Neonatal skin disorders and birthmarks — formative SAQs

SAQ 1 — A rapidly growing periocular haemangioma (20 marks, 30 minutes)

Stem. A 6-week-old girl is brought by her parents because a "red spot" beside the left eye, first noted at two weeks of age, has grown steadily into a bright-red, lobulated plaque on the upper eyelid that is now beginning to push the eyelid downward. She is feeding and growing normally. Outline your assessment, immediate management, counselling, and follow-up. [4]

Model answer

Problem representation. [4]

A 6-week-old with a proliferating superficial infantile haemangioma of the left upper eyelid — a periocular haemangioma at high risk of visual compromise that warrants urgent intervention. [4]

Assessment. [1]

Confirm the lesion is an infantile haemangioma: absent at birth, proliferative phase, bright-red lobulated "strawberry" plaque. [1] Assess specifically for visual threat — does it block the visual axis (deprivation amblyopia) or distort the globe (astigmatism)? Check for proptosis or anisometropia. [4] Count all cutaneous lesions (five or more triggers hepatic screening) and examine the beard area for airway risk, then measure and photograph the lesion as a baseline. [4]

Immediate management. [4]

Refer to ophthalmology within days for refractive and visual-axis assessment — this is the time-critical step. [4] Start oral propranolol in divided doses titrated to the standard weight-based target, the first-line systemic therapy for a periocular haemangioma, continued through proliferation. [4] [5] Baseline heart rate, blood pressure and feeding assessment precede initiation, and the contraindications of clinically significant bradycardia, heart block and reactive airway disease are excluded. [5] Counsel parents on the silent-hypoglycaemia risk with explicit sick-day rules: hold the dose and seek review if the infant is off feeds or unwell. [5]

Counselling. [4]

Explain that the lesion will continue to grow for some months and then involute over years, and that propranolol arrests proliferation to protect vision. [4] Describe the expected course and side effects in writing and arrange a clear safety-net and contact pathway. [5]

Follow-up. [5]

Ophthalmology review of refraction and the visual axis continues repeatedly through proliferation. [4] Monitor propranolol tolerability and wean rather than stop abruptly at the end of proliferation, and refer any residual skin change for later laser or surgical review. [5]

SAQ 2 — A forehead port-wine stain at the newborn check (20 marks, 30 minutes)

Stem. At the routine newborn examination, a term infant has a sharply demarcated, dark-red, non-blanching stain over the forehead and the upper eyelid. The infant is well. Describe your diagnosis, the syndrome you must exclude, the investigations and surveillance, and the counselling. [9]

Model answer

Diagnosis. [1]

A capillary malformation (port-wine stain) in the V1 (ophthalmic) dermatome, present at birth — to be distinguished from a salmon patch (naevus simplex), which blanches and fades, and from an early haemangioma, which will proliferate. [1]

Syndrome to exclude. [9]

Sturge–Weber syndrome: leptomeningeal angiomatosis on the same side as the V1 port-wine stain, with a risk of seizures, glaucoma, stroke-like episodes and developmental delay. The risk is concentrated when the stain involves the forehead or upper eyelid. [9]

Investigations and surveillance. [9]

Gadolinium-enhanced brain MRI is obtained in early infancy to look for leptomeningeal angiomatosis; a normal early scan does not eliminate later risk, so surveillance continues. [9] Ophthalmology review in the first weeks screens for glaucoma, which can declare in infancy. [9] Refer for pulsed-dye laser, ideally begun in infancy while the stain is lighter, and continue developmental and seizure surveillance through early childhood. [9]

Counselling. [9]

Explain that the stain is lifelong, that laser improves but does not erase it, and that the V1 distribution is why imaging and eye review are needed. [9] Discuss the risk of seizures and developmental issues honestly while offering reassurance that many children do well with surveillance and early treatment, and provide written information and a clear follow-up plan. [8]

Regional note. [9]

In ANZ this surveillance is coordinated through a tertiary paediatric service; in the UK through NHS-commissioned pathways; in North America per the AAP and ISSVA frameworks. [9]