A 3-week-old female presents to the dermatology office for evaluation of a birthmark on the face and scalp.

Which of the following is the correct guidance that should be recommended to the patient? (hint: more than one may be correct)

A. Lesion will likely grow for the first year, propranolol may be helpful

B. MRI brain ASAP

C. Ophthalmologic exam

D. Serial clinical monitoring for the development of symptoms 

Rationale: 

 The photograph above shows a port wine stain within the V1 distribution which can be concerning for Sturge-Weber syndrome.  Sturge-Weber syndrome is characterized by facial capillary malformation (typically in a V1 distribution), ocular abnormalities, and brain abnormalities. 

Correct answers: C and D

Baseline ophthalmologic examination and ocular follow-up is important given the high risk of glaucoma particularly in infancy. Current guidelines suggest baseline neurological examination given the potential risk of seizures. However, imaging before 1 year of age is not routinely recommended unless the patient presents with any signs or symptoms of neurologic dysfunction. Pulse dye laser can be used to lighten the lesions particularly as they are in a cosmetically sensitive area; there is some evidence that early laser treatment may prevent the hypertrophy experienced later in life. 

Incorrect answers:

A. Infantile hemangiomas are expected to grow rapidly within the first few months and increase in size up to the first 12-15 months of life. Port wine stains are present at birth and generally do not enlarge or hypertrophy until adolescence. Propranolol is not effective for port wine stains. 

B. MRI at birth is not currently recommended unless patients have neurologic deficits or seizures. Experts recommend considering a baseline brain MRI at 1 year of age. 

Additional reading at Fitzpatrick's Dermatology Chapter 147: Vascular Malformations

1. Sabeti S, et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatr Neurol. 2021 Aug;121:59-66. doi: 10.1016/j.pediatrneurol.2021.04.013.