Hemangioma syndromes

1. SYNDROMES
ASSOCIATED WITH
VASCULAR TUMORS AND
MALFORMATIONS
DR.NIVETHA

2. INTRODUCTION
HEMANGIOMA
INFANTILE CONGENITAL
UPPER SEGMENT LOWER SEGMENT
PHACES 1.LUMBAR SYNDROME
2.PELVIS SYNDROME
3.SACRUM SYNDROME

3. VASCULAR MALFORMATIONS
LOW FLOW HIGH FLOW
-STURGE WEBER SYNDROME - BONNET-DECHAUME-BLANC
SYNDROME
-KLIPPEL TRENAUNAY SYNDROME -PARK WEBER SYNDROME
-PROTEUS SYNDROME -OSLER RENDU WEBER SYN
-CUTIS MARMORATA TELANGIECTATICA -COBB SYNDROME
CONGENITA -COWDEN SYNDROME
-ADAMS OLIVER SYNDROME -EHLER DANLOS SYNDROME
-BLUE RUBBER BLEB NEVUS SYNDROME -BANAYAN RILEY RUBALCAVA
-MAFFUCCI SYNDROME
-GORHAM STOUT SYNDROME

4. PHACE SYNDROME
• DEFINITION AND ETIOLOGY-
• Involvement of several adjacent segments of the neural crest
with posterior fossa malformations ,large facial
hemangiomas,arterial anomalies,cardiac defects or
coarctation of the aorta ,eye or endocrine anomalies and
sternal defects.
• Approximately 90% of patients are female.

5. • SKIN FINDINGS-
• Plaque like facial
hemangioma in
trigeminal distribution
,sometimes with
ulcerations.
• If hemangiomas are
larger than 5cm
,obtain brain MRI.

6. • RADIOLOGY FINDINGS-
• Hypoplasia / agenesis of cerebellum ,vermis, corpus callosum
• Arterial ectasias and/or stenoses/occlusions,as well as
persistence of embryological arteries and agenesis of the
carotid or vertebral artery ipsilateral to facial hemangioma.
• Intracranial hemangiomas,particularly in the internal auditory
canal.
• Microphthalmia and optic nerve hypoplasia
• Ectopic lingual thyroid.

8. LUMBAR SYNDROME
• LUMBAR syndrome is a rare condition that appears as
a hemangioma or multiple hemangiomas on the lower body,
in association with other congenital (present at birth)
anomalies, including:
• Lower body hemangioma and other cutaneous defects
• Urogenital anomalies
• Myelopathy
• Bone deformities
• Anorectal malformations, arterial anomalies
• Renal anomalies
• LUMBAR is an acronym for this group of conditions

9. PELVIS SYNDROME
• PELVIS syndrome is a an association
between segmental infantile haemangiomas of
the perineum (around the genitals and anus)
and congenital anomalies involving the genitalia, urinary tract,
spine, anus, and rectum.
• It stands for:
• Perineal haemangioma
• External genitalia malformations
• Lipomyelomeningocele
• Vesicorenal abnormalities
• Imperforate anus
• Skin tag

10. SACRAL SYNDROME
• SACRAL syndrome is a congenital condition characterized by
• spinal dysraphism
• anogenital,
• cutaneous,
• renal,
• and urologic anomalies,
• associated with an angioma of lumbosacral localization.

11. LOW FLOW

12. STURGE WEBER SYNDROME
• DEFINITION AND ETIOLOGY-
• Sporadic congenital disorder caused by somatic mosaic
mutation in the GNAQ gene (guanine nucleotide binding
proteins) on chromosome 9q21.
• Most common symptoms and signs are facial cutaneous
vascular malformations (port –wine stains),seizures, and
glaucoma.
• Stasis results in ischemia underlying the leptomeningeal
angiomatosis,leading to calcification and laminar cortical
necrosis.

13. • SKIN FINDINGS-
• “PORT-WINE STAINS”
in distribution of the
trigeminal nerve
• Present at birth and
can extend to
mucosal surfaces

14. • Sturge-Weber syndrome is characterized by a port wine stain
(ie, a capillary malformation) on the face and vascular
malformations in the pia mater and choroid in the area of the
trigeminal nerve.
• It is thought to result from failure of the primitive venous
plexus to regress and mature properly .
• Most cases are considered nonhereditary
• The most common clinical finding of SturgeWeber syndrome is
a facial port wine stain affecting the first, and sometimes the
second, branch of the trigeminal nerve

15. • RADIOLOGICAL FINDINGS-
• Role of imaging: confirms diagnosis and determine extent of
anomalies
• CT: “TRAM-TRACK” calcifications associated with cortical
laminar necrosis and ipsilateral cerebral volume loss,most
commonly involving the occipital and temporal lobes.
• MRI: contrast enhancement of leptomeningeal and ocular
vascular malformations.

16. CT Scan showing tramtrack
calcification
MRI showing cerebral atrophy
and leptomeningeal
enhancement

17. KLIPPEL TRENAUNAY
SYNDROME
• Klippel-Trénaunay syndrome is a major syndrome that exhibits
low-flow vascular malformations.
• It was reported in 1900 by Klippel, a French neurologist, and
Trénaunay, a French physician
• The cause of Klippel-Trénaunay syndrome has been reported
to be a specific anomaly that occurs in the ischial venous
system at around 6 fetal weeks, with varicose-like venous
anomalies that persist on the lateral aspect of the lower limb

18. • Klippel-Trénaunay syndrome has three classic clinical findings:
capillary malformations or patchy port wine stains covering a
large area of the affected limb that may involute by the time
the patient reaches 20–30 years old
congenital varicose veins or venous malformations
characterized by abnormal, dilated blood vessels called lateral
megaveins that develop on the lateral aspect of the affected
limb
bone and soft-tissue hypertrophy resulting from overgrowth.
Although just one lower limb is affected in more than 75% of
patients, in some patients, an upper limb or both lower limbs
are affected

19. Klippel trenaunay syndrome

20. • The most common major imaging finding of Klippel-Trénaunay
syndrome is overgrowth of subcutaneous soft tissues in the
lower limbs.
• Vascular overgrowth appears as an area with slow uptake of
contrast material in the delayed phase, a finding indicative of
low flow.
• Deep venous malformations are commonly seen in the
femoral vein.
• Because of overgrowth of soft tissues, the affected limb is
usually thicker and longer than the nonaffected limb

21. • Complications of Klippel-Trénaunay syndrome include
• deep vein thrombosis,
• pulmonary embolism,
• infection or sepsis,
• chronic coagulopathy,
• bloody stools,
• hematuria,
• epistaxis

23. PROTEUS SYNDROME
• Proteus syndrome is characterized by soft-tissue swelling,
connective tissue nevi, low-flow vascular malformations, and
asymmetric overgrowth of bones in various body parts
• In 1983, Wiedemann et al named it Proteus syndrome after
the Greek god of the same name, who could change his
shape.
• Previous research suggested involvement of the phosphatase
and tensin homolog (PTEN) gene, and the disorder was
reported to be a PTEN hamartoma tumor syndrome .
• However, in 2011, Lindhurst et al identified a mutation in Akt-
1 kinase in patients with the condition

24. • The common clinical findings of Proteus syndrome are a
mosaic distribution of lesions in every germ layer, a
progressive clinical course, and nonhereditary disease .
• Considering that many patients have no or mild symptoms at
birth with rapid aggravation of symptoms at puberty, early
diagnosis may be difficult .
• However, it is important to make the diagnosis as early as
possible and determine long-term treatment strategies,
including surgery to combat expected overgrowths during
puberty

25. Axial T1-weighted MR image
shows lipomatosis along the
erector muscle of the spine
(arrows) and a subcutaneous dorsal
lesion (arrowheads).
Coronal T1-weighted MR
image shows
megaspondylodysplasia at
T11 and T12 vertebrae
(arrows).

26. Radiograph shows asymmetry of
subcutaneous soft tissues.
Photograph of the scapula
shows right-sided soft-tissue
proliferation (arrow)
indicative of subcutaneous
lipomas.

27. Axial T1-weighted MR image
shows proliferation of muscle
and subcutaneous fat in the
right foot.
Photograph of the feet shows
soft-tissue asymmetry.

29. • Patients who have criterion A and two of criterion B or three
of criterion C receive a diagnosis of Proteus syndrome .
• At imaging, asymmetric bone and soft-tissue overgrowth and
hypertrophy of fat are seen.
• Skull enlargement, thickening of digestive tract walls, and
cystic emphysematous alteration of the lung may also be
observed

30. CUTISMARMAROTATELANGIECTATICA
CONGENITA
• it is a congenital vascular anomaly characterized by persistent
cutis marmorata and phlebectasia, and sometimes cutaneous
atrophy and skin ulceration.
• It is usually a benign congenital skin lesion and is present at
birth but may also appear up to 3 months to 2 years after
birth.
• The pathogenesis of these disorders is not very clear and the
cause may be multifactorial.

31. • Most cases occur sporadically although rare cases occur in
families.
• Teratogens and autosomal dominant mode of inheritance
with incomplete penetrance have been considered as
etiologies.
• Some authors suggest that lethal gene hypothesis (i.e. the
lethal dominant gene survived by means of mosaicism) best
explains the patchy distribution of the lesion in many cases
and its sporadic occurrence.
• CMTC has been reported in association with fetal ascites and
elevated maternal beta human chorionic gonadotropin
hormone.

32. • The association of macrocephaly with CMTC is a subgroup of
distinct disorder and may be associated with overgrowth
syndrome.
• Some cases are associated with arrhythmia and sudden death
may occur, thus requiring close monitoring and this may lead
to failure to thrive (FTT).
• Remarkable reports include atypical CMTC with
retinoblastoma.

33. • Interestingly, association with tumor syndromes such as
meningioma or leukemia have also been reported.
• Uncommonly; mental retardation, aplasia cutis congenital,
multicystic renal disease, glaucoma, Mongolian spot [12] and
many other associations have been reported with this
disorder.
• The disorder is diagnosed clinically and histopathology is not
much helpful.
• Dilatations of capillaries and venules occur in the dermis, a
proliferation of vascular channel is an atypical
histopathological finding.

34. • The imaging studies are indicated only for the evaluation of
suspected congenital anomalies.
• The disorder is self limiting and treatment is not necessary unless
complicated with other associated anomalies, for example,
glaucoma, multicystic kidney disease, limb asymmetry, and cardiac
malformations.
• The prognosis is good with improvement of the skin lesions
especially during the first two years of life and the phenomenon is
attributed to maturation of the skin along with the growth of the
child.

35. ADAMS OLIVER SYNDROME
• Adams–Oliver syndrome (AOS) is a rare variably expressed
congenital disorder.
• characterized by the presence of aplasia cutis congenita (ACC)
of the scalp and transverse limb defects and cutis marmorata
telengiectatica congenita (CMTC).
• The ACC typically involves the vertex of the scalp and less
commonly areas such as the parietal scalp, trunk, and limbs.
• Scalp ACC may be accompanied with underlying bony defect
leading to serious complications such as encephalocoele,
meningitis, and hemorrhage.[3]

36. • the transverse limb defects are asymmetrical and affect the
lower limbs more than the upper limbs.Brachydactyly is the
most consistent feature described.
• Loss of terminal phalanges, syndactyly, agenesis of toenails or
fingernails, or absence of toes, foot, lower limb, fingers, and
hand have been described but are less common.
CMTC is a variable feature seen in 20–25% of the children and
may involve the entire skin.
• Congenital cardiac defects are seen in approximately 20% of
AOS. These include ventricular septal defect, tetralogy of
Fallot, atrial septal defect, pulmonary atresia, and pulmonary
arterial hypertension.

37. BLUE RUBBER BLEB NEVUS
SYNDROME
• Blue rubber bleb nevus syndrome (Bean syndrome) was
described by Bean in 1958 (30) and is characterized by venous
malformations of the gastrointestinal tract and skin
• The typical finding of blue rubber bleb nevus syndrome is
multiple cutaneous venous malformations—blue to black,
rubbery nevi—that range from 0.1 cm to 5.0 cm in diameter.

38. • Multiple venous malformations of the gastrointestinal tract
are also present, and some patients develop gastrointestinal
hemorrhage and bloody stools.
• Reported complications of blue rubber bleb nevus syndrome
include anemia, chronic coagulation disorders, hemothorax,
tumors, hypercalcemia, and vascular malformations of internal
organs.
• Endoscopic injection sclerotherapy, laser therapy, and surgical
resection have been proposed to treat venous malformations
of the gastrointestinal tract

39. • At imaging, characteristic findings of blue rubber bleb nevus
syndrome reflect venous malformations of the gastrointestinal
tract.
• Barium contrast studies of the gastrointestinal tract show
multiple polypoid defects of various sizes that correspond to
venous malformations,
• and radiographs and CT images depict multiple calcifications
that are thought to be phleboliths
• From such findings, only one diagnosis is possible

40. Bluerubberblebnevussyndromeinan8-year-oldboywhopresentedwithbloodystools.(a)
Anteroposteriorradiographshowsmultiplenodularcalcifications(arrows)intheabdomen.(b)
CoronalcontrastenhancedCTimageshowsnumerousmassesandmultiplephlebolithsinthewall
ofthecolon(arrows).Theliverparenchymademonstratesinhomogeneousenhancement,with
severalphleboliths(arrowheads),afindingindicativeofvenousmalformations.

41. MAFFUCCI SYNDROME
• DEFINITION AND ETIOLOGY-
• Rare,non hereditary dyschondroplasia consisting of multiple
enchondromas,hemangiomas and less commonly
lymphangiomas.
• Prevalence of malignant transformation of skeletal lesions is
25%-30% and other malignancies,such as astrocytomas are
predisposed.
• . Maffucci syndrome is characterized by enchondromatosis
complicated by multiple low-flow vascular malformations
(mainly venous and rarely lymphatic)

42. • SKIN FINDINGS-
• The hemangiomas in maffucci
syndrome are mostly located
in the subcutaneous soft
tissues and appear as blue
subcutaneous nodules.
• Involvement of the short
tubular bones in the
extremities is common;
• Firm masses related to soft
tissue extension of
enchondromas.

43. • RADIOLOGICAL FINDINGS-
• Hemangiomas appear as
enhancing tumors in the
subcutaneous tissues.
• Enchondromas appear as T2
hyperintense ,enhancing
intraosseous lesions
• Astrocytomas appear as
infiltrating tumours +/-
enhancement
• Imaging surveillance for
malignant degeneration

44. GORHAM STOUT SYNDROME
• In 1955, Gorham and Stout analyzed the pathologic findings in
24 patients with spontaneous bone lysis and proposed naming
the disease massive osteolysis.
• Gorham-Stout syndrome is characterized by cryptogenic bone
lysis with lymphatic malformations.
• At pathologic analysis, a proliferation of dilated lymph
channels communicate with blood vessels in the bone. The
cause of Gorham-Stout syndrome has not been clarified

45. • Its common clinical findings include serous pleural effusions,
chylous pleural effusions, and pain in affected parts of the
body.
• It can affect any bone in the body, and osteolytic,
degenerative changes are progressive.
• Many patients develop the condition during early childhood or
adolescence.
• Although some researchers have reported that interferon and
steroid therapy are useful, there are no known, validated
treatments for Gorham-Stout syndrome

46. • Osteolytic lesions of unknown cause are seen at imaging.
• Although localized osteoporosis manifests at an early stage in
some patients, it is not specific to this condition.
• At MR imaging, the signal intensity of lesions varies depending
on their disease activity; for instance, the soft tissues around
osteolytic areas may have low signal intensity on T1-weighted
images and high signal intensity on T2-weighted or short
inversion time inversion-recovery images with minimal
contrast enhancement .
• When an osteolytic lesion of unknown cause is identified,
Gorham-Stout syndrome should be considered.

47. • Gorham-Stout syndrome in a 13-
year-old-girl who presented with
back pain. (a, b) Radiograph (a)
and CT image with three-
dimensional reconstruction (b) of
the chest show absence of the
right 5th through 9th ribs and
scoliosis. (c) Axial T2-weighted
fat-saturated MR image obtained
at the level of the T8 vertebra
shows an area of markedly high
signal intensity within an
osteolytic lesion (arrows). (d)
Axial contrast-enhanced T1-
weighted MR image shows that
the lesion demonstrates minimal
enhancement (arrows).

48. HIGH FLOW

49. BONNET –DECHAUME-BLANC
SYNDROME
• Bonnet-Dechaume-Blanc syndrome or Wyburn mason's
syndrome or Retinoencephalofacial angiomatosis is a
rare arteriovenous malformation (AVMs) condition.
• The special name for wyburn mason's syndrome is called
congenital retinocephalofacial vascular malformation
syndrome" ("CRC syndrome")
• The exact pathogenesis of Bonnet-Dechaume-Blanc syndrome
is not completely understood.

50. • It is understood that Bonnet-Dechaume-Blanc syndrome may
be caused by genetic factors but which are involved are
difficult to say.
• It is understood that Bonnet-Dechaume-Blanc syndrome is
also may be caused by anomaly in organogenesis.
• The symptoms of Bonnet-Dechaume-Blanc syndrome usually
develop in the first decade of life, and start
with symptoms such as visual-field abnormalities.

51. • Common complications of Bonnet-Dechaume-Blanc syndrome
include:
• Retinal detachment(serous type)
• Cutaneous reactive angiomatosis
• Central retinal vein occlusion
• Central retinal vein occlusion when in association with rubeosis
iridis and secondary glaucoma gets complicated
• Acute or subacute, recurrent, or catastrophic hemorrhagic
• Seizures
• Hemiparesis
• Hydrocephalus
• Significantly decreased vision

52. PARK WEBER SYNDROME
• Parkes Weber syndrome is characterized by overgrowth of the
affected limb with small diffuse arteriovenous fistulas or
shunts.
• Parkes Weber syndrome may be confused with Klippel-
Trénaunay syndrome;
• however, these conditions should be differentiated to the best
extent possible: Whereas lowflow vascular malformations are
present in patients with Klippel-Trénaunay syndrome, Parkes
Weber syndrome is associated with high-flow malformations.
• The frequency of Parkes Weber syndrome is unknown
because of its similarity to Klippel-Trénaunay syndrome.

53. • Although its clinical features resemble those of
KlippelTrénaunay syndrome, Parkes Weber syndrome is
characterized by numerous small periarticular arteriovenous
fistulas or shunts in the affected limb.
• Some patients also develop pseudo-Kaposi sarcoma (pseudo-
capillary malformation), a feeling of warmth over the affected
skin, or lymphedema, a result of high oxygen partial pressure.
• High-output cardiac failure occurs in some patients with
progressive disease, a reflection of its high blood flow.

54. • Similar to Klippel-Trénaunay syndrome, a common imaging
finding of Parkes Weber syndrome is hemihypertrophy
resulting from outgrowth of soft tissues in the affected limb
and overgrowth of bone tissues.
• At angiography, CT angiography, and MR angiography, pale
arteriovenous fistula–like stains are seen in the periarticular
region, a finding not seen in patients with Klippel-Trénaunay
syndrome.

55. (a)Radiographshowsleftsidedhemihypertrophy(arrows)andovergrowth
ofthelongbones(arrowheads).(b)CoronalT2-weightedfatsaturatedMR
imageshowsareasofhyperintensity(arrows)inthesofttissues,afinding
indicativeofavascularmalformation

56. Coronalcontrast-enhancedT1-weightedfatsaturatedMRimageshowsthat
thevascularmalformationdemonstratescontrastenhancement(arrows).(d)
Coronalcontrast-enhancedmaximum-intensityprojectionCTimageshows
multiplearteriovenousshunts(arrows)aroundthekneeandankleinthe
affectedlimb

57. OSLER-RENDU-WEBER
SYNDROME
• Osler-Weber-Rendu disease (OWRD) is a rare autosomal
dominant disorder characterized by dilatation of small skin
and mucosal blood vessels, which leads to epistaxis and
hemorrhage into the digestive tract.
• HHT (HEREDITARY HEMORRHAGIC TELANGIECTASIA)is
manifested by mucocutaneous telangiectases
and arteriovenous malformations.
• Lesions can affect the nasopharynx, central nervous system ,
lung, liver, and spleen, as well as the urinary tract,
gastrointestinal tract, conjunctiva, trunk, arms, and fingers.

58. • Recurrent and severe epistaxis is the most common
presentation, frequently leading to severe anemia that
necessitates transfusion.
• GI bleeding is also prevalent.
• Symptom onset may be delayed until the fourth decade of life
(~90% of patients manifest by age 40 years) or later.

59. • The estimated frequency of
manifestations in patients
with HHT is as follows:
• Spontaneous, recurrent
epistaxis - 90%
• Skin telangiectases - 75%
• Hepatic or pulmonary
involvement (arteriovenous
malformations [AVMs]) -
30%
• Gastrointestinal (GI)
bleeding - 15%
• CNS lesions

61. Rendu-Osler-Webersyndromeina76-year-oldwomanwhopresentedwithdyspnea
witheffort.(a)Portablechestradiographshowsbilateralareasofinfiltrativeshadowing
andmarkedcardiomegaly,aresultofcongestiveheartfailure.(b)Axialcontrast-
enhancedCTimageofthechestshowsalargearteriovenousfistula(arrow)intheleft
lowerlobe.(c)Axialcontrast-enhancedCTimageoftheabdomenshowsmultiple
arteriovenousfistulas(arrow)intherightlobeoftheliver.

62. KASABACH MERITT
SYNDROME
• The combination of giant hemangioma, thrombocytopenia,
and consumption coagulopathy is termed Kasabach-Merritt
syndrome (KMS).
• KMS is an infrequent but potentially fatal complication of
rapidly growing vascular lesions in infants.

63. • Signs and symptoms in KMS include the following:
• Visible cutaneous giant hemangioma or multiple smaller
hemangiomas, usually on the extremities
• Enlarged abdomen
• Hepatomegaly or jaundice
• Petechiae, bruising, and frank bleeding
• Painful lesions
• Anemia

66. • Physical findings may include the following:
• Cutaneous hemangioma, often appearing as a large irregular
bruise anywhere on the body and often circumscribed by
widespread, overlying, shiny and dusky, purple skin
• Kaposiform hemangioendothelioma (KHE) or tufted angioma
(TA) - Blue or reddish-brown discoloration and skin induration
• Petechiae and bruising

67. • Painful, tender lesions
• Bleeding from thrombocytopenia and coagulopathy (locally
and, at times, distantly [disseminated intravascular
coagulation (DIC)])
• Tachycardia, feeding difficulty, and shock (signs of high-output
cardiac failure)
• Pallor (suggestive of anemia)

68. COBB SYNDROME
• In Cobb syndrome (SAMS), cutaneous vascular malformations
are seen at a level lower than that of an arteriovenous
malformation or fistula involving the spinal cord because, with
growth, the spinal cord becomes relatively shorter than the
spinal canal .
• In other words, arteriovenous malformations or fistulas of the
spinal cord that manifest at the same level in the fetal period
as cutaneous vascular malformations move upward .

69. • The major imaging finding of vascular metameric syndrome is
an arteriovenous malformation or fistula in the cerebrospinal
area or the head and neck region.
• Attention should be paid to infantile hemangiomas or
vascular malformations that are located in the midline,
because spinal cord anomalies may also develop. Spinal MR
imaging is indicated in such cases.

70. • Cobb syndrome in a 19-month-
old girl who presented with a
history of sacrococcygeal vascular
skin malformations since birth.
(a) Sagittal T2-weighted fat-
saturated MR image of the spine
shows syringomyelia
(arrowheads) and an
arteriovenous fistula (arrows)
associated with a spinal lipoma.
(b) Sagittal contrast-enhanced
multiplanar reformatted CT
image obtained in the early
phase shows the arteriovenous
fistula (arrows) and spinal lipoma
(arrowheads) in the lumbosacral
region. The level of the
arteriovenous fistula is higher
than that of the vascular skin
malformation.

71. VON HIPPEL LINDAU
SYNDROME
• a rare genetic disorder with multisystem involvement.
• It is characterized by visceral cysts and benign tumors with
potential for subsequent malignant transformation.
• It is a type of phakomatosis that results from a mutation in
the Von Hippel–Lindau tumor suppressor gene
on chromosome 3p25.3.
• Genetic transmission variable .hemangioma of cerebellum or
retina or cysts of the viscera.

72. • Tumors called hemangioblastomas are characteristic of von
Hippel-Lindau syndrome. These growths are made of newly
formed blood vessels.
• Although they are typically noncancerous, they can cause
serious or life-threatening complications.
• Hemangioblastomas that develop in the brain and spinal cord
can cause headaches, vomiting, weakness, and a loss of
muscle coordination (ataxia).
• Hemangioblastomas can also occur in the light-sensitive tissue
that lines the back of the eye (the retina).
• These tumors, which are also called retinal angiomas, may
cause vision loss.

74. THANK YOU