With all congenital hemangiomas, patients will present with a solitary lesion at birth. Some case reports show a slight male predominance. Patients with all subtypes of congenital hemangiomas are typically asymptomatic. However, there have been reports of pain in half of patients with the NICH subtype.
All subtypes are thought to be due to underlying activating mutation in the GNAQ gene. There have been no associations as of yet with any other conditions.
D18.00 – Hemangioma unspecified site
32361000119104 – Congenital hemangioma
Differential Diagnosis & Pitfalls
- Infantile hemangioma – Typically not present at birth. Infantile hemangiomas demonstrate rapid growth after birth, whereas congenital hemangiomas do not. Infantile hemangioma will demonstrate GLUT-1 positivity on histopathology. Congenital hemangioma will be negative.
- Tufted angioma – Can present at birth or during infancy. It will present as a firm, violaceous plaque or papule with overlying hair.
- Kaposiform hemangioendothelioma – Present at birth or during childhood as a firm, subcutaneous mass resembling a raised ecchymosis. This is frequently associated with the Kasabach-Merritt phenomenon whereby patients will exhibit severe thrombocytopenia and coagulopathy.
- Vascular malformation (venous or arteriovenous) – These can be present at birth and will be soft and compressible. They additionally stain negative for Wilms tumor protein-1 (WT-1), whereas congenital hemangiomas will stain positive.
- Pyogenic granuloma – Congenital forms have been reported; this may be multifocal.