Com o compreendo cada giradas maior da angiogênese, as anomalias vasculares foram dividir em tumores e malformações vasculares. As malformações vasculares, objeto deste trabalho, eles são categorizadas alternativa pela natureza dos canais vasculares (capilares, arteriais, venosos ou linfáticos), alternativa pelo tipo de fluxo (alto alternativa baixo), ou mas pela dispensados (localizadas ou difusas). Além disso, há as malformações complexas combinadas, dentro quais se ajustar a maioria a partir de síndromes vasculares. Os autores presente uma revisão são de asssunto, discorrendo sobre propriedades clínicas, diagnóstico e curar dessas anomalias.

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classificação; diagnóstico; doença vasculares; doenças vasculares; doenças vasculares; doenças vasculares


As naquela result of raised knowledge on angiogenesis, vaso sanguíneo anomalies have been separated right into tumors e vascular malformations. Vaso sanguíneo malformations, a subject of this review, are classified one of two people by the nature of the vessels (capillary, arterial, venous or lymphatic), kind of flow (high or low) or even by circulation (localized or diffuse). Additionally there are the complex-combined malformations, naquela feature present in most vaso sanguíneo syndromes. Naquela review of ns clinical aspects, diagnosis e treatment of vascular malformations is gift in this paper.

classification; diagnosis; vaso sanguíneo diseases; vascular diseases; vaso sanguíneo diseases


CONTINUING medical EDUCATION

Vascular malformations* * occupational done in ~ tthe Pediatric skiership Ambulatory Clinic, skiership Service, Hospital do Clinicas, UFMG.

Bernardo GontijoI; Luciana Baptista PereiraII; Cláudia Márcia Resende SilvaIII

IAdjunct mestre of Dermatology, ufmg Faculty the Medicine. Ph.D. In Medicine, UFMG. Coordinator of the Pediatric dermatology Ambulatory Clinic, skiership Service, Hospital do Clinicas, UFMG

IIAssistant professor of Dermatology, ufmg Faculty the Medicine. Master"s degree in Medicine, UFMG. Lecturer at a Pediatric skin science Ambulatory Clinic, dermatology Service, Hospital das Clinicas, UFMG

IIIMaster"s degree in Dermatology, UFMG. M.D. E Tutor at the Pediatric dermatology Ambulatory Clinic, skiership Service, Hospital das Clinicas, UFMG

Correspondence

SUMMARY

As der result of raised knowledge on angiogenesis, vaso sanguíneo anomalies have actually been separated into tumors and vascular malformations. Vascular malformations, the subject that this review, ser estar classified one of two people by the nature of the vessels (capillary, arterial, venous or lymphatic), form of flow (high or low) or also by circulation (localized or diffuse). In addition there are the complex-combined malformations, der feature existing in most vaso sanguíneo syndromes. Der review of the clinical aspects, diagnosis and treatment of vascular malformations is gift in this paper.

Key words: classification; diagnosis; vascular diseases/complications; vascular diseases/congenital; vaso sanguíneo diseases/therapy.

arrival

vaso sanguíneo lesions present group difficulties, confusion and overlapping. After many attempts at making ns classification an ext accurate, far better understanding that angiogenesis led Mulliken e Glowacki in 1982 to indicate that vascular anomalies be split into two categories: hemangiomas and vascular malformations.1 this manifestations are differentiated based on their cellular characteristics, clinical appearance e natural history. Hemangiomas estão characterized by ns proliferation the endothelial cells. They are present at bear in somente 40 % of cases (generally as progenitor lesions). Your post-nascent expansion is rapid, followed by slow and spontaneous progression; the female-to-male proportion is 5:1. Vaso sanguíneo malformations show a normal cycle of endothelial cells. Your lesions, of i beg your pardon 90% estão recognized in ~ birth, concertos a proportional development to der child"s e do not show spontaneous involution. A female-to-male ratio is 1:1.1

In 1996 this classification ser estar adopted, com modifications, by the international Society for the pesquisar of vaso sanguíneo Anomalies. As such, vaso sanguíneo lesions were separated into tumors (hemangioma e other tumors) e vascular malformations (capillary, venous, lymphocytic, arterial e combined).2 This dichotomy is no absolute. There may be coexistence that tumors e malformations.3 vascular tumors (hemangioma the infancy and other tumors) were a subject the an short article in continuing Medical education and learning in Dermatology, released in the previous worry of ns Brazilian Annals of Dermatology. A present review focuses on vaso sanguíneo malformations.

vaso sanguíneo malformations are categorized in accordance with the nature of vaso sanguíneo channels (capillary, arterial, venous or lymphatic). It should be emphasized that the coexistence of different vessels in der single lesion is common. In addition, miscellaneous affections show characteristics, circulation patterns e associations com other common morphological alterations. This is why they estão referred to as syndromes e are generally denoted with eponyms.

Vascular malformations may be separated into two categories: either alto or low flow. High flow malformations include arterial malformation (AM), arteriovenous fistula (AVF) or arteriovenous malformation (AVM). Short flow vaso sanguíneo malformations incorporate venous malformation (VM), lymphatic malformation (LM) e capillary malformation (CM). In addition, there estão combined complex malformations in which most syndromes com eponyms ~ ~ filed: lymphatic capillary (LCM), capillary venous (CVM), venous lymphatic (VLM), capillary arterial (CAM), venous-lymphatic capillary (VLCM), venous artérias capillary (VACM), and lymphatic venous arterial capillary malformations (LVACM). Vascular malformation may likewise be classified as localized or diffuse. Com respect come prognosis, they might be inconclusive, resulting in cosmetic or useful problems, or even threatening the patient"s life. The diagnosis is clinical in many cases, however radiological studies may be helpful to delimit ns malformation, detect connected anomalies e define treatment.4 the multidisciplinary method is compelled not only ao diagnosis, yet also para treating vaso sanguíneo malformations.5-7 (Chart 1).


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Although normally sporadic, vaso sanguíneo malformations may at some point be familial e genetically determined.8 In four autosomal dominant vaso sanguíneo disorders (hereditary hemorrhagic telangiectasia, familial glomangiomatosis, familial cerebral venous malformations, e cutaneous venous malformations e multiple mucosas), the defective genes has currently been localized. Mutant genes are also known porque o two recessive disorders: ataxia/telangiectasis and Fabry"s disease.2

CAPILLARY vascular MALFORMATIONS

Port-Wine Stains

Port-wine stain, misnamed as level hemangioma, is commonly referred to as nevus flammeus, though this expression is also used as der synonym the salmon patch. Together these two lesions have distinct significance e prognoses, the term nevus flammeus have to be dropped. Port-wine stain is der congenital vascular malformation the shows no decorrer tendency toward involution. The is generally unilateral e segmentary, e usually respects ns medial line. It boosts in relationship to ns child"s growth, e may be existing on any area of a body. The face and cervical regions estão the most common página da web (Figures 1A e 1B). Ns lesions may be pink throughout infancy, however tend to come to be wine-colored with age. A partir de the outset port-wine stains ser estar totally macular, however with lei and particularly after a fourth te of life, they may concertos an irregular, thick and nodular surface.9 In few children, a lesion may become lighter com age, but bruta remission is unusual.10 the lesion transforms slightly pale to once pressed with the fingers. Its color is intensified with a child"s tears. Microscopically, port-wine stain consists of dilated e mature capillaries in the dermis without any type of evidence of cellular proliferation. Ns etiology of ns lesion is no known. Over there is speculation as to fragility in the capillary walls and a deficit in a number of perivascular nerves top to der neuromodulation deficiency of ns vascular flow at a lesion site.11 In dois studies performed, port-wine stain ser estar found in 0.36%12 e 1.2%13 the NR.



*


*

There estão case reports of familial,14 acquired15,16 e bilateral and symmetrical port-wine stains.17

a therapy of choice is Pulsed-Dye Laser. A treatment need to take lugar, colocar at ns earliest possible time, provided that a youngest crianças usually require naquela fewer sessions and show more favorable therapeutic results. Also, ns result is much better in localized lesions on the face e trunk in relation to those uncovered on ns extremities. Hypertrophy of the soft organization does not respond to the laser, e surgical correction may be necessary.6,18-20

Sturge-Weber Syndrome is characterized by a presence that port-wine stains top top the o primeiro dia branch an ar of the trigeminal nerve, com ipsilateral vaso sanguíneo anomalies on the leptomeninges. One or more of ns following indications or symptoms might be present: epilepsy, hemiparesis or hemiplegia, intracranial calcifications, cerebral atrophy e vascular lesions of a ipsilateral carotid in associação with glaucoma. It is worth emphasizing that só 10% of ns carriers that port-wine stain showing up in the area innervated by ns ophthalmic branch concertos this syndrome.2

Patients demonstrar port-wine stain on the face and glaucoma there is no meningeal anomalies, or meningeal angiomas without port-wine stain on ns face do not satisfy ns criteria to be taken into consideration carriers that Sturge-Weber syndrome.21 patient whose vascular stains ~ ~ distributed só along a maxillary sensory branch e mandible regions são de not present naquela risk the neuro-ocular disease. However, repeated ophthalmologic assessment and computerized tomography of the cranium are indicated only porque o patients com port-wine stain on a ophthalmic area.21

a risk that glaucoma grows as soon as there is share affliction of the ophthalmic and maxillary branches, which may occur in 45% of patients. In 50% of patient intracranial lesion symptoms arise in the o primeiro dia year of vida but very rarely is there onset after lei 20 years. Convulsions, i beg your pardon may occur in 80% that cases, are usually premature, with onset in the o primeiro dia three months of life. Hemiplegia is report in as much as 30% that cases, and mental retardation in 60%. Lesions in the oral mucosa might be present.22

Phacomatosis pigmentovascularis is naquela syndrome combine port-wine stain and other cutaneous lesions, such together epidermal or melanocytic nevus (type 1), dermal melanocytosis com or without anemic nevus (type II), nevus spilus com or there is no anemic nevus (type III), or dermal melanocytosis and nevus spilus with or without anemic nevus (type IV). The letter naquela is appended once involvement is merely cutaneous; letter ns when systemic involvement is connected (hypoplastic larynx, subglottic stenosis, calcifications in the central nervous system, cérebro atrophy, e scoliosis).6,23,24

Beckwith-Wiedemann syndrome includes der capillary malformation on the centrais region of a forehead or top eyebrows. It resembles persistent salmon patch in combinação with a somatic e visceral overgrowth, com macroglossia, enlarged kidneys e exomphalos.25

Robert"s syndrome is defined by severe tetraphocomelia, leporine lip and palatine fissure, santidade retardation e few possibilities porque o survival. Medial facial capillary malformation is usually present.26

Salmon patch

Salmon patch was o primeiro dia reported through French medical professionals in 1881 under a term tache sanguine. But it was Unna, the German dermatologist, who primeiro gave it der detailed summary in 1884. Various names estão used, such together capillary telangiectasis, telangiectasia nevus of ns nape of neck, Unna nevus, erythema of ns nape of neck, hemangioma of the nape that neck and wine-stained nape that neck. Lesions uncovered on ns eyebrows and forehead are commonly recognized as "angel"s kiss". The occipital lesions estão considered come be the marks of der stork"s bite.27 naquela genetic component, probably autosomal dominant, is assumed to be involved in ns etiology of salmon patch.

It is clinically characterized by level pink or red lesions that often have telangiectasias localized on ns occipital region, neck, glabella, forehead, top eyebrows e nasolabial areas (Figure 2A). Lesions usually project when ns child cries e may disappear entirely when compressed. Castle presumably consist of ecstatic dermal capillaries, which stand for persistent fetal circulation fads in a skin. They are usually localized on ns medial line, except com eyebrow lesions. E they should be differentiated são de port-wine stain, which tends to be unilateral and more wine-like. Salmon patch is usually present on more than one site in a same newborn.27,28



ns frequency report in the literature varies from 1.5% to 74%. The most impacted regions estão the nape of ns neck (37.1%), glabella (19.6%), eyebrows (15.4%), nose (1.5%) e upper lip (0.5%).27 Eyebrow lesions show up to regress an ext rapidly 보다 those of a glabella, and the latter an ext rapidly 보다 those localized on ns nape.27,29 many lesions disappear by açao six. Those localized on ns eyebrows and glabella disappear during the o primeiro dia year that life. Ns persistence of ns stain on ns occipital region in adult is frequent e occurs in as much as 50% the individuals.30

Sacral medial telangiectatic vaso sanguíneo stain

as we have already seen, port-wine stain is characterized by gift unilateral and it stubborn unaltered during ns course the one"s lifetime. By contrast, salmon spot is regularly localized on a medial line (except para the localization on a eyebrows) and shows spontaneous involution (except ao the localization on the occipital region, which stubborn in adult life for roughly 50% that patients).

Angiomatous spots localized on the medial line of the sacral region, commonly in der butterfly shape that often tends to persist throughout one"s entire lifetime, have the right to be seen in newborns. They are not commonly classified as port-wine stains or salmon job (Figure 2B). This lesions show up to be associated com bifid spine, spinal dysraphism, intraspinal masses, imperforated anus, and kidney or genital abnormalities together occur com sacral hemangiomas. They show very similar characteristics e progression to salmon patches on the nape. Some authors favor using ns term sacral telangiectatic vaso sanguíneo nevus ao these lesions. Rather have currently included them among salmon patches.31

Telangiectasia

essential telangiectasia (localized or generalized) is naquela vascular modification frequently found in women. It is typically localized on a lower limbs. Onset occurs during or after puberty. It may existing as irregular good lines, or together dot- or star-like macules either com or without an anemic halo.5,6

unilateralmente nevoid telangiectasia occurs primarily in women. Beginning occurs throughout puberty and may intensify with pregnancy. Naquela high variety of estrogen e progesterone receptors has been demonstrated in a skin locations involved.6

benign hereditary telangiectasia is a family disorder characterized by a presence the cutaneous e labial telangiectasias. As opposed come Rendu-Osler-Weber syndrome, the does not show any visceral hemorrhaging.6

Generalized vital telangiectasis is another syndrome appearing sporadically in adult females.6

Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal leading disorder manifested during infancy or adolescence com telangiectasias on a face, tongue, lips, nose, conjunctiva, fingers, ungual bed, liver, lungs, spleen, pancreas e brain.5 Bleeding in a mucouses (recurrent epistaxis com onset throughout infancy and aggravation in adulthood) and in ns visceras (bleeding in a upper e lower cradle tract) may cause anemia. Hereditary hemorrhagic telangiectasia is characterized by genetic heterogeneity com variable phenotypes. Two defective genes have currently been discovered (9q33-34 e 12q). Electrodissection, Laser (Nd: YAG, carbon dioxide or argon), and sclerotherapy have actually been offered to stanch the hemorrhaging.2,6

Ataxia/telangiectasia (Louis-Bar syndrome) is naquela recessive autosomal disorder that is typically fatal ao patients up to their twenties. Cerebellar ataxia (cerebellar degeneration com progressive motivação degeneration) is connected with a presence of ocular telangiectasias (mainly in a bulbar conjunctiva, close to ns corner of a eye). Cutaneous telangiectasia may also occur on ns face, throat and dorsal element of ns hands e feet. Humoral immunodeficiencies (IgA e IgG-2 deficiency) e cellular people (lymphopenia and reduction that CD4+) in combinação with repeated respiratory infections ~ ~ characteristic. Telangiectasia commonly emerges at 3 years the age, and cerebellar ataxia in the second decade of life. Endocrinologic dysfunction (insulin-resistant diabetes, gonadal insufficiency e growth retardation), premature birth aging, ephelides and loss of subcutaneous tissue estão also observed. Syndrome carriers concertos a risk of cancer 61 come 184 times higher 보다 in the general population (mainly lymphomas, leukemias and carcinomas). These neoplasias represent the main cause of death. Ns genetic defect is uncovered in chromosome 11q22-23.2,5,6

Congenital telangiectatic cutis marmorata

Congenital telangiectatic cutis marmorata (van Lohuizen Syndrome) is der reticulated vascular lesion with a blue-violet color. The is usually existing at birth. Together opposed to reticular livedo that is always visible and may also be accentuated com cold weather (Figure 3). Cutaneous lesions tend to improve spontaneously, above tudo in the first two year of life. They may be localized (89% that cases) or much more extensive (11%). Yet there estão no reports on generalised forms.32 the pathogenesis is no known, however autosomal dominant inheritance com variable penetrance, or ns presence of a lethal gene, which survives early to ns phenomenon of mosaicism,, estão among ns hypotheses formulated.32 der functional defect of vascular sympathetic innervation (neurogenic tonus) may describe cutaneous lesions.33 connected anomalies include corpo asymmetry, other vaso sanguíneo anomalies, glaucoma, congenital cutaneous aplasia, palatine fissure, santidade or psychomotor retardation, cutaneous atrophies, and ulcerations.32,33 a pulsed-eyed laser may be used to treat residuais cutaneous lesions.6


Adams-Oliver syndrome, com autosomal dominant inheritance, is formed by congenital telangiectatic cutis marmorata in association with lot of lesions of cutaneous aplasia on a scalp, either with or there is no underlying bone defects and defects in ns limbs.6

LYMPHATIC vaso sanguíneo MALFORMATIONS

Lymphatic malformations are present congenitally in 60% the cases. Lock become noticeable by the second year of vida in 90% the patients. Usually, they do no regress spontaneously, and their intervalo may increase com hemorrhages, liquid build-up or inflammation.5,6

Macrocystic lymphatic malformations (cystic hygroma) ser estar characterized as large, soft lesions with der smooth surface e translucent with usual skin or blue with overlying skin. They estão localized typically in the rear triangle of a throat. Onset may take place in the popliteal space, e retroperitoneal and virilian areas. They are caused by a communication defect between a lymphatic system and the fetal venous which, if that is reestablished later, may result in ns regression that hygroma and improvement the peripheral edema. Cystic hygroma must be differentiated são de the various other cranial-cervical masses, such as encephaloceles e cystic teratoma. Studies show an rise in a-phetoprotein in a amniotic fluid during the pre-natal period. This lymphatic malformation may be associated to fetal hydrops, i beg your pardon reduce the child"s probability of survival.5,6,34

Microcystic lymphatic anomalies (circumscribed lymphangioma) ser estar characterized by ns small vessel group in plaques, on a skin or in mucouses. Castle have naquela translucent contente or ser estar slightly hemorrhagic. They mostly affect a cervical-facial region, axillae, thorax and extremities (Figure 4). There might be hypertrichosis on a site.5,6


Histopathologically, microcystic lymphatic malformations are characterized by good vessel wall surfaces with no decorrer blood within. They estão localized in the dermis, which might or may not have lymphocytes around. A presence the blood within ns vessels may show recent hemorrhaging or naquela combined, normally venous or lymphatic, malformation. With macrocystic lesions, huge cisterns estão found which a partir de no connect directly with ns lymphatic system. In mixed lymphatic malformations (macro- e microcystic), the deep muscular cisterns communicate com the superficialmente dermis by means of naquela complex rede of anastomoses.6

If ns clinical diagnosis leaves any doubts about a lesion"s lymphatic origin, a following techniques might be used: ultrasound to show anechoic or hypoechoic and homogenic cysts; computerized tomography to expose hypodense cysts; e magnetic resonance to concertos hypointense cystic spaces top top T1. A puncture of a lesion might be carried out directly to show the visibility of naquela clear liquid.6 ns lymphatic e vena malformations concertos patterns similar to magnetic resonance. Together opposed to various other lesions, no vessel or lobular architecture is demonstrated. Ns contrast medium may be useful, because lymphatic malformations são de not increase with a contrast. Ns main role of magnetic resonance is to determine the extension and infiltration of ns deep tissues e assist in a differential diagnosis com other soft organization tumors.35

Treating lymphatic malformations is difficult. Lesions that fim up obstructing the respiratory tract require excision, aspiration, tracheostomy and sounding to maintain patient feeding. Infections have to be treated com antibiotics. Operation removal is shown when a lesion interferes with ns function, causes aesthetic problems or gets quickly infected. Porque o localized lesions, complete excision is possible. In diffuse forms usually associated with usual tissues, such together nerves, much more careful excision becomes necessary, typically in numerous sessions. As ao benign lesions, over there is durante indication whatsoever come excise nerves or muscles. Treatment may likewise be attempted with sclerosing agents, such together bleomycin, OK-432, additionally known as picibanil (a dead fungus of ns Streptococcus pyogenes bacteria group), a solution of salt tetradecyl sulphate, with der potential hazard of recurrence and/or infection.5,7,34,36,37

Turner"s syndrome is characterized as a gonadal dysgenesis as result of chromosome X being lacking or defective (46XO). The is generally associated com congenital lymphatic malformations, such together hypoplasic lymphatic vessels, which ~ ~ responsible ao the visibility of lymphedema in ns lower limbs at birth; in most instances these disappear within der few month or years. Various other malformations, such together cystic hygroma, fetal hydrops e ascites, might be detected a partir de the second trimester on through ultrasound. Phenotypically, that is additionally characterized by physical functions such as brief stature, huge thorax with naquela wide room between the nipples, quick webbed neck (pterygium colli), ogival palate, hypoplastic nails, malformed ears and multiple melanocytic nevi.34

Noonan"s syndrome is phenotypically semelhante to Turner"s syndrome, but a cariotype is normal (46XY or 46XX). It is characterized by physical features such as brief stature, a short and thick throat, hypertelorism, epicanthis, low hair line e micrognathia. Together opposed to what occurs in Turner"s syndrome, ns lymphedema is commonly persistent in adult life, one of two people in a stationary or slowly progressivo form. Aplasia or hypoplasia of a lymphatic vessels e lymphangiectasis can also be observed. A thick neck can be explained by a regression that cystic hygromas com collateral formation of lymphatic channels. Questions remain as to whether autosomal dominant inheritance characterizes this syndrome.34

VENOUS vaso sanguíneo MALFORMATIONS

Venous vaso sanguíneo malformations expectations over a wide spectrum, varying em ~ isolated cutaneous ectasias come voluminous lesions entailing manifold tissues and organs. They estão soft e compressible, e show no decorrer alteration in skin temperature, thrill or bruits. They ser estar frequent e wrongly referred to as cavernous hemangiomas. Pure venous malformations normally exhibit blue coloration on the skin or in ns overlying mucosa, while combined venous capillaries exhibit a hue that ranges em ~ dark-red come violet.5,6

the venous malformations estão hemodynamically inactive, with a low flow. Their volume increases when a person is was standing or doing physical efforts. They ser estar present in ~ birth, e worsen progressively throughout infancy, and, to der lesser degree, during adulthood. Their volume may additionally increase with pregnancy or trauma.2,38 They são de not normally involve só the skin, but likewise underlying structures, such together muscles and fascia. Over there is durante overgrowth of ns limbs, i beg your pardon differs a partir de combined vaso sanguíneo malformations, such together Klippel-Trenaunay syndrome. There might be refinement, demineralization, hypoplasia or lytic transforms in a underlying skeletal in as much as 71% of cases.2

a diagnosis is clinical for most cases, but der simple radiography might reveal phleboliths (calcified thrombi) already at age two or 3 years. This round calcifications ~ ~ pathognomic the venous vascular lesions. Straightforward radiography can additionally be useful to assess bone distortions. Magnetic resonance is a best examination to delimit vaso sanguíneo malformation.6

Venous thrombosis is a regular complication, and the thrombi might be palpated at a point of pain. Another feasible complication is the development of consumption coagulopathy para stasis in the ecstatic vascular canals. Com stasis there is development of microthrombi and, secondly, intake coagulation factors. Platelet numbers are moderately low (usually about 100,000/mm3). But these estão higher 보다 what is it was observed in Kasabach-Merritt syndrome. O mesmo, semelhante alterations may happen in lymphatic or linked (venous lymphatic) malformations. Therapy is carried fora with low-molecular-weight heparin. A possibility of consumption coagulopathy have to be investigated before undertaking any type of invasive procedures.2,5,39

Venous vaso sanguíneo malformations cannot be eradicated completely. A usual therapy is sclerotherapy, with a local injection of sclerosing solutions, favor 95% alcohol or sodium tetradecyl sulfur 1% porque o small lesions. Surgical resection may be perform after effective obliteration by sclerotherapy. Ns embolization the arteries sustaining ns malformation is counter-indicated since it may provoke organization necrosis. Photocoagulation by laser might obstruct small área de superfície vessels. Operation excision is a definitive therapy, often rendered impossible however by anatomic, esthetic e functional limitations.5,40

Familial cerebral venous malformations constitute an autosomal dominant disorder. Yet the genes carriers may remain totally free of symptoms. Patients might suffer fainting, cerebral hemorrhaging, and neurological or cephalic deficits. Magnetic resonance displayed venous malformations discovered on a skin and retina as well. Over there is probably naquela genetic heterogeneity, however with a defective gene involved. A defective genes was already found top top chromosome 7q 11-22. It ser estar mapped in number of families with this syndrome, but era absent in others.2

Cutaneous venous malformations and multiple familial mucouses are dominant autosomal diseases consisting the cutaneous-mucosa venous malformations who defect is discovered in chromosome 9p. A cutaneous lesions resemble blue rubber bleb nevus syndrome lesions, yet there is no involvement of ns gastrointestinal tract.2,6

In blue rubber bleb nevus (Bean"s syndrome), vaso sanguíneo malformations ~ ~ present on a skin e in a vessels. The cutaneous lesions ser estar characterized by blue nodules, diverted or in groups. They estão soft, and can one of two people be pains or not. Cases exist in which ns violet color is missing or a lesions resemble one elastic nipple (rubber bleb). Visceral lesions mainly afflict ns gastrointestinal street (esophagus, stomach, tiny or large intestines, anus, e mesentery). Over there is usually recurrent bleeding, ferroprive anêmica and, much more rarely, hypovolemic shock. The oralmente cavity, nasopharynges, genitalia, bladder, brain, spinal medulla, liver, spleen, lungs, bones and muscles may additionally be affected.6

Histologically, a lesions concertos a rede of vascular lakes, delineated by flattened endothelial cells e absence of glomic cells.6

Cutaneous vascular lesions may be treated with sclerotherapy, excision, cryosurgery and Nd: YAG laser. Visceral lesions com bleeding can require photocoagulation or operation resection.6

arterial VASCULAR MALFORMATIONS

arterial malformations (atresia, ectasia, aneurysm or coarctation), arteriovenous malformations (diffuse or localized conglomeration of arteries e vessels com microscopic vaso sanguíneo fistulas) e arteriovenous fistulas (shunts between the artérias branch to bordering veins) are high-flow vascular anomalies characterized by increased local temperature, thrill e bruit.5,38 Pure arterial vascular malformations, such together aneurysm, stenosis e ectasias, rarely occur on a skin together symptomatic lesions. When ns skin is involved, together opposed to the brain, one arteriovenous fistula is usually a result that trauma.6

COMBINED vaso sanguíneo MALFORMATIONS

vaso sanguíneo anomalies may happen jointly com other errors the morphogenesis in associated mesenchymal structures, such together those of the bone tissue. Countless of this disorders are better recognized by your eponyms.

Arteriovenous Malformations (AVM)

Arteriovenous fistulas concertos an epicenter called nidus consist of of arteries that feed and increase vein volumes. They may be current at birth or become evident in beforehand infancy. They never ever regress spontaneously. Puberty or prejuízo may trigger their growth. They ser estar clinically defined by a mass that is spanned over with usual or angiomatous skin, i beg your pardon is normally tense or shiny com increased heat, thrill and bruit on the site. Com AVM progression, drainage veins become an ext evident, tortuous e distended (Figure 5). The hemorrhage is an important complication that deserve to put a patient"s vida at risk.


Doppler ultrasound may be beneficial as a screening method, since it is a non-invasive examination capable of diagnosing naquela vascular lesion e differentiating it from naquela solid tumor mass. In addition, it enables us to distinguish vaso sanguíneo malformations consist of of artérias vessels, such as (high flow) AVM, from others whose arterial flow is missing (low flow).41 Magnetic resonance better shows lesion extension and differentiates a AVM from der hemangioma, and venous or lymphatic malformation.6 Invasive examinations of ns venous sistema (venography) e of the artérias system (arteriography) estão carried out só by planning e performing the treatment.7

As ao prognosis, arteriovenous fistula is the most predictable vascular malformation. It have the right to cause a destruction of local tissues e systemic effects. Partial excision or linking of a feeder artery may collection off lesion growth and considerably worsen a prognosis. Alterations of a Kaposi pseudo-sarcoma form may it is in initiated on a skin at ns region influenced by ns arteriovenous fistula.6

the arteriovenous fistula is not typically treated in the quiescent phase. Premature birth embolization or surgery in this phases estão controversial e must apenas um be indicated when it can be carry out easily. Linking or perto de embolization of the feeder arteries ser estar counter-indicated, because ns neighboring arteries grow and increase a lesion volume. The treatment must be conducted only by skilled individuals, preferentially in a multidisciplinary approach.7 the following therapeutic resources may be employed: transcatheter embolization of ns nest, add by pulsed-dye laser porque o residual skin lesions; superselective arterial embolization of ns nest and surgical resection normally performed 24 to 72 hours after artérias embolization.6,42

Wyburn-Mason syndrome (Bonnet-Dechaune-Blanc syndrome)

components of this unilateral retinoic arteriovenous malformation syndrome involve a optic e orbital nerves, ipsilateral arteriovenous malformation of a brain e ipsilateral vaso sanguíneo cutaneous malformation (usually with increased local temperature and thickness). This cutaneous vascular malformation does not accompany ns trigeminal nerve, thereby separating it from port-wine stain.6

Brégeat"s Syndrome

This walk not show a retinoic arteriovenous fistula, yet exhibits vascular anomalies in ns conjunctiva, ipsilateral thalamo-encephalic AVM and angiomatous patch in the contra-lateral frontal region.6

Cobb"s syndrome

also called cutaneous-meningeal-spinal angiomatosis, this syndrome consists of cutaneous AVM e in the spinal medulla localized on ns corresponding segment of the dermatome involved.6,22

Servelle-Martorell syndrome

This syndrome associates port-wine stain, venous malformations and limb hypotrophy (venous or deep artérias hypotrophy).6

Klippel-Trenaunay-Parkes-Weber syndrome

This is a expression offered to explain an angio-osteo-hypertrophic condition whose etiology is not known and phenotype, highly variable. The combination of der port-wine stain (capillary VM), tissue edema (lymphatic and venous VM) and bone overgrowth is referred to as Klippel-Trenaunay syndrome. Later, Parkes-Weber described ns syndrome together having der presence the arteriovenous anastomosis on the affected limb. They thus had actually their names added to a eponym. Ns bone overgrowth appears to be secondary to one embrionary defect of ns mesoderm the would likewise be responsible para vascular anomalies. The other hypothesis suggests that the bone hypertrophy would certainly be because of increased osteogenic function. Part of a veins (the página marginal thigh vein) may represent persistent embrionary veins. In family studies, only uma monozygotic pair is affected, which argues somatic mutation in premature embrionary development.6

The usual triad is macromelia, varicosities and port-wine stain, with unilateral affection e presence of the latter because infancy.34 ns most typical localization is a anterolateral an ar of ns thigh in naquela geographic pattern. Clear e hemorrhagic lymphatic vessels may be existing on the surface e there is an poor venous return (Figure 6).6 as soon as there ser estar arteriovenous fistulas along a affect limb, heat, thrill and bruit estão encountered mostly at a level of ns joints. There is der description in the literature of a presence of this syndrome on ns face.43


complications like increased limb size, riot bone lesions, pathological fractures, cutaneous ulceration, cutaneous alterations of a Kaposi"s pseudosarcoma type, and a quick heart beat com congestive cardiac insufficiency may occur. Vaso sanguíneo anomalies linked with a trunk and abdomen might provoke hematuria, intestinal bleeding, protein-losing enteropathy e hemothorax.6

the treatment is conservative. The lymphedema e venous edema need to be cared para by utilizing palliative measures, such as elastic compresses. On a other hand, that should só be permitted when naquela Doppler evaluate confirms enough functioning of ns deep veins. Regular lymphatic draining (massage) is beneficial to minimize the lymphedema. Varicose veins may be cure surgically. Aggressive surgical actions may reason fibrosis and worsen the lymphedema. If there is an extreme discrepancy in limb size, corrective shoes need to be provided to stop scoliosis. If the difference is greater than 8 cm, epiphysis surgery should done, preferable when the child is in between ages 11 e 13 years. A port-wine stain may be decreased with a use of the pulsed-dye laser. Bleeding might be treated com electrocoagulation or with Nd YAG Laser.6,34

Proteus syndrome

Proteus syndrome was recognized ao the o primeiro dia time as der distinct nosological entity in 1979 by Cohen e Hayden. They described it as a new hamartomatous syndrome.44 In 1983, Wiedman suggested a name Proteus syndrome porque o the disease. He defined four cases with ns following characteristics: partial gigantism of ns hands and feet, pigmented nevus, hemi-hypertrophy, subcutaneous tumors, macrocephaly and other cranial and visceral anomalies. A name derives from the Greek god Proteus who ser estar able to transform self so as to avoid gift captured. Coining this term foi ~ timely offered that ns syndrome is identified by large morphological sports in appearance e progression. The most famous patient was joseph Merrick, who story ser estar told in naquela book and film entitled ns Elephant Man. Initially considered to be der carrier the neurofibromatosis, a diagnosis the Proteus syndrome ser estar accepted by 1988 in the wake the Cohen"s studies.44

The disease is assumed to be der congenital hamartomatosis affecting three embryo layers, result in excessive tissue growth. Palmar and plantar cerebriform hyperplasia is one of a characteristics of the syndrome (Figure 7A). An additional typical finding relates come cutaneous tumors that exhibit der wide histological selection (verrucous epidermal nevus, lipomas, collagenomas).2-45


Vascular malformations estão rather constant in Proteus syndrome: Port-wine stain (Figure 7B), macrocystic and microcystic type lymphatic malformations, combined vaso sanguíneo malformations of the limbs, such together Klippel-Trenaunay syndrome (low circulation capillary and venous malformations and lymphatic malformations com gigantism of the affected limb). No observations have yet to be made of alto flow vascular malformations, like ns arteriovenous fistula that Parkes-Weber syndrome.2

Maffuci syndrome

In Maffuci syndrome there is coexistence of vascular anomalies (lymphatic and venous) associated com bone e exostoses e enchondromas. The is naquela rare condition that appears not to have der hereditary character. The is normally not detected in ~ birth, com bone lesions showing up in the first years that life. Vaso sanguíneo lesions show up later, either uni- or bilaterally. These patients may construct fusiform cell hemangioendotheliomas (today thought about reactive vascular proliferation, which is an additional to a preexistent vaso sanguíneo malformation, more than a real tumor). The malignant transformation, normally chondrosarcoma, wake up in 20 to 30% that patients.37

Riley-Smith syndrome

This is der familial syndrome consisting of lot of subcutaneous vaso sanguíneo malformations, pseudopapilledema e macrocephaly.5

Solomon"s syndrome

Solomon"s syndrome consists of capillary vascular e venous anomalies in any kind of localization on a skin, arteriovenous malformation that the centrais nervous sistema in combinação with skeleton abnormalities (bone hypertrophy), and epidermal nevus.5

Bannayan-Riley-Ruvalcaba syndrome

This is an autosomal dominant an illness in which naquela mutation occurs on chromosome 10 (10q23). That clinically each other Cowden"s syndrome. A major clinical characteristics ~ ~ macrocephaly, many lipomas (capsular or diffuse and infiltrating), polyps ~ above the longe ileus e colon, Hashimoto thyroiditis, pigmented macules on ns glans penis and vascular malformations that may be capillary, venous, lymphatic and possibly arteriovenous.24-37

*

referrals

Received in December, 05rd of 2003

approved by the editorial Council and accepted para publication in December 10th that 2003

Questions and Answers to questions

1. Em relação ~ por hemangiomas e malformações vasculares, assinale a alternativas incorreta.


a) A ligação de freqüência no sexo feminino e no masculino das malformações vasculares denominada de 1:1, decorrente nos hemangiomas denominações de 5:1.

b) as malformações vasculares presente proliferação das célula endoteliais nos primeiros a idade de vida, emprego que explicação seu aumento proporcional ao crescimento da criança.

c) período 90% ns malformações vasculares são reconhecidas aos nascimento.

d) Os hemangiomas apresenta crescimento velozes pós-nascimento, segue de involução espontânea lenta.


a) azul rubber bleb nevus;

b) higroma cístico;

c) síndrome de Parkes-Weber;

d) síndrome de Rendu-Osler-Weber.


a) Epilepsia, hemiparesia, hemiplegia, atrofia cerebral são manifestações neurológicas da síndrome.

b) lesões na mucosa oral podem ser presentes.

c) O risco de glaucoma aumentar quando há acometimento a partir de ramos oftálmico e maxilar em conjunto.

d) Os pacientes abranger mancha em vinho dá Porto na gamas de inervação a partir de nervo oftálmico apresentam risco de 90% para a síndrome de Sturge-Weber.


a) der cútis marmórea telangiectásica congênita desaparece em residencial todas as crianças, de formato total alternativa parcial.

b) naquela mancha salmão demonstrado na área occipital continue em até ~ 50% são de adultos.

c) a mancha vascular telangiectásia medial sacral, genericamente em forma de borboleta, associa-se freqüentemente com malformações a partir de sistema indignação central, principalmente alcançar a espinha bífida.

d) a síndrome de Louis-Bar de um modo geral associa telangiectasias, ataxia cerebelar e imunodeficiências.


5. As alternativas debaixo descrevem propriedades da telangiectasia hemorrágica hereditariedade (síndrome de Rendu-Osler-Weber), exceto:


a) as injúrias já ~ ~ presentes ~ por nascimento, ocor rendo der maioria do mortes no prazo neonatal;

b) denominações doença autossômica dominante, já fazendo sido conheceu dois genes defeituosos (9q33-34 e 12q);

c) sangramento são de trato gastrointestinal, epistaxes e hemoptises podem causa raiz anemia;

d) sangramentos dentro mucosas para o presença de telangiectasias na face, língua, lábios, nariz e conjuntiva apresentou a síndrome.


a) der dosagem de alfa-fetoproteína durante líquido amniótico no período pré-natal está aumentada nas malformações linfáticas microcísticas.

b) together malformações linfáticas ~ ~ presentes ~ por nascimento, nunca involuem alcançar o crescimento e podem aumentar de volume através dos hemorragia, acúmulo de líquidos ou inflamação.

c) Na síndrome de Noonan sim uma alteração cro-mossômica, e a maioria das crianças acometidas apresenta o genótipo 46XO

d) o uso de agente esclerosantes, como o OK-432, isso é indicado em algumas formas de malformações linfáticas.


a) a punctura direto da lesão capaz útil para diagnóstico uma malformação vascular linfática cabelo extravasamento de fluidos corporais claro.

b) naquela ressonância magnética sempre diferencia uma malformação vascular linfática de uma venosa, contudo de as dois serem malformações vasculares de baixa fluxo.

c) together malformações vasculares linfáticas macrocísticas geralmente associam-se alcançar hidropisia fetal e ascite, aumentar as possibilidade de morte neonatal.

d) emprego pterygium colli denominações provavelmente secundário a um higroma cístico que presente regressão e formou uma membrana sobras ligando naquela cabeça vir pescoço.


a) naquela radiografia simples isso pode ser diagnóstica enquanto se achar flebólitos.

b) eles são hemodinamicamente inativas, de baixo fluxo, seu tamanho algum se alterando abranger a posição são de paciente ou alcançar esforços físicos.

c) Pode ser desmineralização, hipoplasia ou alterações líticas nós ossos subjacentes em prateleira de 70% são de casos

d) Podem introduzir piora alcançar o mais da idade, durante gravidez ou abranger traumas.


9. As alternativas abaixo descrevem viabilidade complicações a partir de malformações vasculares venosas, exceto:


a) hemorragias cerebrais e retinianas;

b) sangramentos alcançar anemia ferropriva e, mais rara mente, choque hipovolêmico;

c) síndrome de Kasabach-Merritt abranger plaquetas abaixo de 100.000/mm3 e outros distúrbios da coagulação;

d) trombose venosa profunda.


10. Together alternativas abaixo relacionam características das malformações vasculares arteriais, exceto:


a) seu tamanho altera-se facilmente alcançar a compressão manual;

b) geralmente dele tamanho não varia de acordo alcançar a posição são de paciente;

c) naquela pele sobrejacente excluir lisa, brillant e é um presente aumento da temperamento local;

d) presença de frêmito e sopro.


a) A pertencente da artéria nutridora excluir o curar de escolha por impedir o crescimento progressivo da lesão.

b) naquela ressonância magnética delimitar melhor a extensão da lesão dá que a ultra-sonografia, du de aqueles representar um ótimo teste de screening.

c) der ultra-sonografia alcançar Doppler diferencia ns mal o progresso de fazendo vascular de alto fluxo de 1 de baixo fluxo.

d) Exames invasivos, gostar a venografia ou arteriografia, ~ ~ indicados para o planejamento são de tratamento.


a) Caracteriza-se pela tríade clássica: macromelia, varicosidades e trabalho em vinho dá Porto.

b) naquela escoliose isso pode ser uma complicação entre eles síndrome.

c) o acometimento é geralmente unilateral, localização em apenas um membro e apresentada desde a infância.

d) ministérios uso de meias elásticas compressivas isto é sempre indicado no curar dessa síndrome.


a) naquela hiperplasia cerebriforme palmar e plantar é um dos sinais característicos da síndrome.

b) É respeitável uma hamartomatose congênita que afetar os três folhetos embrionários e sim como resultado o crescente excessivo dos tecidos.

c) É regularmente nessa síndrome naquela presença de fístula arteriovenosa, à o mesmo da síndrome de Parkes-Weber.

d) apontar em vinho do Porto e malformações vasculares combinar semelhantes às que aparecer na síndrome de Klippel-Trenaunay são comum nessa entidade.


a) anomalias vasculares linfáticas e venosas;

b) caráter genético, recessiva, ligada aos cromossoma X;

c) encondromas e exostoses ósseas;

d) converter maligna em proporção que variado de 20 der 30% dos casos, de um modo geral para condrossarcomas.


a) Malformações venosas cutâneas e mucosas parentes múltiplas: assemelham-se à síndrome blue rubber bleb nevus, du sem acometimento a partir de trato gastrointestinal.

b) Síndrome de Bannayan-Riley-Ruvalcaba: macrocefalia, lipomas múltiplos, malformações vasculares.

c) Síndrome de Cobb: angiomatose cutâneo-meningo-espinhal alcançar malformação vaso sanguíneo na marca espi nhal e cutânea durante segmento correspondente vir dermátomo envolvido.

Ver mais: Mensagens De Boa Sorte Na Cirurgia : Não Tenha Medo!, Mensagens Para Quem Vai Fazer Cirurgia

d) Síndrome de Wyburn-Mason: malformação vascular retiniana e facial, acompanhando naquela inervação a partir de trigêmeo gostar de na síndrome de Sturge-Weber.