Vascular birthmarks and infantile haemangioma — formative SAQs

SAQ 1 (10 marks)

A 2-month-old female infant is referred with a large, bright-red, raised segmental haemangioma covering the right forehead, cheek and preauricular area, first noticed at three weeks of age and growing rapidly over the last month. She was born at 36 weeks by spontaneous vaginal delivery. She is feeding well and has no stridor. ^[8]

Question: Outline the classification, the syndrome screening required, and the stepwise management of this infant. (10 marks) ^[8]

Model answer

Classification and the fork (2 marks). The lesion is an infantile haemangioma, a proliferating vascular tumour distinguished from a vascular malformation by its absence at birth, its postnatal appearance and rapid proliferation, and its raised strawberry-like morphology. It belongs to the tumour family of the Mulliken and International Society for the Study of Vascular Anomalies classification and is GLUT1 positive. Crucially, its segmental distribution over a large facial territory is the pattern that carries the highest syndrome risk. ^{[8] [11]}

Syndrome screening — PHACE (3 marks). A large or segmental facial haemangioma mandates a PHACE syndrome screen. This comprises brain and neck MRI with MR angiography to detect posterior-fossa malformations and cerebral and cervical arterial anomalies, echocardiography to detect aortic arch and cardiac anomalies (including coarctation), and ophthalmology review for eye anomalies. Prematurity and the segmental facial pattern are the triggers. Until PHACE is excluded, any propranolol initiation needs specialist supervision because of the rare stroke risk from cerebral arterial anomalies during haemodynamic change. ^{[8] [7]}

Stepwise management (3 marks). Because the lesion is large and segmental on the face with permanent-disfigurement risk, this is a problematic haemangioma requiring active treatment, not observation. The first-line systemic therapy is oral propranolol at 2 to 3 mg per kg per day in two or three divided doses, initiated at around 1 mg per kg per day and titrated upward, continued through the proliferative phase to around twelve months of age. A basic cardiac check before starting excludes significant bradycardia, heart block or aortic obstruction. Counsel the family on the hypoglycaemia risk with intercurrent illness and poor feeding, on maintaining feeding during illness, and on recognising the pale or limp infant. ^{[1] [7]}

Disposition, safety-netting and follow-up (2 marks). Refer to a multidisciplinary vascular-anomalies service coordinating dermatology, neurology, cardiology, ophthalmology and neuroradiology. Monitor for ulceration, periocular involvement and airway compromise, because segmental facial lesions carry airway risk even without stridor at presentation. Review response to propranolol and the PHACE workup, and plan for any cosmetic residue after involution. ^{[8] [11]}