Question:

A two-month-old infant with the following findings is brought to your office. You note the following findings seen in the photograph. 

You appropriately diagnose the patient and caution about the potential for systemic findings. Which of the following is associated with the clinical scenario?

Answer choices:

A. Anomaly of the major cerebral arteries

B. Posterior fossa brain abnormalities

C. Hyperthyroidism

D. Hypothyroidism

E. Coronary artery aneurysm

F. Thrombocytosis

Rationale: Infantile hemangiomas are a very commonly observed finding seen in about 5% of children. The typical growth pattern is that of rapid growth in the first few months of life and slow involution over a period of years. They are seen more commonly in females and premature infants. Low birth weight is the most significant risk factor. Patients with multifocal infantile hemangiomas, previously known as diffuse neonatal hemangiomatosis, as seen in the photograph above, are at an increased risk of internal hemangiomas. In particular, it is recommended that if a patient has 5 or more infantile hemangiomas, an abdominal ultrasound should be performed to evaluate for liver involvement which is the most common extracutaneous site of involvement. Most patients with liver involvement are asymptomatic, however, patients can develop high-output cardiac failure, hypothyroidism, hepatic failure, and consumptive coagulopathy. The hepatic hemangiomas tend to behave more like a rapidly involuting congenital hemangioma (RICH) than an infantile hemangioma as they are fully formed at birth. Severe hypothyroidism can occur as a consequence of tumor-related overproduction of type III iodothyronine deiodinase. Patients may need aggressive thyroid replacement and systemic beta-blocker therapy.

Correct answer: D

As noted above, multifocal infantile hemangiomas can be associated with hepatic involvement which can lead to hypothyroidism due to overproduction of type III iodothyronine deiodinase.

Incorrect answers:

A. & B. These are findings seen in PHACES syndrome which is associated with segmental facial infantile hemangiomas. The acronym PHACES stands for Posterior fossa abnormalities, segmental facial infantile Hemangioma, Arterial anomalies, Cardiac anomalies, Eye anomalies, and Sternal abnormalities. This patient has multifocal infantile hemangiomatosis and no evidence of segmental hemangioma in the photograph.

C. Incorrect because hypothyroidism, not hyperthyroidism, can be seen with multifocal infantile hemangiomas.

E. High-output cardiac failure can be associated with multifocal infantile hemangiomas with systemic involvement; however, coronary artery aneurysm is a finding seen in Kawasaki disease which is not consistent with this vignette.

F. Incorrect as thrombocytopenia, not thrombocytosis, can be seen with multifocal infantile hemangiomas due to the consumptive coagulopathy.

Further reading: Chapter 118 Vascular Tumors