Neonatal skin disorders and birthmarks — case

Candidate brief

You are the general paediatric registrar in clinic. Mrs A brings her 10-week-old daughter, Mia, who has a large red mark over the right side of the face that appeared at two weeks and has grown steadily. The family doctor diagnosed an infantile haemangioma and referred for a plan. Mia feeds and grows normally, but Mrs A is distressed about the appearance and frightened it will not go away. Take a focused history, examine, present your synthesis, and outline your management and counselling. [4]

The encounter

History. [4]

Mia is a term, vaginal-delivery infant born to a 34-year-old mother with pre-eclampsia. The lesion was absent at birth, appeared at two weeks, and has enlarged rapidly. No stridor, no feeding difficulty, no other lesions, and no family history of vascular anomalies. [4]

Examination. [4]

A large, segmental, bright-red lobulated plaque covers the right cheek, the right side of the nose and extends toward the right upper eyelid, measuring roughly 7 cm. It blanches partially. There is no proptosis and the visual axis is clear, no cutaneous lesions elsewhere, and the cardiovascular and respiratory examination is normal with no murmur. [4]

Marking domains

1. Problem representation and classification (15 marks)

Synthesise the case as a large segmental facial infantile haemangioma over 5 cm in a 10-week-old in the proliferative phase. [4] Classify it using the Mulliken–Glowacki framework as a vascular tumour (absent at birth, proliferative, will involute), distinct from a vascular malformation. [1]

2. Recognition of syndromic risk (20 marks)

Identify that a segmental facial haemangioma over 5 cm carries a risk of PHACE syndrome. [8] State the components — Posterior fossa malformation, Haemangioma, Arterial cerebrovascular anomalies, Cardiac coarctation, Eye anomalies — and order the work-up of brain MRI/MRA, echocardiogram and aortic-arch imaging, and ophthalmology. [8]

3. Management plan (25 marks)

Start oral propranolol in divided doses titrated to the standard weight-based target to arrest proliferation, given the segmental facial distribution and the approach to the eyelid. [4] [5] Obtain baseline heart rate, blood pressure and feeding assessment, exclude contraindications such as clinically significant bradycardia, heart block and reactive airway disease, and arrange ophthalmology review for any visual-axis threat. [5]

4. Counselling and safety-netting (20 marks)

Explain the natural history — the lesion will continue to grow for some months, then involute over years — and the propranolol rationale, including the silent-hypoglycaemia risk with explicit sick-day rules to hold the dose and seek review during intercurrent illness. [5] Address the family's distress about appearance honestly, offer written information and a support pathway, and arrange a clear follow-up. [4]

5. Follow-up and disposition (10 marks)

Photograph and measure at each visit, monitor propranolol tolerability, wean at 12 to 18 months, and refer any residual skin change for later laser or surgical review. [4]

6. Communication skills (10 marks)

Use the child's name, lead with the plan, invite questions, check understanding, and give a written summary and a contact pathway. [4]

Examiner notes

A strong candidate reaches the PHACE risk unprompted, gives the propranolol dose and the silent-hypoglycaemia counselling, and balances honesty about appearance and prognosis with genuine reassurance. [8] A weak candidate treats the lesion as a simple small haemangioma, omits the PHACE work-up, or fails to counsel on propranolol sick-day rules. [4]