Diffuse hepatocutaneous hemangiomatosis: an unusual presentation

Area of Science:

• Vascular Malformations
• Pediatric Surgery
• Dermatology

Background:

• Infantile hemangiomas (IH) are common benign vascular tumors.
• Multi-organ involvement in IH is rare.
• Exceptional presentation of IH with life-threatening hemorrhage is seldom reported.

Observation:

• A 4-day-old neonate presented with multiple hepatocutaneous hemangiomas and a digital vascular lesion.
• The digital lesion ulcerated and caused uncontrollable bleeding by the third week of life.
• Histopathology confirmed GLUT-1 positive infantile hemangioma with deep arteriovenous malformation features.

Findings:

• The lesion was characterized as high-flow via imaging.
• Genetic testing for known IH-associated mutations (MAP2KI, RASA 1, EPHB4, GNAQ, GNA 11) was negative.
• The patient experienced a favorable outcome with resolution of hepatocutaneous lesions post-amputation.

Implications:

• This case highlights the diverse and unpredictable clinical behavior of infantile hemangiomas.
• The underlying mechanisms for differential lesion behavior and potential new mutations warrant further investigation.
• Understanding these variations is crucial for tailored therapeutic strategies in complex vascular anomalies.