Dance Logan,  Patel Mittun

Final Pr. ID: Poster #: CR-012

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. Read More

Authors:  Dance Logan , Patel Mittun

Keywords:  choriocarcinoma, cutaneous metastases, infantile

Taori Abhijeet,  Shenouda Nazih

Final Pr. ID: Poster #: CR-009

Extramedullary hematopoiesis (EH) is defined as hematopoiesis occurring in organs outside of the bone marrow. It occurs in diverse conditions, including fetal development, normal immune responses, and pathological circumstances. These sites of extramedullary hematopoiesis may present as masses mimicking malignancy or produce symptoms due to pressure effects. In the setting of an existing malignancy they may appear as metastatic deposits signifying progression of disease. It is essential to confirm this due to its prognostic and treatment implications.
We report a 2-year-old little girl who presented initially with an acute history of ataxia, nystagmus, tremor, mydriasis and bruises on her left forehead. A solid left suprarenal mass was detected and a diagnosis of Stage 4 Neuroblastoma and Opsoclonus-Myoclonus syndrome was established. Subsequently she was on treatment which included chemotherapy, IVIG and stem cell transplant. On an MRI of the abdomen done a year later, a single lesion was detected in the right lobe of the liver. On subsequent short term follow up, innumerable scattered lesions were seen in the hepatic parenchyma and were thought to represent metastases. A liver biopsy showed that these hepatic lesions represented sites of extramedullary hematopoiesis.
Extramedullary hematopoiesis has been uncommonly seen in the cranium and sacrum in the setting of Neuroblastoma. We believe this is a unique presentation with extramedullary hematopoiesis presenting as solid liver masses masquerading as metastases in a known case of Neuroblastoma. Read More

Authors:  Taori Abhijeet , Shenouda Nazih

Keywords:  Neuroblastoma, Extramedullary Hematopoiesis, Metastases