Purpose or Case Report: An otherwise healthy 37 day old male presented to dermatology with a pedunculated, friable red glabellar mass. First noticed as a flat, bluish lesion at 10 days, its subsequent rapid growth led to an emergency department visit where dermatology diagnosed a hemangioma and initiated propranolol treatment. Despite this, the mass continued to grow rapidly, encroaching upon the patient’s right eye. The patient was admitted for further workup. Ultrasound findings were consistent with hemangioma while MRI findings were atypical, contributing to a decision to obtain percutaneous biopsy. Pathology was consistent with choriocarcinoma. PET/CT found FDG-avid glabellar, liver and lung lesions.

The infant's therapy and clinical course will be briefly described. Clinical photos, ultrasound, MR, and PET/CT before and after therapy will be included.

Discussion

The unusual predilection of infantile malignancies for cutaneous metastases allows their early discovery and creates vivid clinical stigmata not easily forgotten. While relatively common in infancy, such presentations are exceedingly rare in children and adults.

In a series of 208 infants with cutaneous metastases, numerous bluish skin nodules created the so-called “blueberry muffin” baby appearance in 82% of cases. The following diseases presented with cutaneous involvement (ordered most to least common): leukemia, Langerhans cell histiocytosis, neuroblastoma, rhabdoid tumor, rhabdomyosarcoma, primitive neuroectodermal tumor, choriocarcinoma, and adrenocortical carcinoma.

Etiology and epidemiology will be discussed.

Imaging findings and a companion case in which choriocarcinoma was also misdiagnosed initially as infantile hemangioma will be discussed.

Considered one of the fastest growing tumors, infantile choriocarcinoma classically presents with hepatomegaly, anemia, failure to thrive, and precocious puberty between 0 days and 5 months of life. Left untreated, the disease is usually fatal within 3 weeks of presentation. Chemotherapy and delayed surgical excision of metastases can be curative with long-term survival rates of around 80%.

Conclusion

A solitary cutaneous metastasis can be mistaken for infantile hemangioma both clinically and radiographically. Atypical MRI appearance is one important clue that can suggest an alternative diagnosis. Early diagnosis and treatment of infantile choriocarcinoma is critical for survival. PET/CT may be useful for staging and follow-up.
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