marker expression showed a high significant difference between (hemangioma and lymphangioma=0.001), (lymphangioma, pyogenic granuloma=0.000), and it was significantly different between (hemangioma, pyogenic granuloma=0.011) Conclusions: The obvious capillary growth in lobular capillary hemangioma revealed that lobular capillary hemangioma showed the highest activity of angiogenic potential in comparison to hemangioma and lymphangioma.

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Hemangioma Versus Vascular Malformation: Presence of Nerve Bundle Is a Diagnostic Clue for Vascular Malformation

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-772-hvvmpo ◽

2005 ◽

Vol 129 (6) ◽

pp. 772-775 ◽

Cited By ~ 2

Author(s):

Patrick A. Adegboyega ◽

Suimin Qiu

Keyword(s):

Vascular Malformation ◽

Detection Method ◽

Vascular Malformations ◽

Vascular Lesions ◽

Stained Glass ◽

Nerve Bundle ◽

Glass Slides ◽

Nerve Bundles ◽

Diagnostic Clue ◽

Hematoxylin Eosin

Abstract Context.—Arteriovenous vascular malformations and hemangiomas are benign vascular lesions that are difficult to distinguish from one another clinically. Also, they may be confused with each other at histopathology. Therefore, histochemical stains for the presence of an artery are frequently used to distinguish between the two. Objective.—Because it is clinically relevant to differentiate between arteriovenous vascular malformations and hemangiomas, this study was carried out to explore additional diagnostic clues that may help in the diagnosis and differentiation of these lesions. Design.—A total of 167 cases of benign extracranial vascular lesions were retrieved from the anatomic pathology file of our institution. These comprised 66 cases diagnosed as arteriovenous vascular malformations and 101 cases previously diagnosed as hemangiomas. The hematoxylin-eosin–stained glass slides were reviewed, Movat pentichrome histochemical stain was used to identify elastic vessels (arteries/arterioles), and S100 immunostain was used to identify nerves within these vascular lesions. For immunohistochemistry, the avidin-biotin detection method was used. Results.—With Movat stain, the presence of thick-walled elastic arteries was detected in 12 of the 101 cases previously diagnosed as hemangiomas, and these cases were therefore reclassified as vascular malformations. Using the same criterion, 2 of the 66 cases originally diagnosed as arteriovenous vascular malformations were reclassified as hemangiomas because they lacked arterial structures. Thus, with this strict criterion, we ended up with 91 cases of hemangiomas and 76 cases of arteriovenous vascular malformations. Intralesional nerves were identified in 91% (69/76) of cases of arteriovenous vascular malformations, including all the 12 arteriovenous vascular malformations previously diagnosed as hemangiomas. In contrast, no intralesional nerve was detected in any of the 91 hemangiomas. Conclusions.—These results show that nerve bundles are consistently present in vascular malformations and absent in hemangiomas and so can be used as a diagnostic clue to differentiate between these lesions. Also, in addition to describing a previously unreported component of vascular malformations, these data further confirm the hamartomatous nature of these lesions.

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Glut 1, S-100, and Nerve Bundle Study in Vascular Anomalies

Indian Journal of Surgery ◽

10.1007/s12262-021-02972-2 ◽

2021 ◽

Author(s):

Ajay K. Khanna ◽

Akhilesh Kumar ◽

Soumya Khanna ◽

Amrita Kar ◽

Puneet Kumar ◽

...

Keyword(s):

Vascular Malformation ◽

Vascular Malformations ◽

Vascular Anomalies ◽

Vascular Lesions ◽

Histological Evaluation ◽

Vascular Tumors ◽

Nerve Bundle ◽

Glut 1 ◽

S 100 ◽

Hematoxylin And Eosin

Abstract Vascular anomalies grouped into vascular tumors (hemangioma) (HI) and vascular malformation (VM) are benign vascular lesions that are difficult to distinguish from one another clinically and often confused with each other at histopathology. This confusing terminology leads to improper diagnosis, illogical treatment, and misdirected research. This study aimed to study GLUT 1, S-100, and nerve bundle to differentiate hemangioma and vascular malformation. Thirty two cases of vascular lesions (26 vascular malformations and 6 hemangiomas) were taken into the study. For histological evaluation and immunohistochemistry (IHC), samples of vascular lesions were collected in formalin. All the hematoxylin and eosin-stained slides were evaluated under light microscope for histology and nerve bundles. Immunohistochemical staining was performed by streptavidin–biotin method for GLUT 1 and S-100. GLUT 1 was positive in all 6 cases of hemangiomas (100%) and only in 1 case of vascular malformation. Nerve bundle was present in 24 cases of vascular malformation (92.3%) out of 26 cases but not in any cases of hemangioma and S-100 was found positive in all vascular malformation cases (100%) but not in hemangioma. So GLUT 1 expression, S-100, and presence of nerve bundle in vascular lesions can help to differentiate hemangioma and vascular malformation.

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Prevalence of oral hemangioma, vascular malformation and varix in a Brazilian population

Brazilian Oral Research ◽

10.1590/s1806-83242007000100007 ◽

2007 ◽

Vol 21 (1) ◽

pp. 40-45 ◽

Cited By ~ 32

Author(s):

Priscila Henriques Corrêa ◽

Lara Cristina Caldeira Nunes ◽

Aline Cristina Batista Rodrigues Johann ◽

Maria Cássia Ferreira de Aguiar ◽

Ricardo Santiago Gomez ◽

...

Keyword(s):

Oral Cavity ◽

Head And Neck ◽

Clinical Data ◽

Vascular Malformation ◽

Descriptive Analysis ◽

Ventral Surface ◽

Brazilian Population ◽

Vascular Lesions ◽

Clinical Forms ◽

School Of Dentistry

Hemangioma, vascular malformation and varix are benign vascular lesions, common in the head and neck regions. Studies about the prevalence of these lesions in the oral cavity are scarce. The aim of this study was to estimate the prevalence of and to obtain clinical data on oral hemangioma, vascular malformation and varix in a Brazilian population. Clinical data on those lesions were retrieved from the clinical forms from the files of the Oral Diagnosis Service, School of Dentistry, Federal University of Minas Gerais, Brazil, from 1992 to 2002. Descriptive analysis was performed. A total of 2,419 clinical forms in the 10-year period were evaluated, of which 154 (6.4%) cases were categorized as oral hemangioma, oral vascular malformation or oral varix. Oral varix was the most frequent lesion (65.6%). Females had more oral hemangioma and oral varix than males. Oral vascular malformation and oral varix were more prevalent in the 7th and 6th decades, respectively. Oral hemangioma and oral varix were more prevalent in the ventral surface of the tongue and oral vascular malformation, in the lips. Oral hemangioma was treated with sclerotherapy (54.5%), and vascular malformation was managed with sclerotherapy and surgery (19.4% each). The data of this study suggests that benign vascular lesions are unusual alterations on the oral mucosa and jaws.

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Venous-predominant parenchymal arteriovenous malformation: a rare subtype with a venous drainage pattern mimicking developmental venous anomaly

Journal of Neurosurgery ◽

10.3171/jns/2008/108/6/1142 ◽

2008 ◽

Vol 108 (6) ◽

pp. 1142-1147 ◽

Cited By ~ 33

Author(s):

So-Hyang Im ◽

Moon Hee Han ◽

Bae Ju Kwon ◽

Jung Yong Ahn ◽

Cheolkyu Jung ◽

...

Keyword(s):

Arteriovenous Malformation ◽

Vascular Malformation ◽

Vascular Malformations ◽

Gamma Knife Radiosurgery ◽

Vascular Lesions ◽

Arterial Phase ◽

Developmental Venous Anomaly ◽

Venous Anomaly ◽

Arteriovenous Shunts

Object Considerable confusion exists in the literature regarding the classification of cerebrovascular malformations and their clinical significance. One example is provided by the atypical developmental venous anomaly (DVA) with arteriovenous shunt, because it remains controversial whether these lesions should be classified as DVAs or as atypical cases of other subtypes of cerebrovascular malformations. The purpose of this study was to clarify the classification of these challenging vascular lesions in an effort to suggest an appropriate diagnosis and management strategy. Methods The authors present a series of 15 patients with intracranial vascular malformations that were angiographically classified as atypical DVAs with arteriovenous shunts. This type of vascular malformation shows a fine arterial blush without a distinct nidus and early filling of dilated medullary veins that drain these arterial components during the arterial phase on angiography. Those prominent medullary veins converge toward an enlarged main draining vein, which together form the caput medusae appearance of a typical DVA. Results Based on clinical, angiographic, surgical, and histological findings, the authors propose classifying these vascular malformations as a subtype of an arteriovenous malformation (AVM), rather than as a variant of DVA or as a combined vascular malformation. Conclusions Correct recognition of this AVM subtype is required for its proper management, and its clinical behavior appears to follow that of a typical AVM. Gamma Knife radiosurgery appears to be a good alternative to resection, although long-term follow-up results require verification.

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Lobular capillary haemangioma arising from a vascular malformation

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20211711 ◽

2021 ◽

Vol 7 (3) ◽

pp. 461

Author(s):

K. V. Udhayini ◽

Shreya Srinivasan ◽

Celestin Geo Danny ◽

D. Manoharan

Keyword(s):

Blood Flow ◽

Vascular Malformation ◽

Pyogenic Granuloma ◽

Vascular Tumor ◽

Vascular Lesions ◽

Port Wine ◽

Port Wine Stains ◽

Capillary Haemangioma ◽

Mucous Membranes ◽

Granuloma Pyogenicum

<p class="abstract">Lobular capillary haemangioma also known as granuloma pyogenicum or pyogenic granuloma, refers to a common, acquired, benign, vascular tumor that arises in tissues such as the skin and mucous membranes. The occasional eruption of a lobular capillary haemangioma from vascular lesions like haemangiomas or existing port-wine stains suggests abnormalities in blood flow.</p>

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Iris Vascular Malformation with 360-Degree Iridocorneal Angle Affectation

Case Reports in Ophthalmological Medicine ◽

10.1155/2020/5913636 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Cristina Calleja-García ◽

Jorge Suárez-Baraza ◽

Enrique Mencía-Gutiérrez

Keyword(s):

Differential Diagnosis ◽

Vascular Malformation ◽

Vascular Lesion ◽

Vascular Lesions ◽

Vascular Tumors ◽

Iris Melanoma ◽

Iridocorneal Angle ◽

Racemose Hemangioma ◽

Recurrent Hyphema

Vascular iris lesions are rare and can sometimes be associated to systemic vascular lesions. They usually cause spontaneous recurrent hyphema. The differential diagnosis should be considered primarily with iris rubeosis and with highly vascular tumors as iris melanoma. Generally, vascular lesions of hemangioma type are located in the iris without extension to iridocorneal angle. We present a case of a 77-year-old male with an iris vascular lesion suggestive of racemose hemangioma, who is asymptomatic, and with 360-degree iridocorneal angle affectation showing no lesions at any other location.

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Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

Frontiers in Pediatrics ◽

10.3389/fped.2021.730393 ◽

2021 ◽

Vol 9 ◽

Author(s):

Andrea Diociaiuti ◽

Guglielmo Paolantonio ◽

Mario Zama ◽

Rita Alaggio ◽

Claudia Carnevale ◽

...

Keyword(s):

Vascular Malformation ◽

Early Recognition ◽

Vascular Malformations ◽

Clinical Signs ◽

Vascular Anomalies ◽

Vascular Lesions ◽

Vascular Tumors ◽

Capillary Malformation ◽

Wide Range ◽

Vascular Birthmarks

Vascular birthmarks are common in neonates (prevalence: 20–30%) and mostly incidental findings sometimes with spontaneous regression (salmon patch and nevus simplex). Capillary malformations are found in about 1% and infantile hemangiomas are found in 4% of mature newborns. Vascular malformations are classified according to their most prominent vessel type. The term “capillary malformation” (port wine stain) includes a wide range of vascular lesions with different characteristics; they may be isolated or part of specific syndromic conditions. Part of the infantile hemangiomas and of the vascular malformations may require treatment for functional or cosmetic reasons, and in rare cases, investigations are also necessary as they represent a clue for the diagnosis of complex vascular malformation or tumors associated with extracutaneous abnormalities. Complex vascular malformations are mostly mosaicism due to early somatic mutations. Genetic advances have led to identify the main pathogenic pathways involved in this disease group. Diffuse capillary malformation with overgrowth, Klippel–Trenaunay syndrome, CLAPO syndrome, CLOVES syndrome, and megalencephaly-capillary malformation belong to the PIK3CA-related overgrowth. Capillary malformation–arteriovenous malformation underlies a fast-flow vascular malformation, sometimes manifesting as Parkes–Weber syndrome. Recognition of these different types of capillary vascular stains is sometimes difficult; however, associated findings may orient the clinicians while genetic testing may confirm the diagnosis. Lymphatic malformation frequently manifests as large masses that compress and/or infiltrate the surrounding tissues, representing a neonatal emergency when airways are involved. Infantile hemangiomas may cause functional and/or permanent esthetical damage, depending on their localization (such as periorbital area, lip, nose); large (more than 5 cm) infantile hemangiomas with a segmental distribution can be associated with obstruction or malformations of the underneath organs with complications: PHACE syndrome, LUMBAR/SACRAL syndrome, and beard infantile hemangioma. In our review, we discuss controversies regarding the international classification and emerging concepts in the field of vascular anomalies. Finally, we discuss potential developments of new, non-invasive diagnostic techniques and repurposing of target therapies from oncology. Complex and/or life-threatening vascular tumors and malformations are extremely rare events and they represent a considerable therapeutic challenge. Early recognition of clinical signs suggestive for a specific disease may improve therapeutic outcomes and avoid severe complications.

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