P11 A Rare and Serious Cause of “Blueberry Muffin Syndrome”

Abstract

Abstract Urgent dermatology review was sought for a neonate born at term via emergency caesarean section for reduced movements. The pregnancy was complicated by gestational diabetes and infection with suspected coxsackie virus in the second trimester. There were 15 purple/blue nodules consistent with “blueberry muffin syndrome” and associated anaemia (118 g/L). Due to hypoxia, she was given antibiotics for suspected sepsis. TORCH screen was negative and USS abdomen and cranium were normal. A blood film showed B cell aplasia and LDH was raised (710 unit/L). CXR showed a mediastinal mass, left pleural effusion and left lung opacity. A skin biopsy was taken, chest drain placed and the baby transferred to Great Ormond Street. She was subsequently diagnosed with acute myeloid leukaemia following bone marrow and lumbar puncture. All three skin biopsies showed a malignant infiltrate with one displaying positivity for CD12 and CD33. CT and MRI scans have shown widespread nodules in the lungs, liver, kidneys, bones and intra-cranially. She is being treated with chemotherapy which has been complicated by a cardiac arrest and severe mucositis leading to colostomy. She is also NG fed and has sensorineural hearing loss. The nodules seen in “blueberry muffin syndrome” are most commonly extramedullary erythropoiesis but can also represent purpura or metastases. The causes are congenital infections, blood disorders or tumours. There is frequently associated anaemia (as in our case) and hepatosplenomegaly. This case demonstrates a rare and concerning cause of the syndrome and highlights the role dermatologists can play in diagnosis.