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Cervicofacial vascular anomalies. II. Vascular malformations.

Vascular malformations are the second major category of vascular anomalies. In contrast to vascular tumors, they are present at birth and grow commensurately with the child. Although the molecular mechanisms underlying the formation of these lesions remain unclear, lesions are known to result from abnormal development and morphogenesis. Histologic examination of vascular malformations shows no evidence of cellular proliferation, but rather progressive dilation of abnormal channels. Vascular malformations are designated according to their predominant channel type; they may be capillary, venous, lymphatic, arterial, and combined malformations. Malformations with an arterial component are rheologically fast-flow, whereas capillary, lymphatic, and venous malformations are slow-flow in nature. The morbidity of vascular malformations varies greatly both within and among the clinical subgroups cited above. This article describes the clinical presentation, diagnosis, and management of vascular malformations. The more frequently encountered clinical presentations involving the head and neck are highlighted.

Arteriovenous Malformations↗

Molecular genetics of vascular malformations.

Vascular malformations are localized errors of angiogenic development. Most are cutaneous and are called vascular 'birthmarks'. These anomalies are usually obvious in the newborn, grow commensurately with the child, and gradually expand in adulthood (Mulliken and Glowacki, 1982). Vascular malformations also occur in visceral organs, such as the respiratory and gastrointestinal tract, but are more common in the brain (Mulliken and Young, 1988). These anomalies are composed of tortuous vascular channels of varying size and shape, lined by a continuous endothelium and surrounded by abnormal complement of mural cells. Vascular malformation can be life threatening due to obstruction, bleeding or congestive heart failure. Most anomalies occur sporadically, but there are families exhibiting autosomal dominant inheritance. Genetic studies of such families have resulted in the identification of mutated genes, directly giving proof of their important role in the regulation of angiogenesis.

Arteriovenous Malformations↗

Pericytes may have an important role in the pathogenesis of vascular malformations.

Vascular malformations are a series of congenital developmental abnormalities. The defects in vascular remodeling may contribute to the formation of these unique entities. Pericytes are the component of microvascular system and play a key role in vascular remodeling. It is logical to propose pericytes may play an important role in the pathogenesis of vascular malformations. Target therapies against pericytes probably bring new sight into vascular malformations treatment.

Animals↗

An unusual cause of rectal bleeding and intestinal obstruction in a child with peripheral vascular malformations.

Vascular malformations of the small bowel are rare yet important causes of abdominal pain and rectal bleeding in children. This report describes a 6-year-old girl with a known history of musculoskeletal vascular anomalies who presented with recurrent abdominal pain and rectal bleeding after seemingly minor trauma. A diagnosis of enteric vascular malformation was established, and the patient was treated by a combined laparoscopic and open approach. This case highlights the fact that in the child with known vascular anomalies who presents with sudden gastrointestinal bleeding and intestinal obstruction, the diagnosis of gastrointestinal vascular anomaly should be suspected, and exploratory laparoscopy should be considered. The current management of enteric vascular anomalies is reviewed, and the differences between vascular malformations and hemangiomas are analyzed.

Abdominal Pain↗

Surgical management of brain stem vascular malformations.

Vascular malformations of the brain stem are a histologically heterogenous collection of lesions which most often present with sudden and progressive neurologic deficit related to haemorrhage. Since 1987 the authors have treated eleven cases of brain stem vascular malformation. Seven of the patients were treated with complete surgical extirpation of the haematoma and malformation because of progressive neurologic deficit. Four additional patients made a full neurologic recovery and are being carefully observed for signs suggestive of the need for surgical treatment. Complete surgical excision of brain stem vascular malformations is mandatory for patients with progressive neurologic deficit related to recurrent haemorrhage.

Adult↗

[MR appearance of the spinal canal vascular malformations].

Vascular malformations of the spinal canal are rare and their clinical appearance is not specific. The authors demonstrate material of 6 patients, who have been diagnosed with magnetic resonance imaging (MR). MR studies in all cases showed tortuous foci of very low signal, compatible with pathological vessels. In 2 patients malformations were also visible on MR angiography and confirmed with conventional angiography. Besides, in 2 cases features of secondary spinal cord oedema (thickening and hyper-intensity on T2-weighted images) have been shown. One patient had spinal cord haematoma which was not visible on MR and has been diagnosed with computed tomography (CT). In the authors' opinion MR is an efficient method of diagnosing and evaluating spinal canal vascular malformations and should be the first diagnostic study in these cases.

Adolescent↗

The use of laser and Varioscope in the management of hemangiomas and vascular malformations.

Vascular lesions are common in infants and children and can be grouped into two main classifications: vascular tumors and vascular malformations. Hemangiomas are proliferative lesions characterized by increased endothelial cell turnover. Vascular malformations are congenital abnormalities involving capillaries, veins and/or lymphatics. A multidisciplinary approach regarding diagnosis and treatment of vascular anomalies in children is crucial. Several options are available for the treatment of hemangiomas. Since January 2003, 14 cases of hemangioma located in the cervicofacial region were treated at "La Sapienza" University. Seven patients underwent surgical resection, using Varioscope, and seven laser therapy. The Varioscope is an operating microscope, which is mounted on the head. Specific advantages convinced the authors to use the Varioscope initially. Autofocus, a magnification range between 3.6-7.2X and automatic parallax control allow unlimited freedom of movement which alleviates the discomfort of keeping the same distance for a long time. Laser therapy can selectively destroy specific targets within the skin by using an appropriate wavelength and pulse duration. Laser treatment parameters are based on several factors, including lesion location, lesion morphology, and patient skin type. The purpose of our study was aesthetic and functional improvement in patients comparing surgical and laser therapy. We obtained an aesthetic improvement in 11 patients and local pain control in all patients. Analysis of the cosmetic results was subjective but all parents indicated satisfaction with their decision regarding their child's treatment.

Arteriovenous Malformations↗

Duodeno--jejunal vascular malformation.

Vascular malformations are rare but an important cause of obscure upper gastrointestinal bleeding. A patient with a large vascular malformation involving the duodenum and proximal jejunum, presenting with a severe bout of melaena, is described. The diagnosis was suspected on endoscopy and confirmed by angiography and surgery.

Adult↗

[Management of hemangiomas and vascular malformations].

Vascular anomalies can be classified as hemangiomas or vascular malformations. Hemangiomas are benign neoplasms, frequently diagnosed in infancy. The vast majority of these anomalies are totally harmless and spontaneously regress, although they often worry the parents because of esthetic reasons. Only a few (1/4), however, are endangering and will require therapy. Vascular malformations are rather vessel abnormalities which, unlike hemangiomas, persist. They require a thorough evaluation and most will benefit from an intervention. The recent development of informative imaging techniques (ultrasonography, Dopplerflow imaging and magnetic resonance) has permitted significant advances in the etiology and therapy of these vascular anomalies. All too often, these patients shuffle from physician-to-physician seeking help. Thus the authors recommend a multidisciplinary approach. This team should include a plastic surgeon, a radiologist and a paediatrician.

Arteriovenous Malformations↗

Laser therapy for patients with vascular malformations.

Vascular malformation should not be considered just a cosmetic problem but a psychological and potentially functional one as well. Children with birthmarks often receive many curious glances and questions. The flashlamp-excited dye laser was developed to treat capillary vascular malformations with minimal scarring.

Child↗

Transendoscopic Doppler ultrasound: usefulness for diagnosis and treatment of vascular malformations.

Vascular malformations of the GI tract can be treated by thermal methods, including the YAG laser. The diagnosis of these lesions is not always easy, and it is difficult to evaluate the completeness of therapy of these lesions. We investigated the value of Doppler ultrasound in this respect. The TVD-1 (Key Med) transendoscopic vascular detector using the 2.5 mm diameter probe emitting at 7 MHz, was used through standard endoscopes. Outputs were monitored through a loudspeaker, and imaged on an oscilloscope, or recorded on a mingograph. Diagnostic usefulness was studied in 64 vascular lesions, 36 in the colon and 28 in the upper GI tract in ten patients. A Doppler signal was detected in 75% of the lesions, including all lesions larger than 5 mm in diameter. Forty-five lesions in 13 patients were studied before and immediately after laser therapy. Three out of five patients in whom Doppler-positive lesions persisted after laser treatment rebled, as compared with 2 out of 8 patients with Doppler-negativity. Disappearance of the signal, however, may be transient, and is probably due to laser-induced edema. These results suggest that endoscopic Doppler ultrasound may have a role in the diagnosis and treatment of vascular anomalies of the GI tract, and should stimulate further research.

Adult↗

Classification, diagnosis, and interventional radiologic management of vascular malformations.

Vascular anomalies are comprised of either hemangiomas or vascular malformations.Low-flow vascular malformations can be divided into capillary, venous, and lymphatic types and are usually present at birth, undergo pari passu growth, and produce symptoms related to mass effect or stasis. High-flow malformations are comprised pre-dominantly of arteriovenous malformations that follow a more aggressive clinical course of hyperemia, adjacent mass effect, steal phenomenon, tissue destruction, and ultimately high output failure. Ultrasound, CT, nuclear medicine, angiography, and particularly MRI have greatly enhanced diagnostic accuracy and provide detailed information for percutaneous and surgical treatment planning and an objective means of following therapeutic efficacy. Interventional radiologic percutaneous sclerotherapy for low-flow lesions and embolosclerotherapy for high-flow lesions with or without adjunctive surgical intervention have become the mainstay of therapy.

Antimetabolites, Antineoplastic↗

Potential complications of intralesional laser photocoagulation for extensive vascular malformations.

Vascular anomalies remain a challenge for both patients and plastic surgeons. Recently, promising results have been reported using intralesional photocoagulation (ILP) to treat extensive vascular lesions. At the authors' center, they have treated more than 300 patients with vascular anomalies in different parts of the body between 1996 and 1999. They describe their operative techniques of ILP. Laser pulses of a 1,064-nm wavelength from the Nd:YAG laser were delivered to the target tissues with a 600-microm optical fiber. They report 2 patients who developed complications after a single session of ILP therapy for their extensive vascular malformations. The first patient had Klippel-Trenaunay syndrome (capillary-lymphaticovenous malformations) with widespread involvement of her buttocks and left lower limb. She had severe leukocytosis, thrombocytosis, and hyperkalemia that resolved with intravenous hydration, antibiotics, and sodium bicarbonate. In their second patient, the entire left upper limb was affected. Her total red cell count diminished by a quarter and her hemoglobin concentration dropped by more than 3 g%. This was corrected gradually with supplemental oral hematinics. Although these complications resolved uneventfully in their patients, they hope that their possible development will caution anyone who may wish to attempt this new method of therapy.

Adult↗

Hemangiomas and vascular malformations.

Vascular lesions in the neonate and infant are categorized as hemangiomas or malformations. Although their appearances may be similar, the pathobiology, natural history, and prognosis of these lesions are different. Selected important syndromes that are characterized as hemangiomas and vascular malformations are discussed, and an update on what is new in treatment, including laser therapy, is presented.

Arteriovenous Malformations↗

Hemangioma versus vascular malformation: presence of nerve bundle is a diagnostic clue for vascular malformation.

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.

Arteries↗

Prospective, population-based detection of intracranial vascular malformations in adults: the Scottish Intracranial Vascular Malformation Study (SIVMS).

BACKGROUND AND PURPOSE: Intracranial vascular malformations (IVMs) are an important cause of intracranial hemorrhage, epilepsy, and long-term disability in adults. There are no published prospective, population-based studies dedicated to the detection of any type of IVM (cavernous malformations, venous malformations, and arteriovenous malformations [AVMs] of the brain or dura). Therefore, we established the Scottish Intracranial Vascular Malformation Study (SIVMS) to monitor detection and long-term prognosis of people with IVMs. METHODS: We used multiple overlapping sources of case ascertainment to identify adults (aged >or=16 years) with a first-ever-in-a-lifetime diagnosis of any type of IVM made between January 1, 1999, and December 31, 2000, while resident in Scotland (mid-1999 adult population estimate 4,110,956). RESULTS: Of 418 notifications to SIVMS, 190 adults (45%) were included, 181 (95%) of whom were deemed to harbor a definite IVM after review of diagnostic brain imaging and/or reports of autopsy/surgical excision pathology. The crude detection rate (per 100,000 adults per year) was 2.27 (95% CI, 1.96 to 2.62) for all IVMs, 1.12 (95% CI, 0.90 to 1.37) for brain AVMs, 0.56 (95% CI, 0.41 to 0.75) for cavernous malformations, 0.43 (95% CI, 0.31 to 0.61) for venous malformations, and 0.16 (95% CI, 0.08 to 0.27) for dural AVMs. CONCLUSIONS: In addition to providing data on the public health importance and comparative epidemiology of IVMs, continuing recruitment and follow-up of this prospective, population-based cohort will provide estimates of IVM prognosis.

Adolescent↗

MR imaging of cerebral vascular malformations.

Fifteen vascular malformations, including six supratentorial arteriovenous malformations (AVMs), three venous malformations, and six brainstem vascular malformations, were examined on 0.5 T magnetic resonance (MR) and GE 9800 and 8800 computed tomographic (CT) scanners. All the malformations were shown by MR, and the arterial and venous drainage of AVMs was precisely delineated. Hematoma was always differentiated from calcification by MR signal characteristics. Increased signal in the brain parenchyma was often seen adjacent to AVMs. The signal of blood within venous malformations altered with spin-echo techniques using various repetition times and was distinguished from rapidly flowing blood in AVMs that lacked signal in all imaging sequences. Brainstem malformations were seldom demonstrated by angiography. Hemorrhage was common and was invariably associated with multiple areas of absent signal that may have represented abnormal vessels. These appearances are distinct from those of intrinsic tumors and are probably pathognomonic of brainstem vascular malformations.

Brain↗