Blueberry muffin syndrome

Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis.

The syndrome was originally described in congenital rubella cases in the United States in the 1960s . It is also seen in other congenital infections, malignancies (e.g. primary adrenal neuroblastoma) and hematological disorders.

Pathology

Etiology

congenital infections

• congenital cytomegalovirus (CMV)
• congenital rubella

hematological disease

• hemolytic disease of the newborn (ABO or Rh incompatibility)
• hereditary spherocytosis​

malignancy

• neuroblastoma
• acute myeloid leukemia (AML)

congenital vascular disease

• multiple hemangiomas of infancy
• multifocal lymphangioendotheliomatosis
• blue rubber bleb nevus syndrome
• multiple glomangiomas

others

• Langerhans cell histiocytosis (LCH)
• neonatal lupus erythematosus