Seminar
Dermatology society
1/11/1394
Isfahan University of medical sciences
Gita Faghihi
Professor of dermatology
Venous capillay malformations
Venous malformations
Venous malformations :either
superficial or deep veins that are
abnormally formed and dilated.
usually present at birth.Both
sexes equal
manifest clinically in infancy,
childhood. no regression
Depending on their location,
they may become symptomatic
Venous malformations
The following cellular characteristics are
important to remember:
• Flat endothelium, slow turnover
• Normal mast cell count
• Dysplastic walls
• Thin basement membranes
• No expression of vascular endothelial growth factor (VEGF) or basic
fibroblast growth factor (bFGF)
• Low urinary bFGF
Clinically :
• The closer these vessels are to the
surface, the deeper the color. A
superficial lesion thus tends to be
maroon-red, whereas a deep lesion may
show a bluish hue. A very deep lesion
may have no color, but just reveal itself as
a protruding mass
• lesions can be emptied by compression
or in the upright position
symptoms related to :
• mass effect / or
• stasis
Natural history
• slow, steady enlargement.
• events such as surgery,
trauma, infection, or
hormonal changes
associated with puberty,
pregnancy or menopause
may cause rapid
expansion.
• These lesions may be
present in the skin,
mucous membrane or in
any organ (brain, bowel,
liver, or spleen…)
Diagnosis
confirmed by :
Ultrasonography
Evaluating the extent of a lesion may be done by:
magnetic resonance imaging (MRI).
They are usually solitary
isolated events
but may occur in multiple
areas.
• If they are present in multiple
areas,
• take a family history, because
autosomal dominant
Complications:
• Thromboses : ( associated with large venous
malformations).
• Large or multiple venous malformations can be associated
:with coagulopathy abnormalities that increase the risk of
bleeding
• Recurrence is a common complication of therapy.
Patients with Turner syndrome may have venous
malformations of the intestine and feet.
• Another rare dominant form is represented by the familial cutaneousmucosal venous malformation.
• Cerebral cavernous venous malformations could also be familial.
Vascular
ectasia in the
ascending
colon in a
patient with
Turner
syndrome
Maffucci syndrome
• is a rare developmental disorder
characterized by:
• multiple enchondromas
associated with
• subcutaneous
hemangioendothelioma of the
distal extremities.
Maffucci's syndrome
• coexistence of venous malformations and multiple
enchondromas
• The child appears normal at birth, but before puberty, a hard
nodule (small, localized outgrowth) appears most commonly on
a finger or toe.
• This is soon followed by other nodules that involve the
extremities and limbs.
• Dilated veins and soft bluish tumors occur in the affected limbs
and elsewhere, and fracture of one or more bones often
follows a minor injury.
• Healing is slow and unsatisfactory, resulting in other
deformities that increase throughout childhood.
• Malignant (cancerous) degeneration of masses of tumor
growth can occur.
• Diagnosis is made by clinical examination and X-rays.
• Multiple cosmetic and reconstructive operations are necessary.
• Because of the risk of malignancy, ongoing radiographic (X-ray)
assessment as well as biopsy of lesions that enlarge rapidly or
cause symptoms are necessary.
As well as appearing
on the skin, VMs can
occur
• in the mucous membranes,
such as the
• eyelids or
• inside the mouth, in
• muscles or
• internal organs.
Blue rubber bleb nevus syndrome
• This is characterized by : multiple
rubbery blue lesions over the skin
(trunk, limbs).
• Lesions also can be internal and
are seen mostly in the GI tract
(stomach and intestines) ,can
cause severe GI bleeding and
abdominal pain.
• These lesions have a lymphatic
component.
Blue Rubber Bleb Nevus Syndrome
Klippel-Trenaunay Syndrome.
• association of a capillary malformation with a
venous and a lymphatic malformation.
• The birthmark tends to be small or patchy
• The lymphatic malformation can contain large
cysts (macrocystic) or clusters of smaller ones
(microcystic).
• The affected limb is bulkier than the other side,
and sometimes longer.
• The syndrome can be complicated by
(thrombophlebitis),, infections (cellulitis),
ulceration and bleeding.
Klippel-Trenaunay
syndrome
Note unilateral enlargement of
one leg and capillary
malformation with lymphatic
vesicles and venous
malformations .
Klippel-Trenaunay syndrome
Combined capillary, lymphatic,
and venous malformation.
Involvement of the right leg with
extremely increased girth, axial
overgrowth, and macrodactyly.
The cutaneous capillary
malformation is studded with
lymphatic vesicles.
localized intravascular coagulopathy
• The likelihood of occurring such in venous
malformations is greater in patients in whom:
• such lesions, as seen on magnetic resonance
imaging (MRI), are larger,
• have visualized phleboliths,
• are located on the trunk rather than the
extremities, and
• have a spongiform morphology.
Such characteristics suggest that coagulopathy is
related to larger capacitance, slower flow, and
reduced physiologic compression in these
malformations.
Diagnostics:
elevated D-dimer level as the first biomarker of
venous malformations within vascular anomalies
Duplex ultrasound is the best examination to
confirm slow-flow, to identify the anatomy of
feeding vessels and to offer a graphic visual
demonstration of vascularity.
MRI imaging with spin-echo T1 and T2weighted sequences is the gold standard for
pre therapeutic evaluation of VMs
Outcome and Prognosis
• related to the size and location of the venous malformation.
The likelihood of significant perioperative morbidity and recurrence
increases :
• with more diffuse malformations
• malformations intimately involving vital neurovascular structures.
Capillary
malformation
(portwine stain)
Capillary malformation
(portwine stain)
• Capillary malformation is
diagnosed at birth as a red
stain that grows with the
child.
• Facial port wine stain can, in
some instances, be
responsible for epilepsy and
glaucoma (Sturge-Weber
syndrome).
Sturge-Weber syndrome
• encephalotrigeminal angiomatosis.
• It is the association of capillary
malformation affecting the skin supplied by
one branch of the trigeminal nerve of the
face with defects in the underlying tissues.
• These may result in a shrunken brain,
calcification inside the skull, seizures,
meningeal angioma and eye abnormalities
(glaucoma, optic atrophy).
Diagnosis :
• Capillary malformations are usually diagnosed clinically and no
investigations are necessary for the majority of flat lesions.
• However, when there is uncertainty about the diagnosis or
whether underlying tissues are affected, an ultrasound is often
performed.
• Characteristically, a vascular malformation shows blood vessels
set in normal background tissue.
• In more complicated cases it may be necessary to perform
Magnetic Resonance Imaging (MRI) or angiography to help plan
treatment.
Histology of capillary malformation
vessels with a single layer of endothelial cells containing
erythrocytes.
Sturge-Weber
syndrome
Unilateral
involvement
Congenital glaucoma in sturge weber syn
Sturge-Weber
syndrome
Bilateral
involvement.
Note extension
onto the neck
and chest.
Sturge-Weber syndrome
Capillary malformation of the face, chest, back,
buttocks, arms, and legs.
This patient has only Sturge-Weber syndrome.
She does not have Sturge-Weber syndrome
with Klippel-Trenaunay syndrome.
There are capillary malformations only.
For Klippel-Trenaunay syndrome, additional
features include lymphatic malformations,
lymphatic vesicles, venous malformations of
the lower limb, venous flares, and
enlargement of a lower limb often involving
the toes.
The end