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]

SAQ 2 (10 marks)

Question: A 3-month-old former premature infant has more than ten small cutaneous haemangiomas scattered over the trunk and limbs, with two larger lesions on the back. (a) What is the diagnosis and what complication must you screen for? (b) Outline the investigation and management. (c) What endocrine complication is associated, and how is the natural history explained to the family? (10 marks) [2]

Model answer

(a) Diagnosis and the complication to screen for (3 marks). The diagnosis is multifocal infantile haemangiomatosis — multiple cutaneous infantile haemangiomas in a former premature infant, the classic risk group. The complication that must be screened for is hepatic (liver) haemangioma, because infants with five or more cutaneous haemangiomas carry a significant risk of liver involvement that may cause high-output cardiac failure. The presence of more than ten cutaneous lesions makes hepatic screening mandatory rather than optional. [2] [11]

(b) Investigation and management (4 marks). Perform a liver ultrasound with Doppler to detect hepatic haemangiomas, and obtain an echocardiogram if any liver lesion is large or if there are signs of high-output cardiac failure (tachycardia, gallop, hepatomegaly, poor feeding). Treat problematic cutaneous lesions with oral propranolol 2 to 3 mg per kg per day as for solitary problematic haemangiomas, with a cardiac check first and family counselling on hypoglycaemia. Small, superficial, non-critical lesions can be observed or treated with topical timolol. Liaise with a specialist vascular-anomalies or paediatric dermatology service, because hepatic involvement may need specialist systemic therapy if haemodynamically significant. [2] [1]

(c) The endocrine complication and counselling the natural history (3 marks). Large or multifocal haemangiomas can cause hypothyroidism because the haemangiomatous tissue expresses type 3 iodothyronine deiodinase, which consumes thyroid hormone; check thyroid function in this infant. Counsel the family that each individual haemangioma follows the same proliferate-then-involutive natural history — rapid growth to around nine to twelve months then slow involution over years — so the aim of treatment is to control the problematic lesions and the hepatic and endocrine complications during the proliferative phase, after which the lesions will involute. [11] [2]