Is There an Association Between Hemangioma and Syndromes With Dysmorphic Features?

PEDIATRICS ◽  
1991 ◽  
Vol 88 (6) ◽  
pp. 1257-1267
Author(s):  
A. Jay Burns ◽  
Lawrence C. Kaplan ◽  
John B. Mulliken
Keyword(s):  
Aortic Arch ◽  
Vascular Malformations ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Dysmorphic Features ◽  
Vascular Birthmarks ◽  
Neonatal Tumor ◽  
Nevus Flammeus ◽  
Genitourinary Defects

Most vascular birthmarks can be categorized, based on clinical and cellular criteria, as either (1) a hemangioma, or (2) a malformation, or (3) a macular stain. Macular stains are commonly seen in newborns, and they consist of faint vascular stains of the glabella, eyelids, and nuchal region called "nevus flammeus," "stork bite," "salmon patch," etc. Unfortunately, the term "hemangioma" is frequently applied to all three types of cutaneous vascular lesions. Usually, these disparate vascular anomalies are listed in association with various malformative syndromes and are generically labeled "hemangioma." This study attempts to define accurately the specific vascular anomalies seen in children born with syndromes with dysmorphic features. This review of five standard textbooks of genetics showed that the majority of vascular anomalies reported in syndromic newborns are not hemangiomas. Rather, they are macular stains, and the vast majority of these fade with time. Congenital telangiectasias and other vascular malformations (capillary, lymphatic, venous, arterial, and combinations thereof) also occur in association with dysmorphic syndromes. contrast, hemangioma, the most common neonatal tumor, is seen only incidentally with rare dysmorphic conditions. Specifically, hemangioma was found to occur only in association with midline (sternal, abdominal) clefting, right-sided aortic arch coarctation, and with a constellation of sacral and genitourinary defects.

scholarly journals Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

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.

scholarly journals Cutaneous Vascular Anomalies Associated With Neural Tube Defects: Nomenclature and Pathology Revisited

Neurosurgery ◽  
2011 ◽  
Vol 69 (1) ◽  
pp. 112-118 ◽  
Author(s):  
Todd Maugans ◽  
Rachel M Sheridan ◽  
Denise Adams ◽  
Anita Gupta
Keyword(s):  
International Society ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Vascular Malformations ◽  
Strong Association ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Dermal Sinus ◽  
Cutaneous Lesions ◽  
Glut 1

Abstract BACKGROUND: Lumbosacral cutaneous vascular anomalies associated with neural tube defects are frequently described in the literature as “hemangiomas.” The classification system for pediatric vascular anomalies developed by the International Society for the Study of Vascular Anomalies provides a framework to accurately diagnose these lesions. OBJECTIVE: To apply this classification to vascular cutaneous anomalies overlying myelodysplasias. METHODS: A retrospective analysis of patients with neural tube defects and lumbosacral cutaneous vascular lesions was performed. All eligible patients had detailed histopathologic analysis of skin and spinal cord/placode lesions. Clinical and radiologic features were analyzed. Conventional histology and GLUT-1 immunostaining were performed to differentiate infantile capillary hemangiomas from capillary vascular malformations. RESULTS: Ten cases with cutaneous lesions associated with neural tube defects were reviewed. Five lesions were diagnosed as infantile capillary hemangiomas based upon histology and positive GLUT-1 endothelial reactivity. These lesions had a strong association with dermal sinus tracts. No reoperations were required for residual intraspinal vascular lesions, and overlying cutaneous vascular anomalies involuted with time. The remaining 5 lesions were diagnosed as capillary malformations. These occurred with both open and closed neural tube defects, did not involute, and demonstrated enlargement and darkening due to vascular congestion. CONCLUSION: The International Society for the Study of Vascular Anomalies scheme should be used to describe the cutaneous vascular lesions associated with neural tube defects: infantile capillary hemangiomas and capillary malformations. We advocate that these lesions be described as “vascular anomalies” or “stains” pending accurate diagnosis by clinical, histological, and immunohistochemical evaluations.

COMPRESSION OF THE TRACHEA OR ESOPHAGUS VASCULAR ANOMALIES

PEDIATRICS ◽  
1951 ◽  
Vol 7 (1) ◽  
pp. 69-88
Author(s):  
ROBERT E. GROSS ◽  
EDWARD B.D. NEUHAUSER
Keyword(s):  
Aortic Arch ◽  
Vascular System ◽  
Vascular Malformations ◽  
Pulmonary Ventilation ◽  
Innominate Artery ◽  
Vascular Anomaly ◽  
Vascular Anomalies ◽  
Ligamentum Arteriosum ◽  
Superior Mediastinum ◽  
Clear Idea

Description is given of five different types of anomalies of the great vessels in the superior mediastinum which can produce compression of the esophagus or trachea (or both). These malformations of the vascular system can give rise to difficulties in swallowing and to serious disturbances in pulmonary ventilation. These anomalies include double aortic arch, right aortic arch with a left ligamentum arteriosum, anomalous innominate artery, anomalous left common carotid artery, and an aberrant subclavian artery. The various symptom complexes which can be found with these anomalies are described. Endoscopic visualization of the interior of the esophagus or trachea gives valuable information in some cases. The investigation of these subjects should include fluoroscopic and film studies of the esophagus and trachea by contrast media. Data gathered from such roentgenologic examinations usually give a fairly clear idea of the type of vascular anomaly which is present. It is possible to attack surgically each of these vascular malformations. In general, the esophagus or trachea can be relieved by division of an anomalous vessel or by displacement of an artery in such a manner that it is carried away from the compressed structure. When necessary, these operative procedures can be undertaken in very young babies, even in the presence of a high degree of respiratory obstruction. All the operations have been through a left anterolateral, transpleural approach, under general anesthesia with a closed system. The results of operation in 40 patients are analyzed. It is evident that many vascular anomalies in the thorax which disturb the functions of the esophagus or trachea can now be treated with an excellent chance of relieving the obstructive symptoms.

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

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.

Hemangiomas

1994 ◽  
Vol 15 (7) ◽  
pp. 266-271
Author(s):  
Julie E. Wahrman ◽  
Paul Honig
Keyword(s):  
Vascular Malformations ◽  
Postnatal Growth ◽  
Vascular Lesions ◽  
Cellular Biology ◽  
Clear Understanding ◽  
History Of ◽  
Standardized Terminology ◽  
Long Term Prognosis ◽  
Vascular Birthmarks

The lack of standardized terminology has been a significant obstacle to a clear understanding of vascular lesions. Although the classic hemangioma undergoes involution with time, the term hemangioma has been used generically to include various vascular lesions, such as port-wine stains or venous malformations. Hemangiomas differ significantly from these other vascular lesions with regard to their clinical and histologic characteristics as well as long-term prognosis. In 1982, Mulliken and Glowacki published a classification scheme that simplified the nomenclature of vascular anomalies. It is based on the cellular biology and natural history of these lesions. The authors divide vascular birthmarks into two groups: hemangiomas and vascular malformations. Definitions HEMANGIOMAS Hemangiomas are defined as benign neoplasms composed of proliferative and hyperplastic vascular endothelium. They are dynamic lesions that demonstrate rapid postnatal growth followed by slow involution. Resolution is associated with diminished cellularity and fibrosis. Hemangiomas are subdivided into three types: superficial, deep, and mixed. Superficial hemangiomas, otherwise referred to as capillary or strawberry hemangiomas, lie in the papillary (upper) dermis. Deep lesions, also called cavernous, hypodermal, or subcutaneous hemangiomas, lie in the reticular (lower) dermis, fat, and muscle. Hemangiomas also may be mixed, having both superficial and deep components. Whether capillary hemangiomas differ histologically from cavernous lesions is controversial.

scholarly journals The Association of Extracranial and Intracranial Vascular Malformations in Children

1985 ◽  
Vol 12 (2) ◽  
pp. 139-148 ◽  
Author(s):  
Ignacio Pascual-Castroviejo
Keyword(s):  
Vascular Malformations ◽  
Cerebral Arteries ◽  
Capillary Hemangioma ◽  
Cerebral Vessels ◽  
Vascular Lesions ◽  
Trigeminal Artery ◽  
Angiographic Study ◽  
Cavernous Hemangiomas ◽  
The Face ◽  
Nevus Flammeus

ABSTRACT:This review is an attempt to relate the types of angiomas and other cutaneous vascular lesions appearing in the face with abnormalities in the formation of cerebral vessels including arteries at their origin, veins and venous sinuses, and with other less constant alterations that affect other organs, particularly the heart and cerebellum. After angiographic study of a series of patients exhibiting diverse types of vascular nevi (capillary and cavernous hemangiomas, nevus flammeus, and lymphangiomas), a correlation was established for each type of dermal nevus with a corresponding group of intracranial vascular anomalies. An explanation of these malformations based on the embryological development of the principal cerebral vessels during the 7th and 8th weeks of gestation is offered. Involvement of the facial and scalp dermatome innervated by the first sensory trigeminal branch correlates most consistently with the presence of abnormal cerebral vessels. The capillary hemangioma occurs preferentially in girls and frequently is associated with developmental anomalies of major cerebral arteries characterised by the absence of some adult vessels and the persistence of others that should have disappeared during embryogenesis such as the fetal trigeminal artery. The complete angiographic exploration of the cerebral vessels from their origin in the aortic arch to the phase of intracranial venous evacuation may reveal unexpected important findings, and is recommended for children with majorfacial vascular nevi, even if they are neurologically asymptomatic.

Skin

2019 ◽  
pp. 273-276
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Vascular Malformations ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
New Treatment ◽  
Limb Asymmetry ◽  
Vascular Birthmarks ◽  
Segmental Overgrowth ◽  
Nevus Flammeus ◽  
Klippel Trenaunay Syndrome

This chapter reviews vascular malformations including the common vascular birthmark, nevus flammeus that is usually isolated, fades with time, and is of no clinical significance. The vascular birthmarks associated with complex segmental overgrowth are reviewed including Klippel Trenaunay syndrome, CLOVES, and the PIK3CA associated disorders. These disorders may sometimes not be evident in newborns although macrocephaly, apparent cutis marmorata, and limb asymmetry may suggest these diagnoses early. Cranial imaging and chronologic follow up help to establish the correct diagnosis. PHACES and SACRAL (LUMBAR) syndromes are distinctive but lack a known genetic cause. New treatment options for the PIK3CA disorders are emerging. The clinical case presentation features an infant with megalencephaly–capillary malformation–polymicrogyria syndrome (MCAP).

Vascular and Perivascular Lesions of Skin and Soft Tissues in Children and Adolescents

2012 ◽  
Vol 15 (1_suppl) ◽  
pp. 26-61 ◽  
Author(s):  
Elisabeth Bruder ◽  
Rita Alaggio ◽  
Harry P. W. Kozakewich ◽  
Gernot Jundt ◽  
Louis P. Dehner ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Soft Tissues ◽  
Vascular Malformations ◽  
Classification Systems ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Malignant Neoplasms ◽  
Clinical Expertise ◽  
Full Spectrum ◽  
Specific Diagnosis

Vascular anomalies in children and adolescents are the most common soft tissue lesions and include reactive, malformative, and neoplastic tumefactions, with a full spectrum of benign, intermediate, and malignant neoplasms. These lesions are diagnostically challenging because of morphologic complexity and recent changes in classification systems, some of which are based on clinical features and others on pathologic findings. In recent decades, there have been significant advances in clinical diagnosis, development of new therapies, and a better understanding of the genetic aspects of vascular biology and syndromes that include unusual vascular proliferations. Most vascular lesions in children and adolescents are benign, although the intermediate locally aggressive and intermediate rarely metastasizing neoplasms are important to distinguish from benign and malignant mimics. Morphologic recognition of a vasoproliferative lesion is straightforward in most instances, and conventional morphology remains the cornerstone for a specific diagnosis. However, pathologic examination is enhanced by adjunctive techniques, especially immunohistochemistry to characterize the type of vessels involved. Multifocality may cause some uncertainty regarding the assignment of “benign” or “malignant.” However, increased interest in vascular anomalies, clinical expertise, and imaging technology have contributed greatly to our understanding of these disorders to the extent that in most vascular malformations and in many tumors, a diagnosis is made clinically and biopsy is not required for diagnosis. The importance of close collaboration between the clinical team and the pathologist cannot be overemphasized. For some lesions, a diagnosis is not possible from evaluation of histopathology alone, and in a subset of these, a specific diagnosis may not be possible even after all assembled data have been reviewed. In such instances, a consensus diagnosis in conjunction with clinical colleagues guides therapy. The purpose of this review is to delineate the clinicopathologic features of vascular lesions in children and adolescents with an emphasis on their unique aspects, use of diagnostic adjuncts, and differential diagnosis.

Vascular anomalies of the tympanic membrane

2006 ◽  
Vol 120 (9) ◽  
pp. 796-799
Author(s):  
L O Redaelli de Zinis ◽  
C Galtelli ◽  
M G Barezzani
Keyword(s):  
Tympanic Membrane ◽  
Rare Case ◽  
Vascular Malformations ◽  
Incidental Finding ◽  
Vascular Anomalies ◽  
Vascular Lesions

Benign vascular lesions include various forms whose classification has created some controversies in the literature. The observation of a rare case of vascular bulge of the eardrum in a 57-year-old man prompted us to analyse the essential features of these lesions. This was an incidental finding and the mass was removed by a transcanal approach. The patient is free of disease four years later. Vascular malformations can be differentiated from vascular tumours since they are present at birth, are generally stable, do not involute, and do not necessitate treatment unless symptoms occur.

scholarly journals CT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Alain G. Blum ◽  
Romain Gillet ◽  
Lionel Athlani ◽  
Alexandre Prestat ◽  
Stéphane Zuily ◽  
...  
Keyword(s):  
Doppler Ultrasonography ◽  
Spindle Cell ◽  
State Of The Art ◽  
Vascular Malformations ◽  
Vascular Lesions ◽  
Systemic Diseases ◽  
Contrast Enhanced ◽  
Vascular Compromise ◽  
Exposure To Trauma ◽  
Technical Considerations

AbstractVascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.

Sign in / Sign up

Export Citation Format

Share Document