This document provides information on various types of vascular malformations, including capillary malformations, venous malformations, lymphatic malformations, and arteriovenous malformations. It describes the pathogenesis, clinical presentation, diagnosis, differential diagnosis, complications and treatment options for each type of malformation. Doppler ultrasound and MRI are important diagnostic tools. Surgical resection following embolization is the main treatment for arteriovenous malformations, while lasers, sclerotherapy and compression are options for other types. Genetic testing can help identify inherited conditions associated with certain malformations.

1. VASCULAR
MALFORMATIONS
- USHA CHANDRA
DEPT. OF
DERMATOLOGY

2. VASCULAR ANOMALY

4. VASCULAR MALFORMATION
 DEVELOPMENTAL ERRORS OF VESSELS
DURING 4TH - 10TH WEEK OF INTRAUTERINE
LIFE.
 MOSTLY SPORADIC AND CONGENITAL.
 PREVELENCE 0.3%.
 WELL DEMARCATED AND LOCALISED.
 DOPPLER ULTRASOUND IS BEST NON
INVASIVE RADIOLOGIC INVESTIGATION.

5. VASCULAR MALFORMATION
 SLOW FLOW-
CAPILLARY, LYMPHATIC, VENOUS,
COMBINED.
 FAST FLOW-
ARTERIAL, ARTERIOVENOUS AND
COMBINED.

6. CAPILLARY MALFORMATION
 Port wine stain.
 Incidence - 0.3%.
 Mainly sporadic, autosomal dominant.
Nape of neck( 81%) , eyelids (45%) ,
glabella (33%). Mainly along trigeminal
nerve .
 Clonal expansion of abnormal neural crest
cell(facial), RASA1 in CM-AVM.

7. Clinically presented as pinkish red to purple
color.
Tend to darken and thicken with time.
Mostly unilateral, may extend.
Geographical border.
Involve skin , sub cutis, mucous.

8.  Histopathology shows dilatation of normal
number of capillaries of dermis with areas
of increased number of normal looking
capillaries.

9. DIFFERENTIAL DIAGNOSIS
Unna nevus(pinkish occiput patch)
Nevus flammeus neonatorum
Salmon patch
Angel’s kiss
CM OF CM-AVM, AVM,AVF.
Cutis marmorata telangiectasia congenita
Hereditary hemorrhagic telangiectasia
Mastocytosis.
Tufted angioma.
Ataxia telengietasia

10. TREATMENT
 Laser (gold standard)
 Pulse dye laser(585nm), short pulse
duration.
 Electro coagulation
 Tattooing.
 Cryosurgery.

11. STURGE- WEBER SYNDROME
 Neuro-oculocutaneus syndrome.
 Homolateral leptomeningeal capillary
venous malformation(parieto-occiputal)
 Choroid “angioma” buphthalmous, retinal
detachment.
 Complications epilepsy, cerebral atrophy,
mental retardation
 Brain MRI and ophthalmic examination.

12. PHAKOMATOSIS
PIGMENTOVASCULARIS
 Phakomatoses -neurocutaneous disorders
of embryonic ectoderm structures (CNS, skin
and eyes). Other organs may involved.
 Mostly on trunk.
 Pigmented cutaneous lesions such as
atypical mongolian spot ,nevus spilus, a
café–au–lait patch.
 Associated systemic, visceral, muscular,
neurological ,ocular.

13. KLIPPEL TRENAUNAY
SYNDROME
 Capillary- lymphaticovenous malformations.
 Associated with hypertrophy of affected
limbs.
 Lateral side of leg, common and
specific(80%).
 Due to persistence of embryological veins
with valvular incompetence of deep venous
system.
 Ulceration,bleeding,oozing is common.
 Complications – protein loosing enteropathy,

15. VENOUS MALFORMATION
 Most common malformation referred to
specialised center.
 Mainly sporadic , 6% inherited.
 Present at birth reaches maximum by 20
years.
 Diagnosed early due to visibility
 Skin , mucosa commonly involved, sub
cutis muscle, bones and nerves or any
organ involved.
 50% cervico facial area and 37 % on
extrimeties.

16.  Solitary/multifocal.
 Variable size
 Light – dark bluish
 Emptied by
compression
 Temperature
normal.
 No briut / thrill
 Not tender unless
phlebolith.

17.  Facial asymmetrical, dental malignancy,
migraine (temporal muscle)
 Pharyngeal or laryngeal location  snoring
sleep apnea.
 Other muscle weakness,
hyper/hypotrophy leg length discrepancy
,intra articular bleeding, dyspareunia
 Never cause pulmonary embolism

18. PATHOGENESIS
 Somatic mutation in tyrosine kinase
domain of angiopoietin receptor tie2 gain
in function  phosphorylation of receptor.
 Inherited- R849W mutation.
 Genetically GVM is due to loss of function in
glomulin gene (? 1p21), but expressitivity of
mutation varies.

19. HISTOLOGY
 Vascular malformation- ectatic venous
vascular channel with flat endothelium and
thin walled due to variable no. Of mural
muscle cell (stain positive for alfha actin).
 Glomuvenous malformation- distended
venous chennel surrounded by mural glomus
cell (round and polygonal, stain positive for
smooth muscle alpha actin amd vimentin and
negative for desmin, vwf and s100) of
abberent smooth muscle cell.

20. DIFFERENTIAL DIAGNOSIS
 Infantile hemangioma/ lymphatic
malformation(non compressible)
 Maffucci syndrome
 Normal prominent vein
 Sinus pericranii
 Underlying galen malformation
 Solitary glomus tumour
 Rule out—
 Deep venous insufficiency, iatrogenic
stenosis, thyroglossal duct, bronchogenic
cyst.

21. LYMPHATIC MALFORMATION
 Unknown incidence and etiology
 Diagnosed- 1st trimester - before 2 years of
age.
 Micro cystic (face) – Macro cystic (neck ,
axilla, chest , groin)
 Macro cystic >2 cms in diameter; the micro
cystic made up of smaller cysts or soft tissue
enlargement without cyst formation.
 Sporadic, rarely inherited

22. PATHOGENESIS
Loss of phosphorylation in VEGFR3(Milroy
disease).
Loss of functional mutation in FOXC2
(lymphedema distichiasis).
Autosomal/recessive inheritance of SOX18
mutation in hypotrichosis lymph edema
telangiectasia

23. CLINICAL FINDING
 Microcyst( lymphangioma circumscriptum )
 Macrocyst (cystic hygroma) well define soft ,
multilobulated

 Skin can be normal/bluish discoloration.
 Facial asymmetry(microcystic) , ocular
dystopia, exopthalmia, halitosis, speech
impairment ,air obstruction,
elephantisis.chylothorax.

24. HISTOLOGY

25. Angiokeratomas
 are a group of vascular ectasias that
involve the papillary dermis and may
produce papillomatosis, acanthosis, and
hyperkeratosis of the epidermis.
 Angiokeratoma circumscriptum- capillary
lymphatic malformation, well demarcated
,pink to bluish red lesions on extremities.
 Usually hyperkeratotic.

26.  Angiokeratoma circumscriptum- capillary
lymphatic malformation, well demarcated
,pink to bluish red lesions on extremities.
 Usually hyperkeratotic

27. Angiokeratoma of
mibelli -
circumscribed ,
dark-red
hyperkeratotic
plaque on distil
extrimities.
Angiokeratoma of
fordyce-
hyperkeratotic , blue
black papule on
scrotum.

28.  GORHAM STOUT SYNDROME/
VANISHING BONE DISEASE-
Demineralised and destructive bone replace
by lymphatic vessel and capillaries.
 Congenital lymphedema/milroy disease-
Dorsum of feet swelling(bilateral)
Family history .
Associated features- hydrocele ,prominent
vein, up slanting toe nail ,papillomatosis,
cellulites.
VEGFR3 associated with lethal fetal

29. DIFFERENTIAL DIAGNOSIS
 Fibro/rhabdomyosarcoma
 Infantile hemangioma
 Venous malformation
 Teratoma
 Aquired lymphangiectasia due to
radiotherepy/ Crohn disease

30. COMPLICATION
 Recurrent cellulitis
 Suddenly enlarge in response to fever ,
cough, infections
 Septicemia.
TREATMENT
 Best treated with elastic stokings,
pneumatic compression

31.  Cellulitis can be monitored with prolong
antibiotic, pain medications
 Immune modifying medication are not
effective.
 ND-YAG LASER, CO2 laser
 Macrocyst aspiration intralesional
injection of sclerosing agent(stds, pure
ethanol, OK432 , doxycycline, bleomycin.

32. ARTERIOVENOUS MALFORMATION
 Rare occurrence and most difficult to treat.
 Fast flow.
 70% head and neck.
 Characterized by presence of “nidus”
 Histologically consist of distorted arteries
and veinwith thickened muscle wall due to
av shunting and fibrosis.

33.  Warm ,Ill define , Faint , macular red
stain , with thrill/bruit, pulsation of
increased amplitude.
 Cutaneous, red to purple mass
 Mistaken for hemangioma
 1/3 birth, 1/3 rd childhood, 1/3 adult.
 Triggered by trauma and adulthood

34. Stage 2 evolving in stage 3

36.  CM-AVM-
Multiple atypical CM associated with fast flow
in 18% to 20 % of AVM, AVF, Parkes Weber
syndrome.
Small asymptomatic to life threatening.
Well circumscribed, pink-red-brown
blanchable.
Associated with RASA 1 mutation.
Invovle skin, mucous, bone.

37.  HEREDITARY HEMORRHAGIC
TELENGIECTASIA-
 Autosomal dominant.
 Multiple muco- cutaneous telengiectasia
associated with visceral, pulmonary, and
cerebral fast flow lesion.
 Thalidomide successfully used to reduce
frequency and duration of epitaxis.
 .

38. PTEN HAMARTOMA TUMOR SYNDROME—
Typically macrocephaly, penile freckling.
Development venous anomaly in brain, fast
flow vascular malformation, ectopic fat
deposition.
Increased risk of malignancy

39. PARKES WEBER SYNDROME-
Large, congenital,cutaneous,vascularstainon
extrimitiesinassociationwithsofttissueandskeleton
hypertrophyofaffectedlimb.
Treatmentisconservative
BONNET-DECHAUME-BLANCORWYBURN-
MASONSYNDROME-
 Sporadic syndromic AVM, locatedincentrofacial/
hemifacialwithoculo-orbitalandcerebralinvolvement.

40. COBB SYNDROME- CUTANEOUS AND
SPINAL CORD AVM-
Manifest in childhood with neurological
complication.
Associated cutaneous, neurology

41. TREATMENT
 Goal is to obliteration and complete
removal of nidus
 Elastic stockings stablise lesion.
 Early intervention should be considere only
if complete resection is possible.
 Surgical resection done after embolisation,
, needs widely excised.
 5 year follow up by annual doppler usg./
Mri .

42.  THANK YOU