KEY NOTES CHAPTER 2: SKIN AND SOFT TISSUE LESIONS: Vascular anomalies. Flashcards
What are the different vascular tumours?
Benign • Infantile haemangioma • Congenital haemangioma • Tufted angioma • Spindle-cell haemangioma • Epithelioid haemangioma • Pyogenic granuloma.
Locally aggressive or borderline • Kaposiform haemangioendothelioma • Retiform haemangioendothelioma • Papillary intralymphatic angioendothelioma • Composite haemangioendothelioma • Kaposi sarcoma.
Malignant
• Angiosarcoma
• Epithelioid haemangioendothelioma.
How do you classify vascular anomalies?
The 2014 International Society for the Study of Vascular Anomalies (ISSVA) classification (based on original work by Mulliken and Glowacki).
- VASCULAR TUMOURS
- VASCULAR MALFORMATIONS
How are vascular malformations classified?
Simple • Capillary malformations • Lymphatic malformations • Venous malformations • Arteriovenous malformations∗ • Arteriovenous fistula.∗
Combined • Capillary venous malformation • Capillary lymphatic malformation • Lymphatic venous malformation • Capillary lymphatic venous malformation • Capillary arteriovenous malformation∗ • Capillary lymphatic arteriovenous malformation∗ • Others.
- high flow
How can vascular malformations also be classified?
Of major named vessels • Anomalies of: ∘ Origin ∘ Course ∘ Number ∘ Length ∘ Diameter (aplasia, hypoplasia, stenosis, ectasia/aneurysm) ∘ Valves ∘ Communication (arteriovenous fistula) ∘ Persistence (of embryonal vessel).
Associated with other anomalies • Klippel-Trénaunay syndrome • Parkes-Weber syndrome • Sturge-Weber syndrome • Others.
How is classification useful?
∘ Diagnosis
∘ Planning
∘ Management
∘ Predicting future behaviour of lesions.
What do you know about infantile haemangiomas?
- Most common tumour of infancy.
- Incidence: 10% in white infants; 23% in premature babies with low birthweight (<1kg).
- Male:female ratio 1:3.
- Approximately 80% focal, 20% multifocal.
- 60% in the head and neck.
How can you classify infantile haemangiomas?
By pattern or type.
1. Pattern • Focal • Multifocal • Segmental • Indeterminate.
2. Type • Superficial • Deep • Mixed (superficial and deep) • Reticular/abortive/minimal growth • Others.
What are the possible causes of infantile haemangiomas?
∘ PLACENTAL EMBOLISATION, evidenced by expression of GLUT1 and other placental antigens.
∘ MUTATION IN AN ENDOTHELIAL CELL leading to clonal expansion.
∘ GERMLINE MUTATION, evidenced by hereditary transmission.
What is the pathogenesis of infantile haemangiomas?
• ‘Herald patch’ may be noticed at birth, most appear at 2wks; later for deep-seated tumours (2-4mths).
PROLIFERATING STAGE (duration 6-8 months). • Raised, bosselated, deep red, blue hue if deep-seated. • Rapidly dividing endothelial cells form tightly packed sinusoidal channels. • Increased vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) upregulates angiogenesis.
INVOLUTING STAGE (duration 5-10 years).
• Red fades, pale patches develop within lesion.
• Regression, decreased endothelial cell activity, luminal enlargement.
• Fibrous tissue, mast cells, fibroblasts, macrophages.
• Increased tissue inhibitor of metalloproteinase (TIMP)-1 suppresses angiogenesis.
INVOLUTED PHASE
• 50% involuted by 5 years of age, 60% by 6, 100% by 10 - 12.
• Sparse capillaries and veins with multilaminated basement membranes.
• Residual loose fibrofatty tissue, stretched, crêpe-like skin (50% cases, skin is near normal).
What syndrome can infantile haemangiomas be associated with?
∘ PHACES association
- Posterior cranial fossa cystic malformations
- Haemangioma on the face, often large and plaque-like
- Arterial anomalies
- Cardiac defects
- Eye anomalies
- Sternal cleft/supraumbilical raphe.
∘ Lumbosacral haemangioma associated with occult spinal dysraphism.
∘ Diffuse perineal haemangioma associated with urogenital/anorectal anomalies.
What complications may be encountered with infantile haemangiomas?
1 Intrinsic to the haemangioma.
2 Due to obstruction of a body orifice.
Intrinsic complications • Ulceration (10%) - painful; can lead to scarring - areas repeatedly traumatised susceptible e.g. perineum. • Infection • Bleeding
Obstructive complications
• Deprivational amblyopia: from visual obstruction.
• Anisometropia: eyes have unequal refractive power from direct pressure on globe, causing deformation or strabismus.
• Airway obstruction (cervicofacial haemangioma): Subglottic lesions: insidious onset biphasic stridor at 6-8 weeks of age.
• External acoustic meatus obstruction: conductive deafness.
What are the indications for starting treatment?
∘ Obstruction of a vital structure
∘ Ulceration or bleeding due to local trauma
∘ Significant distortion and aesthetic considerations.
What are the treatments available for infantile haemangiomas?
Usually non-operative:
- Observation
- Local treatments
- Pharmacological agents.
How are most infantile haemangiomas managed?
- Most haemangiomas are managed with observation alone.
- Spontaneous involution occurs in 85-90%.
- More limited involution may occur at the nasal tip (Cyrano nose) and parotid region.
How do you manage an ulcerated haemangioma?
Bleeding and pain may be distressing to baby and parents.
• Bleeding: gentle direct pressure.
• Analgesics: paracetamol, oral morphine, intranasal diamorphine.
• Topical lignocaine gel
• Hydrocolloid dressing, e.g. DuoDERM to reduce pain.
• Topical antibiotics, e.g. mupirocin or metronidazole ointment.
Tell me about pharmacological agents for the treatment of infantile haemangiomas.
Propranolol Systemic corticosteroids Intralesional corticosteroids Vincristine Interferon α-2a (Imiquimod)
What is the first-line pharmacological treatment?
Propranolol (β-blocker) • Chance discovery in 2008 in two children with cardiopulmonary conditions. • 12 month course usually to avoid rebound growth. • Side effects ∘ Hypoglycaemia ∘ Bronchospasm ∘ Hypotension ∘ Hypothermia.
• Full history, examination, ECG and echocardiogram prior to commencing
treatment.
• Heart rate, blood pressure and blood glucose should be monitored during initiation of treatment.
• Absolute contraindications: ∘ sick sinus syndrome, ∘ 2nd or 3rd-degree heart block. • Relative contraindications: ∘ Impaired cardiac function ∘ Sinus bradycardia ∘ Hypotension ∘ First-degree heart block ∘ Chronic renal insufficiency ∘ PHACES syndrome, where cerebral perfusion can be compromised. • Topical β-blockers, e.g. 0.5% timolol, can be considered for superficial lesions when systemic propranolol is contraindicated
What are the other pharmacological treatments?
Systemic corticosteroids
• Alternative or adjunct to β-blockers.
• Up to 12 months.
• Close monitoring (rebound growth on withdrawl).
• Side effects: ∘ Cushingoid appearance ∘ Irritability ∘ Gastrointestinal upset ∘ Fungal infections ∘ Growth retardation ∘ Hypertension ∘ Adrenal suppression ∘ Immunosuppression - live vaccines should be avoided.
Intralesional corticosteroids
• Best on localised superficial haemangioma.
• Triamcinolone monthly.
Vincristine
• Adjunctive treatment of resistant, life-threatening haemangiomas.
• Inhibits cellular proliferation.
• Joint care with oncologist.
Interferon α-2a
• Used for life-threatening haemangiomas resistant to propranolol and steroids.
• Not usually given concomitantly with steroids.
• Side effects: flu-like illness and spastic diplegia.
Imiquimod
• Not an accepted treatment, but reportedly accelerates involution.
What interventional treatments may be offered?
Surgery
• Not usually required in proliferative phase (excision / debulking only indicated to preserve critical function after failure of all other treatment).
• May be offered at involuted phase for cosmesis.
Laser
• Vascular lasers do not penetrate deeply enough to ablate haemangiomas.
• Can be used for acute ulceration, or residual telangiectasia or baggy skin after involution.
What are congenital haemangiomas?
- Rare vascular tumours; completely formed at birth.
- Do not rapidly proliferate.
• Two main types:
1 Rapidly involuting congenital haemangioma (RICH)
2 Non-involuting congenital haemangioma (NICH).
• Both are GLUT1 negative.
• Large lesions can cause high-output cardiac failure.
∘ Presents on antenatal ultrasound as hydrops fetalis.
- RICH undergoes accelerated regression after a few weeks; usually complete by 14 months.
- NICH does not involute; continues to grow in proportion to child.
What is pyogenic granuloma?
- Acquired lesions composed of proliferative vascular tissue.
- Common on face and hands.
- May arise following seemingly trivial trauma.
- Rapid growth, may bleed, can be confused with cutaneous malignancy.
- Easily treated by curettage or excision.
What is Kasabach-Merritt phenomenon?
• Associated with:
- Kaposiform haemangioendothelioma
- Tufted angioma.
- Described by two paediatricians in 1940.
- Rare, life-threatening condition - mortality rate up to 30%.
- Peak incidence is in early infancy.
- Managed in PICU setting.
• Characterised by:
∘ Enlarging invasive vascular tumour.
∘ Platelet trapping within lesion, leading to profound thrombocytopenia.
∘ Secondary consumptive coagulopathy and hypofibrinogenaemia.
• Risk of spontaneous internal haemorrhage into any body cavity.
What are vascular malformations? How do they differ from vascular tumours?
• Occur due to intrinsic abnormality of development (not tumour).
• Present at birth; generally grow in proportion to body.
∘ Can increase in size after weight gain, trauma or hormonal surges of puberty/pregnancy.
• Causative genes have been identified in some cases.
How can vascular malformations be investigated?
- Gadolinium-enhanced MRI: assesses flow characteristics and extent of involvement.
- CT: intraosseous lesions.
- Conventional angiography: treatment rather than diagnosis.
