SeminarDermatology society

1/11/1394Isfahan 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 positionsymptoms 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 cutaneous-

mucosal 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 syndromeCombined 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.

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.

Diagnostics:

MRI imaging with spin-echo T1 and T2-weighted 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.

vessels with a single layer of endothelial cells containing erythrocytes.

Histology of capillary malformation

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 syndromeCapillary 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