Paeds · paediatric-dermatology
Vascular birthmarks and infantile haemangioma
Also known as Infantile haemangioma · Strawberry naevus · Port-wine stain · Capillary malformation · Salmon patch · PHACE syndrome · Sturge-Weber syndrome · Vascular anomaly
Fellowship topic on vascular birthmarks and infantile haemangioma: the ISSVA split of vascular anomalies into proliferating tumours (infantile haemangioma, congenital haemangiomas, kaposiform haemangioendothelioma) and structural malformations (capillary, venous, lymphatic, arteriovenous and combined); the GLUT1-positive endothelial-proliferation biology of infantile haemangioma and its proliferate-then-involutive natural history; the segmental-haemangioma syndromes PHACE and LUMBAR and their screening; the GNAQ somatic-mosaic biology of port-wine stain and Sturge-Weber syndrome; propranolol 2 to 3 mg per kg per day as first-line therapy for problematic infantile haemangioma with topical timolol for small superficial lesions; pulsed-dye laser for port-wine stain; the Kasabach-Merritt phenomenon of kaposiform haemangioendothelioma; and ANZ, UK, US and Canada guidance.
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Target exams
Red flags
- A large or segmental facial infantile haemangioma in a young infant — screen for PHACE syndrome with brain and neck MRI and MRA, echocardiography and ophthalmology review
- A midline lumbosacral or perineal infantile haemangioma with another skin marker — screen for occult spinal dysraphism (LUMBAR syndrome) with spinal ultrasound or MRI
- Five or more cutaneous infantile haemangiomas — screen the liver with ultrasound for hepatic haemangiomas that may cause high-output cardiac failure and hypothyroidism
- A rapidly enlarging, firm, purpuric vascular tumour with bruising and thrombocytopenia — kaposiform haemangioendothelioma with Kasabach-Merritt phenomenon; refer urgently
- An airway haemangioma in an infant with worsening stridor, worse on crying or exertion — subglottic infantile haemangioma; assess and secure the airway and start systemic beta-blocker therapy
- A facial port-wine stain in the forehead or upper eyelid distribution — screen for Sturge-Weber syndrome (leptomeningeal angioma, seizures, glaucoma)
Life stages
Care settings
Clinical exam formats
Board mappings
- General Paediatrics and Dermatology: infantile haemangioma — recognition, natural history and propranolol; vascular malformations and port-wine stain
- Neurology and cardiology: segmental-haemangioma syndromes (PHACE) and Sturge-Weber screening
- Renewed curriculum — Dermatology and multisystem disease: the ISSVA classification and the proliferate-versus-malformation distinction
- Population and complex care: multidisciplinary management of large and syndromic vascular anomalies
- General Paediatrics: recognition of infantile haemangioma, the timing of propranolol, and the red flags mandating investigation
- Dermatology and neonatology: the vascular-birthmark differential in a neonate or young infant
- Long Case / Structured discussion: an infant with a large facial haemangioma — classification, PHACE screening, propranolol and complications
- Communication station: explaining propranolol therapy, its risks and the natural history to a family
- Level 2 / 3 — Dermatology and Neonatology: vascular birthmarks, infantile haemangioma and vascular malformations
- Neurodevelopment and disability: Sturge-Weber and PHACE syndrome and their developmental surveillance
- Foundation of Practice (FOP): the strawberry naevus, salmon patch and port-wine stain and their natural history
- Applied Knowledge in Practice (AKP): propranolol therapy, segmental-haemangioma syndromes and the Kasabach-Merritt phenomenon
- History-taking and management: an infant with a rapidly growing haemangioma and the decision to treat
- Communication: explaining propranolol, its adverse effects and the safety-netting to a family
- General Pediatrics Content Outline — infantile haemangioma and vascular birthmarks: diagnosis, propranolol and referral
- Dermatology and Cardiology: PHACE syndrome screening and vascular malformations
- Patient Care: recognition, risk-stratification and stepwise management of infantile haemangioma and vascular malformations
- Medical Knowledge: the ISSVA classification, GLUT1 biology, GNAQ and the pharmacology of beta-blocker therapy
- Systems-Based Practice: multidisciplinary referral for large, segmental and syndromic vascular anomalies
- Medical Expert: vascular birthmarks and infantile haemangioma diagnosis, propranolol and complications
- Collaborator and Health Advocate: coordination of multidisciplinary care and equitable access to laser and specialist services
- Communicator: explaining natural history, treatment and safety-netting to families
Two families, one red birthmark
Vascular tumour (infantile haemangioma)
Vascular malformation (port-wine stain)
Ask two questions of any red birthmark. Did it grow after birth, and will it shrink? If it proliferated and will involute, it is a vascular tumour (infantile haemangioma). Was it fully formed at birth and does it grow only with the child? Then it is a vascular malformation (port-wine stain). The first has proliferating endothelium and is GLUT1 positive; the second is a static structural error. Treatment follows the answer: propranolol for the tumour, laser and multidisciplinary care for the malformation. [6] [5]
Overview & Definition
Picture a six-week-old brought to the clinic because a bright red lump has appeared on the cheek over three weeks, growing faster than anything the parents have seen. They have been told it is a birthmark, but it was not there at birth. This is the everyday face of infantile haemangioma, the commonest tumour of infancy, and the question on every parent's mind — will it go away, and does it need treatment — is exactly question clinician must answer with confidence. [2] [11]
Vascular birthmarks are visible anomalies of blood or lymphatic vessels present in or appearing soon after infancy. They are not one disease. The Mulliken and Glowacki classification, refined into the living International Society for the Study of Vascular Anomalies framework, separates them into two families by cellular behaviour. Vascular tumours arise from endothelial proliferation: the prototype is infantile haemangioma, joined by the congenital haemangiomas and the rarer kaposiform haemangioendothelioma. Vascular malformations are errors of vessel morphogenesis — capillary, venous, lymphatic, arteriovenous, or combinations — present at birth and expanding only in proportion to the child. [5] [6]
The clinician's task has three layers. The first is to name the lesion correctly, because calling a malformation a haemangioma (or vice versa) sends management down the wrong road. The second is to find the lesions that are not harmless — the ones that threaten the airway or the eye, the large and segmental lesions that hide a syndrome, and the multifocal lesions that hide hepatic disease. The third is to treat at the right time: propranolol works in the proliferative phase, so recognising the problematic lesion early is what changes the outcome. [2] [1]
References12ShowHide
- [1]Léauté-Labrèze C; Dumas de la Roque E; Hubiche T; Boralevi F; et al Propranolol for severe hemangiomas of infancy. N Engl J Med, 2008.PMID 18550886
- [2]Krowchuk DP; Frieden IJ; Mancini AJ; Darrow DH; et al Clinical Practice Guideline for the Management of Infantile Hemangiomas. Pediatrics, 2019.PMID 30584062
- [3]Novoa M; Baselga E; Beltran S; Giraldo L; et al Interventions for infantile haemangiomas of the skin. Cochrane Database Syst Rev, 2018.PMID 29667726
- [4]Shirley MD; Tang H; Gallione CJ; Baugher JD; et al Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med, 2013.PMID 23656586
- [5]Mulliken JB; Glowacki J Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg, 1982.PMID 7063565
- [6]Wassef M; Blei F; Adams D; Alomari A; et al Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics, 2015.PMID 26055853
- [7]Drolet BA; Frommelt PC; Chamlin SL; Haggstrom A; et al Initiation and use of propranolol for infantile hemangioma: report of a consensus conference. Pediatrics, 2013.PMID 23266923
- [8]Garzon MC; Epstein LG; Heyer GL; Frommelt PC; et al PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr, 2016.PMID 27659028
- [9]Metry D; Heyer G; Hess C; Garzon M; et al Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics, 2009.PMID 19858157
- [10]Muñoz-Garza FZ; Ríos M; Roé-Crespo E; Bernabeu-Wittel J; et al Efficacy and Safety of Topical Timolol for the Treatment of Infantile Hemangioma in the Early Proliferative Stage: A Randomized Clinical Trial. JAMA Dermatol, 2021.PMID 33825828
- [11]Sebaratnam DF; Rodríguez Bandera AL; Wong LF; Wargon O Infantile hemangioma. Part 2: Management. J Am Acad Dermatol, 2021.PMID 34419523
- [12]Schumacher WE; Drolet BA; Maheshwari M; Horii KA; et al Spinal dysraphism associated with the cutaneous lumbosacral infantile hemangioma: a neuroradiological review. Pediatr Radiol, 2012.PMID 22138893