Morbihan syndrome is a rare entity characterized by persistent erythema and solid edema of upper two-thirds of the face. Although its etiology is poorly understood, it is known to have a wide differential diagnosis and is frequently under-recognized.1–3 We report two such cases of Morbihan syndrome in patients that responded well to treatment with a combination of 2.5% hydrocortisone cream, brimonidine 0.33% topical gel, metronidazole gel and 100 mg doxycycline twice daily. This report emphasizes the necessity of biopsy for clinical correlation in cases of chronic facial edema. It also serves to highlight a potential association of Morbihan syndrome to diabetes mellitus through recently discovered pathophysiology of diabetes on the lymphatic system. It underscores the effectiveness of our therapeutic regimen in the context of other treatment regimen effectiveness. Finally, it highlights novel advances into the diagnosis and treatment of the disease.

Patient: Male, 33-year-old Final Diagnosis: CIC-DUX mutation sarcoma Symptoms: Mass in abdomen Medication:— Clinical Procedure: — Specialty: Oncology • Pathology Objective: Rare disease Background: Undifferentiated small blue round cell sarcomas with CIC-DUX4 translocation differ morphologically and in clinical outcomes from other types of sarcoma. Although classified by the World Health Organization as undifferentiated sarcomas, it is unclear whether these tumors are variants of Ewing’s sarcoma or a distinct entity. This report describes a round cell sarcoma with CIC-DUX4 translocation that presented clinically as a phlegmon. Case Report: A 31-year-old African American man presented with a mass in the right upper abdominal quadrant. Examination at a local hospital suggested an intra-abdominal abscess, and incision and drainage were performed. One week later, he returned with increased pain and bloody drainage from the incision site. Computed tomography showed a complex solid-cystic area measuring 7.8 cm suggesting a large phlegmon/abscess or neoplasm. Histologically, the sarcomatous malignancy was cellular, multinodular, and necrotic, with cells having round-ovoid to spindled nuclei and variable amounts of pale cytoplasm. Immunohistochemically, the mass was focally positive for CD99, but much less positive than an Ewing sarcoma. The mass also showed diffuse nuclear positivity for WT-1 and ETV4, but was negative for desmin. Fluorescence in-situ hybridization showed positivity for CIC-DUX4 gene fusion, resulting in a final diagnosis of round cell sarcoma with CIC-DUX4 translocation. The patient has completed 14 cycles of chemotherapy with no evidence of metastasis or local recurrence. Conclusions: A round cell sarcoma with CIC-DUX4 translocation can present clinically as a phlegmon with pleomorphic morphology. Early tumor identification by molecular analysis and early initiation of treatment can improve patient prognosis.

A 69-year-old man, previously treated with pyridostigmine for myasthenia gravis (manifesting as ptosis and diplopia) was evaluated for several concomitant bilateral anterior orbital masses. Imaging revealed 3 discrete, solid masses within and around the orbits. An incisional biopsy demonstrated atypical lymphocytes positive for CD20 and Cyclin-D1, consistent with mantle cell lymphoma. The patient received induction chemotherapy with a rituximab-based regimen. He experienced resolution of his diplopia and ptosis after one cycle of chemotherapy and achieved complete remission of the orbital masses and myasthenia symptoms after 6 cycles. Myasthenia gravis is most commonly associated with thymoma, but may also be observed with other malignancies. Recognition that orbital lymphoma may coexist with myasthenia gravis will help in expediting the diagnosis of future cases and in guiding treatment decisions.